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Supplement to 23andMe Research Portal Beta – Call for Academic

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Supplement to 23andMe Research Portal Beta – Call for Academic Powered By Docstoc
					Supplement to 23andMe Research Portal Beta – Call for
              Academic Collaborators

What will be in the Research Portal Beta?
The Research Portal Beta Program will include access* to the following data:

1. Genome-wide association analysis summaries for each of a set of curated phenotypes** that
include:

   •   A description of how the phenotype is assessed
           o Question text, context on website
           o Coding of responses
   •   Details of data included in analysis
           o The model tested in the GWAS
           o Counts of cases and controls included in the analysis
           o Demographic table split by cases and controls
   •   Summaries of analysis results
           o Annotated Manhattan plot
           o Q-Q plot and GC inflation factor
           o A table of top index SNPs including platform information and association results
   •   A table of effect size, standard errors, and P-values for all SNPs tested
   •   See “23andMe Sample Analysis Summary: Any Asthma Diagnosis” for an example

2. To provide context for our data collection efforts, an overview of 23andMe phenotypes (see
“Overview of 23andMe Phenotype Data Collection” for a recent version)

   •   Summaries of all published surveys
   •   Contents of all 400+ “Research Snippets” (short, one-time questions)

3. To provide a sense of which phenotypes are already present in the database, an overview of
phenotypes and demographic characteristics that includes:

   •   Tables of counts by case/control status for each phenotype, bucketed by genetic
       ancestry, sex, and age

4. To provide context for our genetic data, a description of the genotyping platform that
includes:

   •   High level description of the 23andMe genotyping platform and imputation procedure
   •   SNP annotations

                                                1
           o   SNP identifiers
           o   Map positions
           o   Whether SNP is directly typed or imputed
           o   QC metrics
                      For typed SNPs: allele frequencies, genotype counts, call rate, Hardy-
                      Weinberg equilibrium
                      For imputed SNPs: average dosages, imputation r2

Future versions of the Research Portal may include**:

   •   Versioning of result sets
   •   More sophisticated queries: by region, by gene, etc.
   •   Additional annotation of analysis results
          o Link-out to dbSNP, genome browsers
          o Functional annotations of results (cSNP, eQTL, GWAS Catalog)
          o Replication results for SNPs reported in GWAS Catalog
   •   Features requiring dynamic access to individual-level data
          o Cross tabulation of multiple phenotypes
          o Additional kinds of association tests: conditional, stratified, interaction
          o API for integration of third party analytical tools
          o Region plots for individual associations

* Data descriptions and tables will be available for download.
** Approximately 50 curated phenotypes will be available at launch. Prioritization of additional
phenotypes to be curated (with the goal of reaching hundreds of phenotypes by launch end),
and features to be added to the Research Portal will be determined with input from Beta Launch
partners.




                                                2
23andMe Sample Analysis Summary: Any Asthma Diagnosis

Phenotype Description
The “any asthma” phenotype combines reports of asthma diagnoses from several sources:
•   Your Health Profile
•   Your Medical History
•   Asthma Symptoms survey
•   Allergies and Asthma survey
•   The Roots into the Future intake form
Each question has three choices (yes, no, not sure). We merge the yes/no responses from
these questions, with inconsistent responses scored as missing: cases have at least one positive
response and no negative responses, and controls have at least one negative response and no
positive responses. The following table shows demographics of all individuals for this
phenotype.
         Phenotype Group Total       M      F (0,30] (30,45] (45,60] (60,Inf]
         any_asthma case 13227 6554 6673 2822 4442 3195 2746
                    control 71876 40478 31398 13870 22471 17582 17886
The following table shows demographics of unrelated, European individuals included in the
GWAS.
         Phenotype Group Total       M      F (0,30] (30,45] (45,60] (60,Inf]
         any_asthma case     8643 4368 4275 1667 2876 2131 1969
                    control 44845 26425 18420 7542 13954 11308 12041


Genetic Association Tests
We performed logistic regression assuming an additive model for allelic effects, using the
model:
any_asthma ~ age + sex + pc1 + pc2 + pc3 + pc4 + pc5 + genotype
This genome-wide association analysis includes data from 8643 cases and 44845 controls of
European ancestry, filtered to remove close relatives. The results have been adjusted for a
genomic control inflation factor of 1.06.


Manhattan Plot
In the following plot, loci exceeding the genome-wide threshold of P < 5e-08 are indicated in
red.



                                               3
Index SNPs for Loci with P<1e-06
    assay.name     region           position   alleles   gt.rate   freq.b     hwe     pvalue       OR      95% CI              context
    rs7216389      17q12           35323475     C/T       1.000    0.506      0.46    2.6e-30   1.218   [1.178,1.259]    [GSDMB]
    rs1063355     6p21.32          32735692     G/T       1.000    0.412      0.40    3.5e-18   0.858   [0.830,0.888]    [HLA-DQB1]
    rs1837253      5q22.1         110429771     C/T       0.999    0.265      0.47    2.8e-15   0.855   [0.823,0.888]    SLC25A46---[]-TSLP
    rs1342326      9p24.1           6180076     A/C       1.000    0.166      0.17    3.5e-13   1.178   [1.129,1.229]    RANBP6---[]--IL33
    rs11674302     2q12.1         102253560     C/T       0.999    0.857      0.32    6.8e-12   1.190   [1.133,1.250]    IL1RL2--[]--IL1RL1
    rs1775551      10p14            9093049     A/C       0.715    0.184      0.088   3.9e-09   1.163   [1.108,1.220]    GATA3---[]
    rs17673553    16p13.13         11149407     A/G       1.000    0.267      0.024   3.1e-07   0.904   [0.871,0.939]    [CLEC16A]
    rs615213       Xq22.3         108493735     A/G       1.000    0.117      0.35    5.8e-07   1.111   [1.068,1.156]    IRS4---[]-GUCY2F
    rs744910      15q22.33         65233839     A/G       0.999    0.489      0.38    8.9e-07   1.088   [1.053,1.125]    [SMAD3]



Annotations from NHGRI GWAS Catalog
The following table shows, for each index SNP, all entries in the NHGRI GWAS Catalog that are
within 500kb and in at least moderate linkage disequilibrium (r2 > 0.5).
 region     position our.name our.pval        dist rsqr assay.name pvalue pubmed.id          trait                             genes
17q12      35323475 rs7216389  7.0e-30           - 0.733 rs907092  8.0e-06 19458352 Primary biliary              IKZF3
                                           147690                                   cirrhosis
17q12      35323475 rs7216389      7.0e-30 -93480 0.841 rs9303277 2.0e-09 20639880 Primary biliary               IKZF3,ZPBP2,GSDMB,ORMDL3
                                                                                    cirrhosis
17q12      35323475 rs7216389      7.0e-30 -29186 0.784 rs2872507 5.0e-09 18587394 Crohn’s disease               ORMDL3
17q12      35323475 rs7216389      7.0e-30 -29186 0.784 rs2872507 9.0e-07 20453842 Rheumatoid arthritis          IKZF3
17q12      35323475 rs7216389      7.0e-30 -29186 0.784 rs2872507 5.0e-11 21297633 Ulcerative colitis            IKZF3, ORMDL3, IKZF3, PNMT,
                                                                                                                 ZPBP2, GSDML
17q12      35323475 rs7216389      7.0e-30 -29186 0.784 rs2872507        2.0e-06   21829393 Type 1 diabetes      ORMDL3
                                                                                            autoantibodies
17q12      35323475   rs7216389    7.0e-30 -7753    0.792   rs2305480    3.0e-08   20228799 Ulcerative colitis   ORMDL3,ZPBP2M,GSDML
17q12      35323475   rs7216389    7.0e-30 -7753    0.792   rs2305480    1.0e-07   20860503 Asthma               GSDMB
17q12      35323475   rs7216389    7.0e-30 -5544    0.801   rs11078927   2.0e-16   21804549 Asthma               GSDMB
17q12      35323475   rs7216389    7.0e-30 -3709    0.916   rs2290400    6.0e-13   19430480 Type 1 diabetes      ORMDL3
17q12      35323475   rs7216389    7.0e-30      0   1.000   rs7216389    9.0e-11   17611496 Asthma               ORMDL3
17q12      35323475   rs7216389    7.0e-30 25225    0.519   rs6503525    5.0e-07   21150878 Asthma               ORMDL3
6p21.32    32735692   rs1063355    2.7e-18 -23342   0.596   rs9272346     5.0e-    17554300 Type 1 diabetes      MHC
                                                                           134
6p21.32    32735692 rs1063355      2.7e-18 -23342 0.596 rs9272346         6.0e-    18978792 Type 1 diabetes      HLA
                                                                           129
5q22.1    110429771 rs1837253      1.8e-15      0 1.000 rs1837253        1.0e-16   21804548 Asthma               TSLP


                                                                          4
5q22.1  110429771 rs1837253     1.8e-15       0    1.000   rs1837253   1.0e-14   21804549   Asthma                TSLP
9p24.1    6180076 rs1342326     2.2e-13       0    1.000   rs1342326   9.0e-10   20860503   Asthma                IL33
9p24.1    6180076 rs1342326     2.2e-13    3379    0.573   rs2381416   2.0e-12   21804549   Asthma                IL33
2q12.1  102253560 rs11674302    6.8e-12   66489    0.813   rs3771180   2.0e-15   21804549   Asthma                IL1RL1
16p13.13 11149407 rs17673553    2.8e-07   -3123    0.614   rs2903692   7.0e-11   17632545   Type 1 diabetes       KIAA0350
15q22.33 65233839 rs744910      9.3e-07       0    1.000   rs744910    4.0e-09   20860503   Asthma                SMAD3




Replication of GWAS Catalog Results
The following table shows, for each GWAS Catalog result for asthma, our association test result
for our best available proxy (distance < 100kb, r2 > 0.8).
              region      position    our.name    our.pval   dist rsqr assay.name     pvalue    pubmed.id      trait        genes
             1q21.3     150759778    rs499697     0.71      -595 1.000 rs4845783      6.0e-06    21804549     Asthma   CRCT1
             1q21.3     152692888    rs4129267    0.033         0 1.000 rs4129267     2.0e-08    21907864     Asthma   IL6R
             1q31.3     195592531    rs2786098    0.86          0 1.000 rs2786098     2.0e-13    20032318     Asthma   DENND1B, CRB1
             2q12.1     102321085    rs13431828   1.9e-11  -1036 0.985 rs3771180      2.0e-15    21804549     Asthma   IL1RL1
             2q12.1     102352654    rs3771166    5.6e-11       0 1.000 rs3771166     3.0e-09    20860503     Asthma   IL18R1
             4q31.21    144222609    rs7686660    0.90          0 1.000 rs7686660     2.0e-12    21804548     Asthma   LOC729675
             4q31.21    144577187    rs3805236    0.57          0 1.000 rs3805236     7.0e-08    21804548     Asthma   GAB1
             5q12.1      59405551    rs1588265    0.88          0 1.000 rs1588265     3.0e-08    19426955     Asthma   PDE4D
             5q22.1     110429771    rs1837253    1.8e-15       0 1.000 rs1837253     1.0e-16    21804548     Asthma   TSLP
             5q22.1     110429771    rs1837253    1.8e-15       0 1.000 rs1837253     1.0e-14    21804549     Asthma   TSLP
             5q31.1     131751187    rs2073643    0.048         0 1.000 rs2073643     2.0e-07    20860503     Asthma   SLC22A5
             5q31.1     131929124    rs2244012    1.2e-05       0 1.000 rs2244012     3.0e-07    20159242     Asthma   RAD50
             5q31.1     132023742    rs1295686    0.00013       0 1.000 rs1295686     1.0e-07    20860503     Asthma   IL13
             6p21.32     32263559    rs204993     1.8e-05       0 1.000 rs204993      2.0e-15    21804548     Asthma   PBX2
             6p21.32     32292323    rs404860     0.35          0 1.000 rs404860      4.0e-23    21804548     Asthma   NOTCH4
             6p21.32     32446673    rs3129943    0.50          0 1.000 rs3129943     3.0e-15    21804548     Asthma   C6orf10
             6p21.32     32466491    rs3117098    3.9e-05       0 1.000 rs3117098     5.0e-12    21804548     Asthma   BTNL2
             6p21.32     32522251    rs3129890    0.75          0 1.000 rs3129890     5.0e-13    21804548     Asthma   HLA-DRA
             6p21.32     32766057    rs7775228    0.00086       0 1.000 rs7775228     5.0e-15    21804548     Asthma   HLA-DQB1
             6p21.32     32795951    rs9275698    0.46          0 1.000 rs9275698     5.0e-12    21804548     Asthma   HLA-DQA2
             6p21.32     33069339    rs9500927    0.052         0 1.000 rs9500927     4.0e-09    21804548     Asthma   HLA-DOA
             6p21.32     33150858    rs987870     0.045         0 1.000 rs987870      2.0e-10    21814517     Asthma   HLA, DPB1
             8q24.11    118094826    rs3019885                  0 1.000 rs3019885     5.0e-13    21814517     Asthma   SLC30A8
             9p24.1       6180076    rs1342326    2.2e-13       0 1.000 rs1342326     9.0e-10    20860503     Asthma   IL33
             9p24.1       6203387    rs928413     9.9e-09 -19932 0.963 rs2381416      2.0e-12    21804549     Asthma   IL33
             10p14        9012024    rs10508372   0.0014        0 1.000 rs10508372    2.0e-15    21804548     Asthma   LOC338591
             10q11.23    53163479    rs7922491    0.76          0 1.000 rs7922491     5.0e-07    21907864     Asthma   PRKG1
             11q13.5     75948331    rs7130588    0.00014       0 1.000 rs7130588     2.0e-08    21907864     Asthma   LRRC32
             11q23.2    113740900    rs12223585   0.90     -4435 1.000 rs11214966     6.0e-07    21804549     Asthma   C11orf71
             12q13.2     54650588    rs2069408    0.12          0 1.000 rs2069408     1.0e-10    21804548     Asthma   CDK2
             12q13.2     54698754    rs1701704    0.034         0 1.000 rs1701704     2.0e-13    21804548     Asthma   IKZF4
             15q21.2     49756960    rs17525472   0.69          0 1.000 rs17525472    2.0e-06    20159242     Asthma   SCG3
             15q22.2     58857280    rs11071559   2.3e-05       0 1.000 rs11071559    1.0e-07    20860503     Asthma   RORA
             15q22.33    65233839    rs744910     9.3e-07       0 1.000 rs744910      4.0e-09    20860503     Asthma   SMAD3
             17q12       35315722    rs2305480    7.0e-28       0 1.000 rs2305480     1.0e-07    20860503     Asthma   GSDMB
             17q12       35310723    rs8069176    6.7e-23   7208 0.986 rs11078927     2.0e-16    21804549     Asthma   GSDMB
             17q12       35323475    rs7216389    7.0e-30       0 1.000 rs7216389     9.0e-11    17611496     Asthma   ORMDL3
             17q12       35346239    rs8079416    6.8e-18   2461 0.957 rs6503525      5.0e-07    21150878     Asthma   ORMDL3
             17q12       35375519    rs3894194    5.3e-16       0 1.000 rs3894194     5.0e-09    20860503     Asthma   GSDMA
             20p13        3775309    rs4815617    0.14          0 1.000 rs4815617     8.0e-06    20159242     Asthma   KIAA1271
             22q12.3     35863980    rs2284033    2.1e-06       0 1.000 rs2284033     1.0e-08    20860503     Asthma   IL2RB




                                                                        5
Regional Association Plots




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Overview of 23andMe Phenotype Data Collection

The majority of 23andMe’s phenotypic data is collected through online questionnaires and
“Research Snippets” (single, unrelated questions). There are now over 55 questionnaires and
over 400 Research Snippets available on the 23andMe website. As new phenotypic data
collection tools are developed and deployed, this list will grow. The questionnaires are
described and the Research Snippets are enumerated below.


Medical
General medical
  • Your Medical History
     o 384 questions
     o A comprehensive medical history.
     o Asks if you have had 191 different diseases, conditions, and surgeries, and if so, at
        what age were you diagnosed.
     o Full list of conditions covered can be found at the end of the Questionnaires section.

  • Cancer Personal and Family History
     o 120 questions
     o Assesses personal history of cancer and family history of cancer in 1st degree relatives
        and grandparents

Parkinson’s Disease
  • Parkinson's Disease: Background
     o 104 questions
     o created in collaboration with the Parkinson’s Institute and other PD experts
     o Comprehensive survey about Parkinson’s disease (PD)
     o Covers
            Diagnosis
              • When and by what type of doctor?
              • Diagnosis of other comorbid conditions that may be confused with PD (PSP,
                 MSA, MS, essential tremor, etc.)
              • Initial onset of PD (initial symptoms, sudden/gradual onset,
                 unilateral/bilateral, progression of symptoms, improvement with
                 medication)
            For people without a diagnosis of PD:
              • Assessment of movement characteristics (tremor, handwriting, balance,
                 etc.) that are associated with PD
            Medications


                                             11
              • medications that may cause PD like symptoms (e.g., certain psychiatric
                 medications)
              • medications currently and previously taking for PD (Sinemet, Stalevo, and 8
                 others)
              • Efficacy of medications on a typical day
             For people with a diagnosis of PD
              • Age at which specific symptoms began to show up
              • Universal Parkinson’s Disease Rating Scale (UPDRS), rating how severe
                 symptoms have been over the past week
              • Whether they had a caregiver fill out the survey.
             Environmental risk factors
              • family history of PD
              • smoking
              • pesticide use on the job
              • pesticide use at home
              • head injuries
              • NSAID use

  • Parkinson's Disease: Tracking
     o 38 questions
     o Longitudinal collection of
            symptoms
              • UPDRS
            medications
              • which drugs
              • efficacy
              • supplements
            surgeries/treatments
              • deep brain stimulation
              • other surgeries
            therapies
              • occupational / counseling / speech / etc.
            exercise
              • amount of vigorous / moderate activity in the last week
     o Meant to be taken every few months
Myeloproliferative Neoplasms
  • Background Survey
     o 41 questions
     o diagnosis
     o age diagnosed
     o diagnosing physician
     o confirmation by bone marrow biopsy

                                            12
     o presence of germline mutations
     o risk factors
            family history of MPNs
            exposure to petroleum chemicals
  • MPN Symptoms
     o 62 questions
     o includes the Myelofibrosis Symptom Assessment Form, developed by Ruben A. Mesa
     o assesses symptoms in the last week
            pain
            early satiety
            fevers
            fatigue
            night sweats
            itching
     o blood counts
            hemoglobin
            white blood cells
            peripheral blasts
     o weight change
     o stroke or blood clots
     o treatment for clots
     o bleeding
     o diagnosis and treatment of gout

Sarcoma
  • Sarcoma Background Survey
     o 287 questions covering
     o diagnosis and subtype
     o diagnosing and treating physician types
     o symptoms
     o disease course and treatment
     o treatment efficacy
     o side effects from treatments
     o risk factors for sarcoma
            military service
            prior cancer, metastasis
            radiation therapy
            exposure to Agent Orange
            family history of cancer, sarcoma

  Urinary Incontinence
  • Urinary Incontinence Questionnaire
      o 27 questions
      o stress and urge urinary incontinence
                                           13
      o   medications for incontinence
      o   surgery for incontinence
      o   effectiveness of treatment
      o   pelvic organ prolapse
      o   risk factors
               vaginal deliveries
               chemotherapy

  Infertility
  • Male Infertility
      o 53 questions
      o number of offspring, impregnation
      o time to conception
      o infertility treatment
      o semen analyses
      o infertility diagnosis
      o risk factors
              wet heat exposure
              cycling
              diseases affecting fertility
              fertility-related surgeries

  • Female Infertility
     o 45 questions
     o number of pregnancies
     o time to first conception
     o age at first pregnancy or trying to conceive
     o infertility treatment
     o infertility diagnosis
     o miscarriages
     o risk factors
            diseases affecting fertility
            fertility-related surgeries

Pregnancy
  • Weekly Pregnancy Survey
     o 40 week longitudinal survey, to be taken each week while pregnant

  • Past Pregnancy and Birth Survey
     o 266 questions
     o gathers a detailed retrospective history for all pregnancies




                                             14
      o covers conception, prenatal care, multiple births, miscarriages, weight gain,
        symptoms, diseases during pregnancy, changes in chronic conditions, early delivery,
        delivery method, complications, birthweight, postnatal complications


Baldness
  • Hair Loss in Men and Women
     o 20 questions
     o Hair loss as compared to a set of pictures, age at beginning of hair loss
     o conditions possibly causing hair loss (giving birth, medications, anemia, PCOS, etc.)
     o medications used for hair loss (minoxidil, finasteride, etc.)
     o efficacy of these medications
Post-operative nausea and vomiting (PONV)
  • After-Effects of Surgery
     o 38 questions
     o covers surgeries under general anesthesia and the extent of nausea or vomiting
        afterwards, as well as any family history of PONV

Migraines
  • Migraines
     o 63 questions
     o detailed survey about causes and symptoms of migraines
            frequency and duration of headaches
            symptoms during a migraine
            preceding warning signs
            visual changes
            family history
            medications used (NSAIDS, dihydroergotamine, ergotamine, metoclopromide,
            butalbital combinations, opiates, triptans)
            efficacy of these medications
            prophylactic medications (beta blockers, calcium channel blockers,
            antihypertensives, tricyclic antidepressants, SSRIs, anti-seizure drugs,
            cyproheptadine)
            possible triggers

Healthy Aging
  • Longevity
     o 26 questions
     o age at death (or current age) for yourself, parents, and grandparents
     o cause of death (accidental versus non) for parents and grandparents

  • Sports Injuries

                                             15
      o 138 questions
      o Activities engaged in on a regular basis (from aerobics to martial arts to yoga)
             age ranges when you participated in these activities
             time on a job involving manual labor
             time using a computer daily
             ACL tears (when, from which activity)
             meniscus tears
             tendinitis (achilles, elbow, patellar, other; from what activity)
             rotator cuff tears
             frequent or chronic knee or shoulder pain

Allergies and asthma
  • Allergies and Asthma
     o 250 questions
     o Allergies from
              food
              plants
              animals
              dust mites
              mold
              latex medications
              vaccines
              other
     o In each category, followup questions about
              what food/plant/etc. causes the allergy
              whether it was diagnosed by a doctor
              age of allergic reaction
              type of reaction
     o   severe allergy attacks
     o asthma attacks
     o triggers for asthma
     o number of older/younger siblings
     o pets as a child
     o maternal allergies while pregnant
     o family history
  • Asthma
     o 20 questions
     o Age of diagnosis, current status
     o Allergy symptoms
     o Frequency of shortness of breath
     o Frequency of waking due to asthma symptoms
     o Frequency of use of rescue inhaler
     o Triggers (animals, smoke, dust, pollen, food, etc.)
     o FEV1 result from spirometry
                                              16
       o Past, current usage and efficacy of Singulair
       o Other medication usage

H1N1
  • H1N1 Flu (Swine Flu)
     o 29 questions
     o covers symptoms, severity, and response to antivirals for people who had H1N1 flu


Medication response and side effects
  • Commonly Used Medications
     o 41 questions
     o efficacy of OTC medications
            second-generation antihistamines
            acetaminophen
            NSAIDS (aspirin, ibuprofen, aleve)
            codeine
            PPIs (omeprazole, etc.)
     o side effects of OTC and common prescription medications
            second-generation antihistamines and dry mouth, fast heartbeat
            first-generation antihistamines and dizziness / drowsiness
            pseudoephedrine and jitter
            NSAIDS and stomach problems
            codeine and euphoria, constipation, vomiting, itching
            niacin (with or without a statin) and flushing

  • Finasteride
      o 95 questions
      o use of medications for hair loss: duration and amount
      o degree of hair loss before and after treatment
      o self-rated efficacy

  • NSAIDs
     o 548 questions
     o use of nsaids: duration and amount
     o experience of side effects
     o efficacy

  • Warfarin
     o 224 questions
     o use of warfarin: dosage and duration
     o dosage changes
     o reason prescribed

                                              17
         o side effects

  • Antidepressants
     o 259 questions
     o history of antidepressant use
     o duration and amount
     o indication
     o side effects
     o effectiveness for depression

  • Proton Pump Inhibitors
     o 136 questions
     o history of proton pump inhibitor use
     o duration of use
     o indication
     o side effects
     o efficacy

  • Serious Side Effects
     o 8 questions
     o Collects information about severe drug side effects

  • Parkinson’s disease, migraines, sarcoma, MPN background, and baldness surveys also
    include questions about drug response



Traits
Personality
  • Optimism
     o 10 questions
     o measures optimism on a 25 point scale
     o From Scheier et al. (1994) . “Distinguishing optimism from neuroticism (and trait
        anxiety, self-mastery, and self-esteem): a reevaluation of the Life Orientation Test.” J
        Pers Soc Psychol 67(6):1063-78.

  • Five Dimensions of Personality
      o 44 questions
      o measures personality on five factors: neuroticism, extraversion, openness,
         agreeableness, and conscientiousness
      o From John, O. P. and Srivastava, S. (1999) . “The big-five trait taxonomy: History,
         measurement, and theoretical perspectives.” New York: Guilford.


                                              18
   • Reading the Mind in the Eyes-Revised Version
      o 38 questions
      o Assesses the ability to read others’ emotional states component of empathy
      o Developed by Simon Baron-Cohen at the Autism Research Centre

Laterality
   • Ocular Dominance
          o 1 question
          o a simple test to measure which eye is dominant

   • Handedness
      o 12 questions
      o Asks about which hand is dominant in a variety of motions (writing, throwing,
        shoveling, etc.) in order to score handedness on an 8 point scale.
      o Survey from Annett M (1970) . “A classification of hand preference by association
        analysis.” Br J Psychol 61(3):303-21.

   • Footedness
      o 12 questions
      o Which foot is dominant for a variety of motions.
      o Elias et al. (1998) . “Footedness is a better predictor than is handedness of emotional
         lateralization.” Neuropsychologia 36(1):37-43.

Pigmentation
   • Pigmentation
      o 11 questions
      o Eye color, hair color, and freckling at age five and at adulthood.
      o Pictures and text descriptions used to classify hair color into 9 categories, eye color
         into 7 categories, and freckling on a 16 point scale.

   • Skin Color
      o 11 questions
      o Skin color and tanning response using pictures and descriptions.
Morphology
   • Physical Features
      o 37 questions about:
      o Upper, lower back hair
      o Cheek, chin dimples
      o Tongue flip, eyebrow lifting
      o Toe, finger lengths
      o Shoe size(s), arch height
      o Bra band and cup size

                                               19
    o 11 questions from the Beighton hypermobility scale
    o Face shape, nose profile, brow line

• Skin aging
   o 60 questions, limited to women with age > 30 and no cosmetic surgery
   o forehead, under-eye, next-to-eye, brow wrinkles
   o facial sagging
   o lip height
   o age spots
   o sun burns, tanning ability
   o smoking history
   o hormone exposure
           use of birth control pills
           pregnancy status
           menopausal status
           hormone replacement therapy
   o sun exposure
           country, state of residence in childhood, adulthood
           outdoor employment
           tanning bed use
           sunbathing frequency
           sunscreen use, rating
   o use of medications affecting sun sensitivity:
           Accutane, retinoic acid
           Celebrex, Vioxx
           statins
   o use of facial skin care products with:
           alpha-hydroxy acids
           moisturizer, with or without sunscreen
           retinol, retinoids
           salicylic acid
   o skin cancer
   o diagnoses of diabetes, hyperglycemia

• Rosacea
   o 13 questions, limited to men and women 30 and older
   o symptoms of rosacea affecting the face:
          persistent redness
          broken blood vessels
          persistent papules (small red bumps)
          cobbled appearance of nose
          prolonged flushing
          burning or stinging
          swelling
                                         20
             gritty feeling / dry eyes
       o diagnosis
       o diagnosis of other autoimmune conditions
       o treatment for rosacea

Miscellaneous Traits
  • Ten Things About You
     o 10 quick questions about:
     o photic sneeze reflex
     o night/morning person
     o hand clasp
     o wear glasses
     o cavities
     o handedness
     o freckles
     o preference for sweet food
     o asparagus anosmia
     o hair curl

  • Ten More Things About You
     o 10 more quick questions about:
     o attached earlobes
     o braces
     o wisdom teeth
     o motion sickness (in cars, planes, boats)
     o leg jiggle
     o hair whorl
     o astigmatism
     o eyelid crease



Covariates
  • Where Are You From?
     o 22 questions
     o Where you, your parents, and your grandparents were born.
     o What other ethnic identities did they have (e.g., Ashkenazi, Basque, Cherokee).

  • Health Habits
     o 45 questions
     o Covers basic common covariates
     o height
     o weight
     o birthweight
                                            21
    o   number of children
    o   number of young children
    o   amount and type of exercise
    o   caffeine, tobacco, and alcohol use past and present
    o   other recreational drug use

• What Do You Do?
   o 9 questions
   o basic socio-economic covariates
         occupation
         employment status
         marital status
         earnings
         amount of time spent working
         education

• Ten Things About Your Environment
   o 22 questions
   o Covers common environmental risk factors for several diseases
          use of herbicide
          use of pesticide
          amount of fish eaten
          source of tap water and type of filter used
          mold in house
          smoking
          exposure to secondhand smoke
          residence near farms
          residence near factories
          zip code (urban/rural/suburban)

• Your Physical Activity
   o 41 questions
   o Adapted from the International Physical Activity Questionnaire (IPAQ), Craig et al.
      2003. “International physical activity questionnaire: 12-country reliability and
      validity.” Med Sci Sports Exerc 35(8):1381-95.
   o Measures amount of vigorous, moderate, and other activity over the past week.

• Under Pressure
   o 10 questions
   o Perceived stress scale from Cohen et al. (1983) . “A global measure of perceived
     stress.” J Health Soc Behav 24(4):385-96.

• Caffeine Usage
   o 57 questions
                                            22
       o Covers duration and frequency of use of coffee, black tea, green tea, and caffeinated
         sodas

  • Pesticides at Work
     o 182 questions
     o Covers occupational exposure to pesticides
             type of pesticide
             name of pesticide
             age at exposure
             duration of exposure
             type of exposure
             use of protective equipment
             adverse reactions to pesticide exposure

  • Smoking
     o 24 questions
     o use of tobacco products
            duration and amount

  • Head Injury
     o 52 questions
     o incidence of head injury or concussion
     o number of injuries
     o severity
            hospitalization
            loss of consciousness
            amnesia, trouble thinking
            seizures
            skull fracture

Conditions covered in the general health survey
  •   Nearsightedness (near objects are clear, far objects are blurry)
  •   Farsightedness (far objects are clear, near objects are blurry)
  •   Astigmatism
  •   Retinal detachment/retinal tears
  •   Macular degeneration
  •   Blindness
  •   Cataract
  •   Glaucoma
  •   Hearing loss
  •   Ringing in the ears (tinnitus)
  •   Seizure disorder (epilepsy)
  •   Sleep disturbance

                                               23
•   Sleep apnea
•   Migraine headaches with aura
•   Migraine headaches without aura
•   Loss of sensation
•   Paralysis
•   Parkinson's disease
•   Alzheimer's disease
•   Memory loss
•   Chronic fatigue syndrome
•   Fibromyalgia
•   Dyslexia
•   Recurrent vertigo (dizziness)
•   Schizophrenia
•   Depression
•   Bipolar disorder (manic depression)
•   Dissociative identity disorder (multiple personality disorder)
•   Anxiety disorder
•   Obsessive-compulsive disorder
•   Attention deficit disorder (ADD) or Attention deficit hyperactivity disorder (ADHD)
•   Autism-spectrum disorder (for example, Asperger syndrome, pervasive developmental
    disorder, or autism)
•   Mental retardation or other learning difficulties
•   Hyperthyroidism
•   Hypothyroidism
•   Thyroid nodules
•   Angina (chest pain treated with nitroglycerin)
•   Coronary artery disease/heart disease
•   Heart attack
•   Congenital heart defect
•   Heart failure
•   Myocarditis (inflammation of the muscular part of the heart)
•   High blood pressure
•   Orthostatic hypotension
•   Aortic stenosis
•   Aortic aneurysm
•   Stroke
•   High cholesterol (over 200mg/dl) or Hypercholesterolemia
•   Bleeding tendency
•   Blood clots
•   Blood disorder
•   Anemia
•   Elevated result on liver function test

                                           24
•   Liver cysts
•   Cirrhosis
•   Hepatitis
•   Hemochromatosis
•   Heartburn
•   Acid reflux
•   Gastroesophageal reflux disease (acid reflux disease)
•   Ulcer
•   Hiatal hernia (when your stomach pushes into your esophagus)
•   Intestinal polyps
•   Colon polyps
•   Hemorrhoids
•   Hernia
•   Crohn's disease
•   Ulcerative colitis
•   Chronic constipation/Hirschprung's disease
•   Blood in your stool
•   Bladder infection
•   Kidney cysts
•   Kidney stones
•   Reduced kidney function (requiring dialysis)
•   Infertility
•   Ovarian cyst
•   Endometriosis
•   Infertility
•   Prostate enlargement
•   Degenerative joint disease
•   Osteoarthritis
•   Osteoporosis
•   Scoliosis
•   Joint hyperextensibility (double-jointedness)
•   Chronic back pain
•   Fracture
•   Skin tags
•   Three or more severe sunburns that produced blisters
•   Several large moles (1/4 inch, flat or raised) or abnormal biopsy of mole
•   Type 1 diabetes
•   Type 2 diabetes
•   Gestational diabetes
•   High blood sugar (hyperglycemia)
•   Eczema
•   Psoriasis

                                             25
•   Lupus
•   Urticaria (chronic hives)
•   Rheumatoid arthritis
•   Multiple sclerosis
•   Celiac disease
•   Scleroderma
•   Seasonal allergies
•   Asthma
•   Environmental (but not seasonal) allergy
•   Food allergy
•   Drug allergy
•   Alcoholism
•   Nicotine abuse
•   Drug abuse
•   Positive response (red bump) to tuberculosis (TB) skin test, patch test, PPD
•   Tuberculosis
•   Pneumonia
•   Chronic bronchitis
•   Polio
•   Scarlet fever
•   Rheumatic fever
•   Cold sores
•   Chicken pox
•   Shingles
•   Measles
•   Mumps
•   Rubella
•   AIDS or HIV+
•   Obesity
•   Emphysema
•   Basal cell carcinoma
•   Squamous cell carcinoma
•   Melanoma
•   Lung cancer
•   Breast cancer
•   Non-cancerous breast mass
•   Colorectal cancer
•   Bladder cancer
•   Non-Hodgkin's lymphoma
•   Kidney cancer
•   Leukemia
•   Pancreatic cancer

                                             26
•   Thyroid cancer
•   Esophageal cancer
•   Brain cancer
•   Stomach cancer
•   Liver cancer
•   Throat cancer
•   Mouth cancer
•   Gall bladder cancer
•   Anal cancer
•   Bone cancer
•   Salivary gland cancer
•   Uterine cancer
•   Endometrial cancer
•   Ovarian cancer
•   Cervical cancer
•   Vulval cancer
•   Vaginal cancer
•   Prostate cancer
•   Testicular cancer
•   Brain surgery
•   Cataract removal
•   Corrective eye surgery (not LASIK)
•   LASIK
•   Ear tube insertion/myringotomy
•   Tonsillectomy (surgery to remove the tonsils)
•   Angioplasty
•   Coronary bypass surgery
•   Open heart surgery
•   Heart valve surgery
•   Cardiac ablation (to treat arrhythmia)
•   Breast augmentation
•   Breast reduction
•   Breast biopsy
•   Mastectomy
•   Lumpectomy
•   Gastric bypass surgery (stomach stapling)
•   Gastrectomy (partial or full removal of the stomach)
•   Gall bladder removal
•   Hernia repair
•   Hemorrhoid surgery
•   Cesarean section (C-section)
•   Hysterectomy (removal of the uterus)

                                            27
•   Arthroscopic surgery
•   Joint surgery
•   Joint replacement
•   Cervical spine surgery
•   Lumbar spine surgery
•   Bone fracture repair
•   Bunionectomy
•   Biopsy (not breast)
•   Mohs surgery (for basal cell carcinoma)
•   Laparoscopy
•   Transplant surgery
•   Appendectomy
•   Cosmetic/plastic surgery
•   Liposuction




                                              28
Research Snippets
"What is your weight?"

"Have you ever taken warfarin (Coumadin, Jantoven, Marevan, Lawarin, or Waran)?"

"Have you ever had any biological children?"

"Have you ever been diagnosed with manic depression (sometimes also called bipolar
disorder)?"

"Do you currently suffer from chronic constipation (fewer than 3 bowel movements per
week)?"

"In a typical week, how often do you exercise?"

"In a typical week, how often do you engage in 30 minutes or more of walking or light exercise,
such as golf or light yoga?"

"In a typical week, how often do you engage in 15 minutes or more of moderate physical
activity (activity that causes your heart to beat more rapidly but is not exhausting, such as
dancing, easy swimming, easy bicycling, or fast walking)?"

"Has a doctor ever diagnosed you with mono (mononucleosis)?"

"In a typical week, how often do you engage in 15 minutes or more of vigorous physical activity
(activity that causes you to work up a sweat and your heart to beat rapidly, such as running,
jogging, vigorous swimming, cycling, or racket sports)?"

"How would you rate your current ability to smell?"

"Are you of Hispanic, Latino, or Spanish origin?"

"How would you rate your current ability to smell compared to at age 20?"

"Have you ever undergone a procedure to treat dry eyes?"

"On average, how often do you use some form of treatment for dry eyes, including over-the-
counter remedies?"

"When you get bitten by a mosquito, how big do the bites usually get?"

"Are you currently taking any other medications? If so, please list your current medications,
separating multiple medications with commas."

"Have you ever been diagnosed with an autoimmune disease (a disease in which your immune
system attacks part of your body)? Some common autoimmune diseases are listed on your
right."


                                                29
"Have you ever been pregnant?"

"Have you ever undergone any surgeries (excluding dental surgeries)?"

"Are there any other conditions that you have ever been diagnosed with or that you have a
strong family history of?"

"In what year were you born?"

"Do you currently smoke cigarettes on a regular basis?"

"Have you ever smoked cigarettes on a regular basis?"

"What is your sex?"

"What is your height?"

"Have any of your first or second degree biological relatives been diagnosed with Parkinson's
disease?"

"Have you ever had a skin rash because of poison oak, poison ivy, or poison sumac?"

"Have you ever been told by a doctor that you have astigmatism?"

"How much do you agree with the statement, “I take a positive attitude toward myself.”?"

"Were you born with any teeth already grown in?"

"Have you been diagnosed with dyslexia?"

"Do you frequently or compulsively pull out your own hair?"

"Did you learn a second language before the age of 12?"

"Have you ever undergone LASIK eye surgery?"

"Have you ever been exposed to poison oak, poison ivy, or poison sumac?"

"Have you ever been diagnosed with ankylosing spondylitis?"

"Have you ever been diagnosed with achilles tendinitis?"

"Do you take medication to treat or prevent acid reflux/heartburn? "

"Have you ever been diagnosed with an ACL (anterior cruciate ligament) tear?"

"When you were a teenager, how would you describe the amount of acne you had? "

"Have you ever been diagnosed with Addison's disease?"



                                              30
"Has a doctor ever identified adenomatous polyps (benign clumps of cells) in your colon (large
intestine)?"

"Were you adopted?"

"If forced to choose, would you consider yourself to be more cautious or more adventurous?"

"How old were you when the hair on your head start to go gray?"

"At what age did you start to read?"

"How high is your alcohol tolerance (amount you can drink before being drunk)? "

"Does your skin react to non-hypoallergenic metal, such as rings, earrings or other kinds of
jewelry?"

"When you have been at high altitudes, have you experienced altitude sickness?"

"Have you ever noticed a peculiar odor when you pee after eating asparagus?"

"Have you ever sprained your ankle?"

"Do you take any anti-inflammatory medications on a regular basis?"

"Do you have anosmia (no sense of smell)?"

"Has a doctor ever diagnosed you with Klinefelter's syndrome?"

"Have you ever been diagnosed with an aortic aneurysm?"

"Have you ever been diagnosed with appendicitis?"

"Have you had your appendix removed?"

"Do you have any form of arthritis?"

"Have you ever been diagnosed with atrial fibrillation?"

"Have you ever been diagnosed with an autoimmune disease?"

"Have you ever been diagnosed with autoimmune hepatitis?"

"How many hours of sleep do you get on a typical night?"

"Have you ever been able to do a backbend kickover? (A backbend kickover involves bending
backwards until your hands reach the floor, and then kicking your legs over your head to land
behind your hands.) "

"Have you ever had bacterial meningitis?"

"Have you ever been diagnosed with basal cell carcinoma? "

                                               31
"How often did you wet the bed as a child?"

"Have you ever been diagnosed with benign prostatic hyperplasia?"

"Excluding any orthodontic correction, do you naturally have..."

"Have you ever been diagnosed with bladder cancer?"

"As an adult, do you have naturally blond hair? If you have already gone gray, please answer for
before you went gray."

"How often do you donate blood?"

"Are you currently taking any medications to lower your blood pressure? "

"Are you currently taking any medications to lower or control your blood sugar?"

"What is your blood type?"

"Do you have blue eyes? "

"How would you describe your body type?"

"Have you ever been diagnosed with gout?"

"Have you ever worn braces on your teeth? "

"Have you ever been told by a doctor that you had a brain (intracranial) aneurysm?"

"How old were you when you had your first menstrual period?"

"Have you ever been diagnosed with breast cancer?"

"How many times have you had bronchitis?"

"Do you have brown eyes? "

"Do you bruise easily?"

"Have you ever had a bunion (an enlargement of the bone or tissue around the joint at the base
of the big toe)?"

"Does drinking a caffeinated beverage in the evening usually make it difficult for you to get to
sleep that night? "

"How many car accidents have you been in, in which you were driving?"

"Have you ever been diagnosed with carpal tunnel syndrome?"

"Have you ever been diagnosed with carpal tunnel syndrome?"


                                               32
"Can you carry a tune?"

"Have you ever been able to do a cartwheel?"

"Have you ever been able to do a cartwheel?"

"How often do you have dry, itchy skin?"

"How old were you when your voice began to crack/deepen?"

"Have you ever had chicken pox?"

"Have you ever received the chicken pox vaccine?"

"Have you ever been told by a doctor that you had low sperm motility (asthenospermia)?"

"Do you prefer milk or dark chocolate?"

"Are you currently taking any medications to lower your cholesterol?"

"Are you currently taking any medications to treat chronic constipation? "

"Have you ever been told by a doctor that you had no sperm in your ejaculate (azoospermia)?"

"Have you ever had surgery for chronic sinus infections?"

"Do you like the taste of fresh (not dried) cilantro?"

"Does fresh cilantro taste like soap to you?"

"Have you ever been diagnosed with a cleft lip?"

"Were you born with a cleft palate?"

"Have you ever been diagnosed with clinical depression?"

"Are you currently taking any proton pump inhibitors, such as Nexium, Prevacid, Prilosec,
Protonix, Aciphex, or generic versions (e.g. omeprazole) of these drugs? "

"How many colds did you get over the last year? Do NOT include bouts of the flu."

"Have you ever been diagnosed with colorectal cancer (colon cancer and/or rectal cancer)? "

"Are you currently using any form of hormonal birth control (such as the pill, the patch, or an
depo provera shot)?"

"Have you ever been diagnosed with a congenital heart defect by a medical professional?"

"Do you wear contact lenses for purely cosmetic reasons? "

"Do you wear contact lenses to correct your vision?"

                                                 33
"Have you ever been diagnosed with chronic kidney disease?"

"How much do your eyes water when cutting onions? "

"Do you cry easily?"

"Is your desk typically... "

"Does your hair become more wavy or curly in humid weather?"

"Do you currently smoke cigarettes?"

"Do you take an aspirin every day?"

"How often do you have dandruff? (If you use treatments for your dandruff, please answer for
the frequency of occurrence without treatment.)"

"Have you ever been diagnosed with a chromosomal abnormality?"

"Have you ever lived for at least six months in a country where dengue fever (also known as
break-bone fever) was endemic? "

"Have you ever been diagnosed with dengue fever (sometimes known as break-bone fever)? "

"How many 12 oz. cans or the equivalent of diet soda do you drink on a typical day?"

"Have you ever dislocated your shoulder?"

"Do you frequently have acid reflux/heartburn? "

"Have you ever been told by a doctor that you had a diminished ovarian reserve for your age?"

"How often do you wear ear plugs to help you get to sleep? "

"Have you ever been diagnosed with elbow tendinitis (also called tennis or golfer's elbow)?"

"Have you ever been told by an eye doctor that you have elevated intraocular pressure
(elevated pressure in your eye)? "

"Have you ever been diagnosed with esophageal cancer? "

"Have you ever smoked cigarettes on a regular basis?"

"Have you ever been diagnosed with celiac disease, as confirmed by a biopsy of the small
intestine? If your diagnosis was not confirmed by a biopsy, please select no."

"How introverted or extroverted are you?"

"If you shave your face, how many long does it take for you to develop noticeable stubble?"

"Is one of your feet a different shoe size from the other?"

                                               34
"If you were to select a shampoo for your hair type, which shampoo would you select?"

"How often do you floss your teeth?"

"Do you frequently have problems with foot odor?"

"Have you ever been able to do the forward splits (one leg to the front, and one leg behind)? "

"Do you have a fraternal (non-identical) twin?"

"Do you like the taste of fresh cantaloupe?"

"Have you ever been told that you had elevated FSH (follicle stimulating hormone) for your
age? "

"Would your close friends say you are... "

"Does your hair become frizzy in humid weather? "

"Have you ever been diagnosed with endometriosis?"

"Have you ever had a ganglion cyst on your foot?"

"Have you ever had a ganglion cyst on your wrist?"

"Excluding any orthodontic correction, do you have a noticeable gap between your front teeth
(your upper two frontmost teeth)? "

"Have you ever suffered from gastroesophageal reflux disease (GERD)?"

"Have you ever been diagnosed with gestational diabetes (high blood sugar levels during
pregnancy)?"

"Have you ever been told that you have gum disease (gingivitis)? "

"Have you ever been diagnosed with glioma? "

"Do you have a good sense of direction?"

"Have you ever been diagnosed with Goodpasture's syndrome?"

"On most nights, do you snore? "

"How much gray do you have in your hair? (If you dye your hair, please describe your hair's
appearance without dye)"

"Have you ever been diagnosed with Guillain-Barre syndrome?"

"Have you ever given birth to multiples, (twins, triplets), etc.?"

"Were you born in the country where you currently reside?"

                                                 35
"Do you have excess hair growth on your upper lip, chin, lower abdomen, or inner thighs? "

"When you shave your face, how long before the shaved areas feel rough, like sandpaper?"

"Have you ever been told by a doctor that your thyroid stimulating hormone (TSH) levels were
elevated, indicating hypothyroidism? "

"When you travel, do you prefer your itinerary to be planned in advance or spontaneous?"

"Do you currently take medication for hypothyroidism (low thyroid hormone levels)?"

"Have you ever been diagnosed with hypothyroidism (underactive thyroid)? "

"Have you ever been diagnosed with Irritable Bowel Syndrome (IBS)? "

"Do you have an identical twin?"

"Have you ever been diagnosed or treated for infertility or subfertility?"

"How many tiny red bumps from ingrown hairs do you have on the back of your legs or the back
of your arms?"

"Do you routinely have trouble getting to sleep at night?"

"Do you take insulin on a regular basis? "

"Have you ever been treated for intestinal parasites/worms?"

"Have you ever received radioactive iodine treatment for goiter or hyperthyroidism (overactive
thyroid)? "

"Have you and your current or former partner ever undergone IVF (in vitro fertilization)?"

"Have you ever been diagnosed with a kidney infection?"

"Have you ever been diagnosed with kidney stones?"

"Have you ever been diagnosed with larynx cancer (cancer affecting your voice box)? "

"Have you learned a foreign language as an adult (age 18 and above)?"

"If you shave your legs, how long before the shaved areas feel rough, like sandpaper?"

"Are you legally blind?"

"Do you like the taste of dark licorice?"

"How satisfied are you with your life?"

"Have you ever had liposuction? "


                                                36
"Have you ever lived for at least six months in a country where dengue fever (also known as
break-bone fever) was endemic? "

"Have you ever lost 20 lbs. (10 kg.) or more and kept the weight off for at least one year? "

"Have you ever been diagnosed with Lou Gehrig's disease (ALS)? "

"Have you ever used hormone replacement therapy?"

"Has a doctor ever told you that you needed to lower your cholesterol?"

"How often do you bite your nails?"

"Have you ever taken medication to prevent malaria? "

"Have you ever been diagnosed with mania (been told by a medical professional that you were
having a manic episode)? "

"Has your biological mother ever been diagnosed with clinical depression?"

"Excluding statistics courses, what is the most advanced math class you have successfully
completed?"

"Have you ever been diagnosed with melanoma? "

"Have you ever served in the military?"

"Have you ever been diagnosed with mitral valve prolapse?"

"Have you ever been told by a doctor that you had elevated levels of androgens
(hyperandrogenism)?"

"Have you ever physically enacted dream-related behaviors, such as punching, kicking, leaping,
or running, while still asleep?"

"Have you ever been diagnosed with any form of macular degeneration (AMD)? "

"Have you ever cheated on a long term relationship partner or spouse?"

"Did you wear glasses or other corrective eyewear for nearsightedness before the age of 10?"

"Have you ever been diagnosed with neuroblastoma?"

"Do you frequently develop nose bleeds?"

"Have you ever taken a non-steroidal anti-inflammatory drug (such as ibuprofen, naproxen, or
aspirin) on a regular basis?"

"Do your extremities (hands, arms, legs, or feet) often go numb or become tingly?"

"How many of your wisdom teeth have grown in?"

                                                37
"How many of your wisdom teeth have you had removed?"

"Have you ever taken an oral corticosteroid medication, such as prednisone or prednisolone?"

"Do you take pleasure in organizing your stuff, such as your papers, clothes, or books?"

"Do you use a hearing aid?"

"Do you own a cat?"

"Do you own a dog?"

"Have you ever been diagnosed with a panic disorder?"

"What was the socioeconomic status of your parents and/or legal guardians when you were a
child?"

"Were both your parents born in the country where you currently reside?"

"Are your biological parents..."

"Did you have several ear infections as a child (under the age of 18)?"

"Have you ever been diagnosed with patellar tendinitis?"

“Excluding any dental correction, do you have small or "peg" lateral incisors on your BOTTOM
row of teeth? (Lateral incisors are the teeth adjacent to your two frontmost teeth, one on each
side)”

“Excluding any dental correction, do you have small or "peg" lateral incisors on your TOP row of
teeth? (Lateral incisors are the teeth adjacent to your two frontmost teeth, one on each side)”

"Do you have perfect pitch?"

"Have you ever had a job that involved working with pesticides?"

"Have you ever had plantar fasciitis? "

"How many times have you had plantar warts on the soles of your feet?"

"Did you learn to play a musical instrument before the age of 8?"

"Do you play a musical instrument?"

"How many times have you had pneumonia?"

"How would you describe your political views?"

"Have you ever been diagnosed with polymyalgia rheumatica?"

"Do you have poor circulation?"

                                               38
"Have you ever suffered from postpartum depression?"

"Have you ever had your uterus removed (hysterectomy)? "

"Have you ever been diagnosed with high blood pressure or preeclampsia during pregnancy?"

"How frequently do you have difficulty remembering or recognizing people's faces?"

"Have you ever been diagnosed with prostate cancer?"

"Have you ever been diagnosed with psoriasis?"

"Have you ever been diagnosed with post-traumatic stress disorder?"

"For your social appointments, are you typically..."

"After getting a cut or a burn, do you often develop scars that are raised, red, pink or purple,
stiffer than the surrounding tissue, and perhaps wider than the original injury?"

"Have you ever been diagnosed with Raynaud's disease or syndrome?"

"When you feel mentally drained, do you prefer to recharge your batteries by..."

"Has a doctor you ever told you that you had abnormally low testosterone?"

"Does your body or facial hair have a reddish tinge? If your body hair is currently gray, please
answer for your hair color before it went gray."

"Are you red green colorblind?"

"As an adult, is your natural hair color red or reddish (e.g., strawberry blond, auburn)? If you
have gone gray, please answer for before you went gray."

"During a typical week, how often do you eat red meat?"

"Does drinking one or two glasses of red wine give you a headache shortly after ingestion?"

"Does drinking red wine typically cause you to sneeze?"

"How many 12 oz. cans or the equivalent of regular, not diet, soda do you drink on a typical
day?"

"Have any of your first degree biological relatives (i.e., children, parents, siblings) been
diagnosed with an autoimmune disease?"

"Have any of your first degree biological relatives (e.g., children, parents, siblings) had a heart
attack?"

"Have any of your first degree biological relatives (i.e., parents, children, siblings) been
diagnosed with lung cancer?"

                                                 39
"Have any of your first degree biological relatives (i.e., parents, children, siblings) been
diagnosed with type II diabetes?"

"How would you describe your religious beliefs?"

"Do you like the taste of fresh cucumbers?"

"What is your resting heart rate (heart rate while sitting still)?"

"Have you ever been diagnosed with restless leg syndrome?"

"Have you ever been diagnosed with retinal detachment that was NOT caused by a physical
trauma, such as a concussion or blow to the eye area?"

"What is your Rhesus blood type?"

"Have you ever been diagnosed with rheumatoid arthritis?"

"Have you ever been diagnosed with a rotator cuff tear?"

"Have you ever run a marathon?"

"Have you ever been diagnosed with sarcoidosis?"

"Do you have a first degree relative (mother, father, child, or sibling) who has been diagnosed
with a type of sarcoma?"

"Have you ever been diagnosed with scarlet fever?"

"When living in a climate that does not get much sunlight in the winter, do you tend to become
depressed during the winter months? "

"Are you exposed to second-hand smoke in your home?"

"Are you exposed to second-hand smoke at work?"

"How would you rate your mathematical ability?"

"Have you ever been pregnant with multiples (twins, triplets, etc.)?"

"Have you ever had shin splints? "

"Are you out of breath after walking up a flight of stairs?"

"Have you ever been able to do the side splits (both legs face sideways)?"

"When asked, can you sing back any note you just heard? "

"Have you ever skydived?"

"Have you ever been diagnosed with sleep apnea? "

                                                 40
"Do you take medication to help you sleep at night?"

"How many hours of sleep do you feel like you need to function well during the day?"

"How often do you sleep walk? "

"Can you wiggle your nose? "

"If something goes wrong in your life, do you feel that you have someone to turn to?"

"Are you a sound sleeper (generally able to sleep through noise and other disturbances)? "

"How often do you have the urge to clear your throat and spit?"

"Are you currently taking an SSRI (selective serotonin reuptake inhibitor) for any reason?"

"Have you ever been diagnosed with stomach cancer? "

"Do you have, or have you ever had, strabismus (one eye that points in a different direction
from the other)?"

"How many times have you been told by a doctor that you had strep throat?"

"How many babies have you given birth to?"

"Have you ever had surgery to prevent your shoulder from dislocating? "

"Do you have a sun allergy (i.e., does even a small amount of sun exposure cause you to
develop itchy, red rash accompanied by blistering, hives, or bleeding under the skin)? This rash
is different from a typical sunburn."

"When you work out at a high capacity (breathing heavily enough that it would be hard to
maintain a conversation), how much do you sweat?"

"Even when sleeping at room temperature, do you sweat a noticeable amount while asleep?"

"Do you typically have sweaty palms?"

"Are you afraid of heights?"

"How often do you talk in your sleep? "

"If forced to choose, would you say you generally prefer to talk or to listen?"

"How many times have you used a tanning bed?"

"What foods are you allergic to?"

"What drugs are you allergic to?"

"What drugs have you ever taken to treat depression?"

                                                41
"Do you have a third nipple? (If you have had your third nipple removed or if you have more
than 3 nipples, please answer yes.)"

"Have you ever been diagnosed with thyroid cancer?"

"Have you ever had all or part of your thyroid surgically removed?"

"Do you take any thyroid hormone replacement medications (such as Levothroid, Levoxyl, or
Synthroid)?"

"Do you experience frequent or prolonged tinnitus (ringing in the ears) that is not caused by a
specific medication?"

"Have you had your tonsils removed?"

"Have you ever been diagnosed with Tourette syndrome? "

"How many miscarriages have you had?"

"Have you ever been diagnosed with trigeminal neuralgia?"

"Have you ever been told by a doctor that your thyroid stimulating hormone (TSH) levels were
elevated, indicating hypothyroidism?"

"Do you have type 1 diabetes (sometimes called juvenile diabetes)? "

"Have you ever been told by a medical professional that you had a heart attack (myocardial
infarction)?"

"Have you ever taken intranasal (nose spray) Zicam for colds or allergies?"

"How many times have you had a urinary tract infection (UTI)? (Please only count UTIs that
were diagnosed by a urine test and treated with antibiotics.)"

"How many vaginal yeast infections have you had in your life?"

"Do you have varicose veins on your legs?"

"How many times have you been pregnant?"

"Are you an ovo-lacto vegetarian (a vegetarian who eats eggs and milk)?"

"Do you take a multivitamin most days?"

"Have you ever taken warfarin (Coumadin, Jantoven, Marevan, Lawarin, or Waran)?"

"Have you ever been diagnosed with Wegener's granulomatosis?"

"How would you describe your current weight?"



                                               42
"Have you ever been diagnosed with wet macular degeneration (AMD)? Wet macular
degeneration is treated with anti-angiogenics such as ranibizumab (Lucentis), bevacizumab
(Avastin), and pegaptanib (Macugen). "

"How much do you like the taste of straight (neat) whisky/scotch (i.e., whisky that is NOT mixed
with water or other liquids)?"

"Can you whistle?"

"Can you wiggle your ears?"

"Have you ever been told by a doctor that you had a low sperm count (oligozoospermia)? "

"Have you had any of your wisdom teeth removed?"

"Has a doctor ever diagnosed you with Parkinson's disease?"

"Has a doctor ever diagnosed you with Turner syndrome?"

"Have you ever been told by a doctor that you had cysts on your ovaries?"

"Before going through puberty, did you develop a grey streak of hair down your center part
line?"

"Compared to others of the same age and sex, how physically attractive do you think you are?"

"Compared to others of the same age and sex, how empathetic are you?"

"How much do you like spicy hot food?"

"Have you ever had a stammer or stutter?"

"Can you curl, “roll”, up the sides of your tongue to form a U shape?"

"Have you ever been diagnosed with PCOS (Polycystic Ovary Syndrome)?"

"In a typical week, how often do you eat chocolate?"

"Have you ever been diagnosed with narcolepsy?"

"Do you shave your facial hair?"

"Do you shave your legs?"

"Do you have darkening of the skin on your armpits, the back of your neck, or under your
breasts?"

"On a typical day, how many servings of fresh or cooked fruit (excluding fruit juice) do you eat?
One serving equals about half a cup."



                                               43
"On a typical day, how many servings of fresh or cooked vegetables do you eat? One serving
equals about half a cup."

"How often do milk or other dairy products give you indigestion?"

"Which best describes your natural eye color?"

"In a typical week, how often do you eat fast food?"

"How many freckles do you have?"

"In a typical week, how often do you drink fruit juice, such as apple or orange juice?"

"Which best describes the natural color of your hair? (Please answer for before you went gray,
if you are gray now.)"

"Is your hair naturally straight or curly?"

"Are you left- or right-handed?"

"In a typical week, how often do you eat ice cream (including frozen yogurt and low fat ice
cream)?"

"Are you lactose intolerant?"

"In a typical week, how often do you eat leafy green vegetables, such as lettuce, spinach, or
kale?"

"When you are sitting, how often do you jiggle your leg for no apparent reason?"

"Does the sound of other people chewing fill you with rage?"

"When in a happy long term relationship, how difficult is it for you to remain faithful?"

"As a child, how often did you experience motion sickness while on a boat (sea sickness)?"

"As a child, how often did you experience motion sickness while in a car?"

"As a child, how often did you experience motion sickness while on a plane?"

"How often do you experience motion sickness while on a boat (sea sickness)?"

"How often do you experience motion sickness while in a car?"

"How often do you experience motion sickness while on a plane?"

"Have you ever been told by a dentist that you needed braces to straighten your teeth?"

"Are you naturally a night person or a morning person?"

"How many cavities have you had?"

                                                44
"Do you have an os trigonum (extra bone behind your ankle bone)?"

"In a typical week, how often do you eat cookies or pastries, such as scones, croissants,
brownies, or muffins?"

"Do you have a tendency to sneeze when exposed to bright sunlight?"

"Were you born with an extra finger?"

"Have you even been diagnosed with posterior ankle (posterior talar) impingement?"

"Which best describes the amount of red in your hair? (Please answer for before you went gray,
if you are gray now.)"

"In a typical week, how often do you eat red meat?"

"How much do you agree with the statement, “All in all, I am inclined to feel that I am a
failure”?"

"How much do you agree with the statement, “On the whole, I am satisfied with myself”?"

"When you're in the mood for a snack, what kind of snack do you usually reach for?"

"Have you ever been diagnosed with TMJ (temporomandibular joint disorder)?"

"When you clasp your hands together comfortably, which thumb is on top?"

"Have you ever had to wear contact lenses or eye glasses?"

"Have you ever been told by a dentist that you needed to have your wisdom teeth removed for
medical reasons?"

"In a typical week, how often do you eat yogurt?"

"Have you ever been told by a doctor that you had low sperm morphology or a high percentage
of abnormally shaped sperm (teratozoospermia)?"

"Have you ever been diagnosed with ulcerative colitis?"

"Are you a vegan (someone who does not eat any animal products, including eggs and milk)?"

"Are you married or living with a domestic partner?"

"Do you have thickening of the skin on your armpits, the back of your neck, or under your
breasts?"

"Do you have multiple sclerosis?"

"Are you allergic to peanuts?"

"Have you ever been diagnosed with systemic lupus erythematosus (SLE)? "

                                               45
"Were you born with an undescended testicle or testicles? "

"Have you experienced hair loss or thinning of the hair on your head?"

"Can you read in a moving car without becoming nauseated?"

"Have you ever taken finasteride (Propecia/Proscar) or dutasteride (Avodart/Avolve) for any
reason?"

"Have you ever been diagnosed with hypertrophic cardiomyopathy (thickening of the heart
muscle)?"

"Have you ever been diagnosed with exfoliation glaucoma? "

"Have you ever been diagnosed with unexplained infertility? "

"Have you ever been diagnosed with Crohn's disease?"

"Have you ever been diagnosed with Dupuytren's contracture?"

"Have you ever been diagnosed with uterine fibroids?"

"Have you ever received chemotherapy?"

"Have you ever been diagnosed with a varicocele (an enlargement of the veins in your
testicle(s))?"

"Have you ever been told by a medical professional that your HDL (so-called good cholesterol)
is too low? "

"Were you undergoing fertility treatment when you become pregnant with multiples?"

"Have you ever been diagnosed with Rapid Eye Movement (REM) sleep behavior disorder? "

"How many vaginal yeast infections have you had in your life?"

"Have you ever been diagnosed with otosclerosis (abnormal bone growth in the middle ear that
causes hearing loss)?"

"Were you born with impaired hearing?"

"When you are bitten by mosquitos, how much do the bites typically itch?"

"Have you ever been diagnosed with cluster headaches?"

"Does eating dark chocolate typically cause you to sneeze?"

"Are any of your biological children allergic to peanuts?"

"Have you ever been diagnosed with gallstones? "


                                                46
"Have you ever been diagnosed with trichotillomania (compulsive hair pulling)?"

"Have you ever been told by a doctor that you had a brain (intracranial) aneurysm?"

"Do you have stretch marks on your hips, thighs, or backs of your arms? "

"Have you ever been diagnosed with a lipoma (a benign tumor composed of fatty tissue)?"

"In a typical month, how often do you eat tilefish, king mackerel, tuna, swordfish, or shark?"

"How many metal (amalgam) dental fillings do you have?"

"Have you ever had a job in which you worked with petroleum products, such as benzene,
toluene, or gasoline?"

"Have you ever received radiation therapy to treat a cancer?"

"Which best describes the area or areas where you spent most of your childhood?"

"Have you ever been exposed to DDT?"

"Which best describes the area where you currently live?"

"Have you ever been exposed to the herbicide Agent Orange?"

"In a typical week, how often do you drink caffeinated beverages (tea, coffee, energy drinks, or
soda)?"

"How close do you live to the nearest active farm fields? Your best guess is fine."

"How close do you live to the nearest industrial park, factory, or power plant? Your best guess
is fine."

"How close do you live to the nearest freeway or expressway? Your best guess is fine."

"How often do you buy food at a drive through?"

"Which best describes your employment status?"

"Have you ever been diagnosed with fibromyalgia?"

"In a typical week, how often do you eat fish or shellfish?"

"Have you ever been diagnosed with hypospadias (a birth defect in which the opening of the
urethra, through which you urinate, is on the underside instead of the end of the penis)?"

"Over your lifetime, have you ever had a job in which you mixed, applied, or were exposed in
some other way to any type of pesticide, including herbicides (to kill weeds), fungicides (to kill
fungus/mold), insecticide (to kill insects), rodenticides (to kill rats/mice), or fumigants (gas used
to kill insects or fungus or plants)?"

                                                 47
"Have you ever been diagnosed with narcolepsy?"

"Have you ever been treated for intestinal parasites/worms?"

"Which best describes the area where you currently live?"

"Have you ever been exposed to the herbicide Agent Orange?"

"In a typical week, how often do you drink caffeinated beverages (tea, coffee, energy drinks, or
soda)?"

"Have you ever been exposed to DDT?"

"How close do you live to the nearest expressway? Your best guess"

"How close do you live to the nearest industrial park, factory, or power plant?"

"How often do you buy food at a drive through?"

"Which best describes your employment status?"

"Have you ever been diagnosed with fibromyalgia?"

"In a typical week, how often do you eat fish or shellfish?"

"Have you ever been diagnosed with hypospadias (a birth defect in which the opening of the
urethra, through which you urinate, is on the underside instead of the end of the penis)?"

"Have you ever been diagnosed with a lipoma (a benign tumor composed of fatty tissue)?"

"In a typical month, how often do you eat tilefish, king mackerel, tuna, swordfish, or shark?"

"How many metal (amalgam) dental fillings do you have?"

"Over your lifetime, have you ever had a job in which you mixed, applied, or were exposed in
some other way to any type of pesticide, including herbicides (to kill weeds), fungicides (to kill
fungus/mold), insecticide (to kill insects), rodenticides(to kill rats/mice), or fumigants (gas used
to kill insects or fungus or plants)?"

"Have you ever had a job in which you worked with petroleum products, such as benzene,
toluene, or gasoline?"

"Have you ever received radiation therapy to treat a cancer?"

"Which best describes the area or areas where you spent most of your childhood?"

"How close do you live to the nearest active farm fields? Your best guess"
"How close do you live to the nearest freeway or expressway? Your best guess"



                                                 48
Bibliography of 23andMe Scientific Publications

(Submitted) Hinds DA, McMahon G, Kiefer AK, Do CB, Eriksson N, Evans DM, St Pourcain B, Ring
SM, Mountain JL, Francke U, Davey-Smith G, Timpson NJ*, Tung JY*. “A meta-analysis of self-
reported allergy identifies shared and allergy-specific susceptibility loci.”

(Submitted) Tung JY, Kiefer AK, Mullins M, Francke U, Eriksson N. “Variants near elastic
microfibril genes are associated with non-syndromic striae distensae.”

(Preprint) Kiefer AK, Tung JY, Do CB, Hinds DA, Mountain JL, Francke U, and N. Eriksson.
“Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and
neuronal development in myopia.” arXiv:1209.2089

(Preprint) Eriksson N, Wu S, Do CB, Kiefer AK, Tung JY, Mountain JL, Hinds DA, Francke U. “A
genetic variant near olfactory receptor genes influences cilantro preference.” arXiv:1209.2096

Do CB, Hinds DA, Francke U, Eriksson N. “Comparison of Family History and SNPs for Predicting
Risk of Complex Disease.” PLoS Genet. 2012 Oct;8(10):e1002973.

Eriksson N, Benton GM, Do CB, Kiefer AK, Mountain JL, Hinds DA, Francke U, Tung JY. “Genetic
variants associated with breast size also influence breast cancer risk.” BMC Med Genet. 2012
Jun 30;13(1):53.

Li R, Brockschmidt FF, Kiefer AK, Stefansson H, Nyholt DR, Song K, Vermeulen SH, Kanoni S,
Glass D, Medland SE, Dimitriou M, Waterworth D, Tung JY, Geller F, Heilmann S, Hillmer AM,
Bataille V, Eigelshoven S, Hanneken S, Moebus S, Herold C, den Heijer M, Montgomery GW,
Deloukas P,Eriksson N, Heath AC, Becker T, Sulem P, Mangino M, Vollenweider P, Spector TD,
Dedoussis G, Martin NG, Kiemeney LA, Mooser V, Stefansson K, Hinds DA, Nöthen MM,
Richards JB. “Six novel susceptibility Loci for early-onset androgenetic alopecia and their
unexpected association with common diseases.” PLoS Genet. 2012 May;8(5):e1002746. Epub
2012 May 31.

Henn BM, Hon L, Macpherson JM, Eriksson N, Saxonov S, Pe'er I, Mountain JL. “Cryptic distant
relatives are common in both isolated and cosmopolitan genetic samples.” PLoS One.
2012;7(4):e34267.

Eriksson N, Tung JY, Kiefer AK, Hinds DA, Francke U, Mountain JL, Do CB. “Novel associations for
hypothyroidism include known autoimmune risk loci.” PLoS One. 2012;7(4):e34442.

Lill CM, Roehr JT, McQueen MB, Kavvoura FK, Bagade S, Schjeide BM, Schjeide LM, Meissner E,
Zauft U, Allen NC, Liu T, Schilling M, Anderson KJ, Beecham G, Berg D, Biernacka JM, Brice A,
DeStefano AL, Do CB, Eriksson N, Factor SA, Farrer MJ, Foroud T, Gasser T, Hamza T, Hardy JA,

                                               49
Heutink P, Hill-Burns EM, Klein C, Latourelle JC, Maraganore DM, Martin ER, Martinez M, Myers
RH, Nalls MA, Pankratz N, Payami H, Satake W, Scott WK, Sharma M, Singleton AB, Stefansson
K, Toda T, Tung JY, Vance J, Wood NW, Zabetian CP; 23andMe Genetic Epidemiology of
Parkinson's Disease Consortium; International Parkinson's Disease Genomics Consortium;
Parkinson's Disease GWAS Consortium; Wellcome Trust Case Control Consortium 2), Young P,
Tanzi RE, Khoury MJ, Zipp F, Lehrach H, Ioannidis JP, Bertram L. “Comprehensive research
synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.”
PLoS Genet. 2012 Mar;8(3):e1002548.

Tung JY, Do CB, Hinds DA, Kiefer AK, Macpherson JM, Chowdry AB, Francke U, Naughton BT,
Mountain JL, Wojcicki A, Eriksson N. “Efficient replication of over 180 genetic associations with
self-reported medical data.” PLoS One. 2011;6(8):e23473.

Do CB, Tung JY, Dorfman E, Kiefer AK, Drabant EM, Francke U, Mountain JL, Goldman SM,
Tanner CM, Langston JW, Wojcicki A, Eriksson N. “Web-based genome-wide association study
identifies two novel loci and a substantial genetic component for Parkinson's
disease.” PLoS Genet. 2011 Jun;7(6):e1002141.

Eriksson N, Macpherson JM, Tung JY, Hon LS, Naughton B, Saxonov S, Avey L, Wojcicki A, Pe'er I,
Mountain J. “Web-based, participant-driven studies yield novel genetic associations for
common traits.” PLoS Genet. 2010 Jun 24;6(6):e1000993.




                                               50

				
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