ID

45161

Beschreibung

Principal Investigator: David Ginsburg, MD, University of Michigan, Ann Arbor, MI, USA MeSH: von Willebrand Disease,Epistaxis,Stomatitis, Aphthous,Menarche,Menorrhagia,Acne Vulgaris,Eye Color,Hair Color,Sunburn,Skin Pigmentation,Freckles,Dental Caries,Migraine Disorders,Rhinitis, Allergic, Seasonal,Eye Diseases,Refractive Errors,Flatfoot,Functional Laterality,Venous Thromboembolism https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000304 *Objectives:* Use genome-wide approaches to identify genetic variants that influence common thrombosis and hemostasis factors, as well as selected common human traits. *Design/Methods:* The GABC study was a prospective sibling cohort design. Siblings were recruited by targeted email to the undergraduate and graduate student email lists at the University of Michigan. Healthy persons between 14 and 35 years old who had healthy siblings within the same age restriction were able to participate. Study participants agreed to an online informed consent and subsequently completed a 52-question online survey describing their specific bleeding traits as well as many common human traits. Fifty milliliters of blood was collected into a citrate-dextrose solution (ACD) from each participant. An aliquot of whole blood was used for an automated complete blood count analysis and the remainder was processed into platelet poor plasma and buffy coat portions. Plasma and buffy coat aliquots were snap frozen and stored in liquid nitrogen for future studies. 1189 individuals representing 507 sibships were collected between 06/26/2006 and 01/30/2009. *Phenotyping Survey Details:* To characterize individual bruising and bleeding history, the online survey recorded answers to questions based on a modified von Willebrand Disease (VWD) screening questionnaire. To characterize a collection of participant's common human traits, the survey recorded answers to questions about height, weight, presence of skin tags, history of acne, eye color, hair color, hair line characteristics, skin sunburn sensitivity, skin tanning ability, natural skin color, freckling, cheek dimpling, earlobe shape, shoe size, foot arch characteristics, hand fifth digit morphology, history of dyslexia, history of migraine headaches, history of seasonal allergies, history of apthous ulcers, tendency to sneeze while walking into a bright sunny place, history of dental caries, need for corrective eye lenses, handedness and like or dislike of strongly flavored foods. *Biochemical phenotyping:* Assays for plasma Von Willebrand Factor (VWF) antigen were performed using ELISA and "Alphalisa" techniques. Automated complete blood count analysis was performed on a Bayer Advia 120 on all participants (including WBC differential, RBC indices, and platelet count.) For the dbGaP v2 update, new biochemical phenotypes have been submitted and include von Willebrand Factor, von Willebrand Factor propeptide, plasminogen, gamma prime fibrinogen, ADAMTS 13, antithrombin III, protein C, and protein S. All new phenotypes were obtained using "Alphalisa" techniques. *Genotyping Details:* SNP genotyping was performed using genomic DNA extracted from peripheral blood at the Broad Institute, (MIT/Harvard). Genotyping was performed on the Illumina Omni-1 quad chip at the Broad Institute. For the dbGaP v2 update, genotyping data from the Illumina Human Exome was deposited. This study is part of the Gene Environment Association Studies initiative (GENEVA, http://www.genevastudy.org) funded by the trans-NIH Genes, Environment, and Health Initiative (GEI). The overarching goal is to identify novel genetic factors that contribute to blood clotting through large-scale genome-wide association studies of siblings. Genotyping was performed at the Broad Institute of MIT and Harvard, a GENEVA genotyping center. Data cleaning and harmonization was performed by the primary investigators at the University of Michigan, Ann Arbor, and at the GEI-funded GENEVA Coordinating Center at the University of Washington. This study serves as a resource for investigators who are interested in the genetic determinants of specific plasma proteins in a healthy population. The sibling cohort design allows for linkage analysis in addition to association studies. Analysis of thrombosis and hemostasis related traits should help elucidate specific biochemical and genetic networks that maintain hemostasis. We hope to identify specific genetic determinants of VWF levels in order to better understand the factors that influence the development of VWD.

Link

dbGaP study = phs000304

Stichworte

Versionen (2)
  1. 26.08.22 26.08.22 - Chiara Middel
  2. 12.10.22 12.10.22 - Adrian Schulz
Rechteinhaber

David Ginsburg, MD, University of Michigan, Ann Arbor, MI, USA

Hochgeladen am

12. Oktober 2022

DOI

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Lizenz

Creative Commons BY 4.0
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dbGaP phs000304 Genes and Blood Clotting Study (GABC)

Englisch

This subject phenotype data table includes variables of sociodemography (n=6 variables; age, sex, ancestry), bleeding history such as types of bleeding (n=6 variables) and bleeding related to surgery (n=7 variables), menstrual cycle and birth control use for female participants (n=4 variables), normal physically observable human traits (n=34 variables), blood measurements (n=20 variables), cigarette use (n=1 variable), and immunization/medications (n=2 variables).

6 Formulare  
pht001907
Beschreibung

pht001907

De-identified sibship ID number
Beschreibung

Family Id

Datentyp

text

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
De-identified Geneva consortium subject ID number
Beschreibung

Geneva Id

Datentyp

text

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
Participant age at enrollment
Beschreibung

Age

Datentyp

text

Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C0011008
UMLS CUI [1,3]
C1516879
Participant gender
Beschreibung

Sex

Datentyp

text

Alias
UMLS CUI [1,1]
C0079399
Participant weight at time of registration
Beschreibung

Weight

Datentyp

text

Alias
UMLS CUI [1,1]
C0005910
UMLS CUI [1,2]
C0011008
UMLS CUI [1,3]
C1514821
Participant height at time of registration
Beschreibung

Height

Datentyp

text

Alias
UMLS CUI [1,1]
C0005890
UMLS CUI [1,2]
C0011008
UMLS CUI [1,3]
C1514821
Self reported ethnicity
Beschreibung

Ancestry Type

Datentyp

text

Alias
UMLS CUI [1,1]
C0015031
UMLS CUI [1,2]
C2700446
Self reported ethnicity if more than one
Beschreibung

Ancestry-2

Datentyp

text

Alias
UMLS CUI [1,1]
C2700446
UMLS CUI [1,2]
C0015031
Self reported description of ethnicity
Beschreibung

Ancestry Description

Datentyp

string

Alias
UMLS CUI [1,1]
C2700446
UMLS CUI [1,2]
C0678257
UMLS CUI [1,3]
C0015031
Self report description of ethnicity if more than two
Beschreibung

Ancestry Description 2

Datentyp

text

Alias
UMLS CUI [1,1]
C2700446
UMLS CUI [1,2]
C0678257
UMLS CUI [1,3]
C0015031
Elapsed time between online informed consent document page loading and clicking "Agree" button
Beschreibung

Consent Time

Datentyp

text

Maßeinheiten
  • seconds
Alias
UMLS CUI [1,1]
C2826303
UMLS CUI [1,2]
C0021430
UMLS CUI [1,3]
C4684811
UMLS CUI [1,4]
C3641827
seconds
Do you currently smoke cigarettes?
Beschreibung

Cigarette smoke

Datentyp

text

Alias
UMLS CUI [1,1]
C1519386
UMLS CUI [1,2]
C0521116
Have you been immunized (received a vaccine shot) in the last month?
Beschreibung

Immunization

Datentyp

text

Alias
UMLS CUI [1,1]
C2368628
UMLS CUI [1,2]
C4331910
Please check all the medications listed below that you have used more than twice in the past month.
Beschreibung

Medications

Datentyp

text

Alias
UMLS CUI [1,1]
C0240320
UMLS CUI [1,2]
C4331910
How many spontaneous (that seem to happen for no reason) nosebleeds would you estimate you have had in your entire life?
Beschreibung

Lifetime nosebleed

Datentyp

text

Alias
UMLS CUI [1,1]
C0205359
UMLS CUI [1,2]
C0014591
UMLS CUI [1,3]
C1265611
UMLS CUI [1,4]
C4071830
Compared to other people, when you get a minor cut or nose bleed, do you think that you bleed less, about the same, or more? Please consider the amount of bleeding and the length of time you bleed.
Beschreibung

Comparative bleeding

Datentyp

text

Alias
UMLS CUI [1,1]
C1458140
UMLS CUI [1,2]
C0205217
UMLS CUI [2,1]
C1458140
UMLS CUI [2,2]
C0205216
UMLS CUI [3,1]
C1458140
UMLS CUI [3,2]
C0445247
How often do you bruise without trauma or injury? In other words, how often do you get bruises that seem to happen for no reason?
Beschreibung

Spontaneous Bruising

Datentyp

text

Alias
UMLS CUI [1,1]
C0423798
When you brush your teeth how often do you notice bleeding from your gums?
Beschreibung

Gum Bleeding

Datentyp

text

Alias
UMLS CUI [1,1]
C4314322
Have you ever had a tooth extracted (pulled out) or any other dental surgery?
Beschreibung

Tooth extraction

Datentyp

text

Alias
UMLS CUI [1,1]
C0040440
UMLS CUI [1,2]
C0204324
When you had your tooth pulled (or had other dental surgery), did you have a problem with too much bleeding?
Beschreibung

Bleeding with Tooth extraction

Datentyp

text

Alias
UMLS CUI [1,1]
C0204324
UMLS CUI [1,2]
C0009566
UMLS CUI [1,3]
C0019080
When you had your tooth pulled (or had other dental surgery), did your doctor or you have to do something to stop the bleeding?
Beschreibung

Bleeding treatment with Tooth extraction

Datentyp

text

Alias
UMLS CUI [1,1]
C0204324
UMLS CUI [1,2]
C3819139
UMLS CUI [1,3]
C2746065
UMLS CUI [1,4]
C0019080
Have you ever had surgery or any other operation not including dental surgery?
Beschreibung

Surgery

Datentyp

text

Alias
UMLS CUI [1,1]
C0543467
UMLS CUI [1,2]
C1444637
Have you ever had problems with bleeding following any surgery?
Beschreibung

Bleeding with Surgery

Datentyp

text

Alias
UMLS CUI [1,1]
C0009566
UMLS CUI [1,2]
C0019080
UMLS CUI [1,3]
C0543467
Has your doctor or you ever had to do something to stop bleeding after surgery?
Beschreibung

Bleeding treatment with surgery

Datentyp

text

Alias
UMLS CUI [1,1]
C0543467
UMLS CUI [1,2]
C3819139
UMLS CUI [1,3]
C2746065
UMLS CUI [1,4]
C0019080
Have you ever had medical treatment to stop bleeding that was not associated with surgery? This includes incidents when you may have injured yourself, received vaccinations or injections, or had any part of your body pierced.
Beschreibung

Bleeding treatment, non-surgical

Datentyp

text

Alias
UMLS CUI [1,1]
C0087111
UMLS CUI [1,2]
C2746065
UMLS CUI [1,3]
C0019080
UMLS CUI [1,4]
C3263723
UMLS CUI [1,5]
C0042196
UMLS CUI [1,6]
C0848128
When you go to the dentist, about how much do you bleed from your gums? Would you say it is more, about the same, or less than most people your age?
Beschreibung

Comparative dental bleeding

Datentyp

text

Alias
UMLS CUI [1,1]
C0545082
UMLS CUI [1,2]
C0011441
UMLS CUI [1,3]
C0017565
UMLS CUI [1,4]
C1458140
UMLS CUI [1,5]
C0205217
UMLS CUI [2,1]
C0545082
UMLS CUI [2,2]
C0011441
UMLS CUI [2,3]
C0017565
UMLS CUI [2,4]
C1458140
UMLS CUI [2,5]
C0205216
UMLS CUI [3,1]
C0545082
UMLS CUI [3,2]
C0011441
UMLS CUI [3,3]
C0017565
UMLS CUI [3,4]
C1458140
UMLS CUI [3,5]
C0445247
At what age did you have your first period?
Beschreibung

Menarche

Datentyp

text

Alias
UMLS CUI [1,1]
C3173157
On average, how many days do your periods last?
Beschreibung

Menstrual duration

Datentyp

text

Alias
UMLS CUI [1,1]
C1510992
UMLS CUI [1,2]
C0425943
How frequently do you change pads/tampons on the heaviest days of your periods?
Beschreibung

Menstrual heaviness

Datentyp

text

Alias
UMLS CUI [1,1]
C4319952
UMLS CUI [1,2]
C0182158
UMLS CUI [1,3]
C0039288
UMLS CUI [1,4]
C4478300
Do you use hormonal birth control (pill, patch, ring, or shot)?
Beschreibung

Hormonal birth control

Datentyp

text

Alias
UMLS CUI [1,1]
C2985296
Skin tags are small, normal extra pieces of skin most commonly found on the neck or under arm. How many skin tags do you have?
Beschreibung

Skin tags

Datentyp

text

Alias
UMLS CUI [1,1]
C1265611
UMLS CUI [1,2]
C0037293
Many people have some acne during their teenage years. Which picture best describes your acne as a teenager?
Beschreibung

Acne

Datentyp

text

Alias
UMLS CUI [1,1]
C0702166
UMLS CUI [1,2]
C0001578
Which picture best describes your natural eye color?
Beschreibung

Eye color

Datentyp

text

Alias
UMLS CUI [1,1]
C0205296
UMLS CUI [1,2]
C0015392
UMLS CUI [1,3]
C0031911
Which picture best describes your natural hair color (prior to graying)?
Beschreibung

Hair color

Datentyp

text

Alias
UMLS CUI [1,1]
C0205296
UMLS CUI [1,2]
C0018498
Which picture best describes your current hair line?
Beschreibung

Hair line

Datentyp

text

Alias
UMLS CUI [1,1]
C3846158
What would happen to your skin if it were exposed to bright sunlight for the first time in summer for one hour at noon without protection? Would your skin become:
Beschreibung

Skin sensitivity to sun

Datentyp

text

Alias
UMLS CUI [1,1]
C0392747
UMLS CUI [1,2]
C1123023
UMLS CUI [1,3]
C1456711
UMLS CUI [1,4]
C0332288
UMLS CUI [1,5]
C1545588
What would happen to your skin if it was repeatedly exposed to bright sunlight without protection? Would your skin become:
Beschreibung

Tanning

Datentyp

text

Alias
UMLS CUI [1,1]
C0392747
UMLS CUI [1,2]
C1123023
UMLS CUI [1,3]
C0205341
UMLS CUI [1,4]
C1456711
UMLS CUI [1,5]
C0332288
UMLS CUI [1,6]
C1545588
Which best describes the color of the skin on the inside of your upper arm? In other words, what is your natural skin color without any tanning?
Beschreibung

Skin color

Datentyp

text

Alias
UMLS CUI [1,1]
C0205296
UMLS CUI [1,2]
C0599910
UMLS CUI [1,3]
C0332288
UMLS CUI [1,4]
C0302595
Which picture best describes the amount of freckles you have?
Beschreibung

Freckles

Datentyp

text

Alias
UMLS CUI [1,1]
C0016689
UMLS CUI [1,2]
C1265611
Are your ear lobes creased?
Beschreibung

Ear lobe creased

Datentyp

text

Alias
UMLS CUI [1,1]
C0229315
UMLS CUI [1,2]
C0459397
Which word best describes your ear lobes -- free or attached?
Beschreibung

Ear lobe attachment

Datentyp

text

Alias
UMLS CUI [1,1]
C0229315
Can you roll your tongue?
Beschreibung

Tongue roll

Datentyp

text

Alias
UMLS CUI [1,1]
C0233596
UMLS CUI [1,2]
C0332149
Do you have dimples on your face?
Beschreibung

Dimples

Datentyp

text

Alias
UMLS CUI [1,1]
C0332471
Do you have dyslexia (difficulty with reading)?
Beschreibung

Dyslexia

Datentyp

text

Alias
UMLS CUI [1,1]
C0476254
How many dental cavities have you ever had?
Beschreibung

Dental caries

Datentyp

text

Alias
UMLS CUI [1,1]
C0011334
UMLS CUI [1,2]
C0011403
UMLS CUI [1,3]
C1265611
Have you been diagnosed with migraines by a physician?
Beschreibung

Migraines

Datentyp

text

Alias
UMLS CUI [1,1]
C0011900
UMLS CUI [1,2]
C0149931
Have you ever been treated for stuttering by a speech therapist?
Beschreibung

Stuttering speech

Datentyp

text

Alias
UMLS CUI [1,1]
C0037831
UMLS CUI [1,2]
C0038506
Do you have itchy eyes, runny or stuffy nose, or sneezing in the fall or spring?
Beschreibung

Seasonal allergies

Datentyp

text

Alias
UMLS CUI [1,1]
C0022281
UMLS CUI [1,2]
C1260880
UMLS CUI [1,3]
C0027424
UMLS CUI [1,4]
C0037383
UMLS CUI [1,5]
C0238715
UMLS CUI [1,6]
C0241232
Do you wear prescription eye glasses or contact lenses?
Beschreibung

Vision correction

Datentyp

text

Alias
UMLS CUI [1,1]
C0947594
UMLS CUI [1,2]
C0562955
What is your US shoe size?
Beschreibung

Shoe Size

Datentyp

float

Alias
UMLS CUI [1,1]
C0426931
Do you have flat feet?
Beschreibung

Flat feet

Datentyp

text

Alias
UMLS CUI [1,1]
C0016202
Of the following colors, which is your favorite color?
Beschreibung

Favorite color

Datentyp

text

Alias
UMLS CUI [1,1]
C4531555
How much do you like to eat sweets?
Beschreibung

Eating Sweets

Datentyp

text

Alias
UMLS CUI [1,1]
C0556238
How much do you like to eat salty foods?
Beschreibung

Eating salty food

Datentyp

text

Alias
UMLS CUI [1,1]
C0453862
How would you describe your athletic ability?
Beschreibung

Athletic ability

Datentyp

text

Alias
UMLS CUI [1,1]
C0237919
With which hand do you write best?
Beschreibung

Handedness

Datentyp

text

Alias
UMLS CUI [1,1]
C3166759
UMLS CUI [1,2]
C0584992
Do you often feel like sneezing or sneeze upon walking out into bright sunlight?
Beschreibung

Photic sneeze

Datentyp

text

Alias
UMLS CUI [1,1]
C0037383
UMLS CUI [1,2]
C0038817
Do you experience a brief intense headache if you drink an icy beverage or eat ice cream too fast? AKA "brain freeze"
Beschreibung

Brain freeze

Datentyp

text

Alias
UMLS CUI [1,1]
C3160911
Can you easily separate your fingers as shown in this picture?
Beschreibung

Vulcan greeting

Datentyp

text

Alias
UMLS CUI [1,1]
C0016129
Interlock your fingers as shown in the picture. Which position feels comfortable to you?
Beschreibung

Interlocking fingers

Datentyp

text

Alias
UMLS CUI [1,1]
C0016129
UMLS CUI [1,2]
C1822395
Does the tip of your little finger (5th digit) bend toward your other fingers?
Beschreibung

5th digit clinodactyly

Datentyp

text

Alias
UMLS CUI [1,1]
C0560887
UMLS CUI [1,2]
C0230403
How many spontaneous (that seem to happen for no reason) nosebleeds would you estimate you have per year?
Beschreibung

Nosebleeds per year

Datentyp

text

Alias
UMLS CUI [1,1]
C0205359
UMLS CUI [1,2]
C0014591
UMLS CUI [1,3]
C1265611
UMLS CUI [1,4]
C0439508
How often do you get aphthous ulcers (canker sores)?
Beschreibung

Aphthous ulcers

Datentyp

text

Alias
UMLS CUI [1,1]
C3898838
UMLS CUI [1,2]
C0038363
Red blood cell count per microliter of whole blood
Beschreibung

RBC (x10E06cells/microliter)

Datentyp

float

Maßeinheiten
  • x10E06cells/microliter
Alias
UMLS CUI [1,1]
C0014772
x10E06cells/microliter
Hematocrit, percent of blood that is contained in the red blood cell pellet
Beschreibung

HCT (%)

Datentyp

float

Maßeinheiten
  • %
Alias
UMLS CUI [1,1]
C0518014
%
Mean corpuscular volume in femtoliters
Beschreibung

MCV (fL)

Datentyp

float

Maßeinheiten
  • femtoliters
Alias
UMLS CUI [1,1]
C1948043
femtoliters
Mean corpuscular hemoglobin in picograms
Beschreibung

MCH (pg)

Datentyp

float

Maßeinheiten
  • picograms
Alias
UMLS CUI [1,1]
C0474535
picograms
Mean corpuscular hemoglobin concentration in grams per deciliter
Beschreibung

MCHC (g/dL)

Datentyp

float

Maßeinheiten
  • grams per deciliter
Alias
UMLS CUI [1,1]
C0474535
grams per deciliter
Red blood cell width distribution, variance in percentage
Beschreibung

RDW (%)

Datentyp

float

Maßeinheiten
  • %
Alias
UMLS CUI [1,1]
C0427460
%
White blood cell count per microliter of whole blood
Beschreibung

WBC (x10E03cells/microliter)

Datentyp

float

Maßeinheiten
  • x10E03cells/microliter
Alias
UMLS CUI [1,1]
C0023508
x10E03cells/microliter
Hemoglobin concentration in grams per deciliter of whole blood
Beschreibung

HGB (g/dL)

Datentyp

float

Maßeinheiten
  • grams per deciliter
Alias
UMLS CUI [1,1]
C0019046
grams per deciliter
Platelet cell count per microliter of whole blood
Beschreibung

PLT (x10E03cells/microliter)

Datentyp

float

Maßeinheiten
  • x10E03cells/microliter
Alias
UMLS CUI [2,1]
C0032181
x10E03cells/microliter
Mean Platelet Volume
Beschreibung

MPV (fL)

Datentyp

float

Maßeinheiten
  • femtoliters
Alias
UMLS CUI [1,1]
C0200665
femtoliters
Von Willebrand Factor antigen level, percentage compared to laboratory standard
Beschreibung

VWF(%)

Datentyp

float

Maßeinheiten
  • %
Alias
UMLS CUI [1,1]
C1318684
%
Standard deviation of von Willebrand Factor antigen level
Beschreibung

VWF Std Dev

Datentyp

float

Alias
UMLS CUI [1,1]
C1318684
UMLS CUI [1,2]
C0871420
Von Willebrand Factor antigen level, percentage compared to pooled laboratory standard. Updated assay compared to VWF(%).
Beschreibung

VWF V2 (%)

Datentyp

float

Maßeinheiten
  • %
Alias
UMLS CUI [1,1]
C1318684
%
Von Willebrand Factor propeptide antigen level in International Units per deciliter. AlphaLISA using mAb 242.2 and 242.6
Beschreibung

VWFpp2 (IU/dL)

Datentyp

float

Maßeinheiten
  • IU/dL
Alias
UMLS CUI [1,1]
C5542104
IU/dL
Plasminogen antigen level in International Units per deciliter
Beschreibung

PLG (IU/dL)

Datentyp

float

Maßeinheiten
  • IU/dL
Alias
UMLS CUI [1,1]
C1318608
IU/dL
ADAMTS13 antigen level in International Units per deciliter
Beschreibung

ADAMTS13 IU/dL)

Datentyp

float

Maßeinheiten
  • IU/dL
Alias
UMLS CUI [1,1]
C0389918
UMLS CUI [1,2]
C0003320
UMLS CUI [1,3]
C0441889
IU/dL
Antithrombin III antigen level in milligrams per deciliter
Beschreibung

ATIII (mg/dL)

Datentyp

float

Maßeinheiten
  • mg/dL
Alias
UMLS CUI [1,1]
C0427600
mg/dL
Gamma prime fibrinogen antigen level in International Units per deciliter
Beschreibung

Gamma Fibrinogen (IU/dL)

Datentyp

float

Maßeinheiten
  • IU/dL
Alias
UMLS CUI [1,1]
C3203353
UMLS CUI [1,2]
C0017032
IU/dL
Protein C antigen level in International Units per deciliter
Beschreibung

Protein C (IU/dL)

Datentyp

float

Maßeinheiten
  • IU/dL
Alias
UMLS CUI [1,1]
C0581147
IU/dL
Protein S antigen level in International Units per deciliter
Beschreibung

Protein S (IU/dL)

Datentyp

float

Maßeinheiten
  • IU/dL
Alias
UMLS CUI [1,1]
C2142741
IU/dL
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Ähnliche Modelle

This subject phenotype data table includes variables of sociodemography (n=6 variables; age, sex, ancestry), bleeding history such as types of bleeding (n=6 variables) and bleeding related to surgery (n=7 variables), menstrual cycle and birth control use for female participants (n=4 variables), normal physically observable human traits (n=34 variables), blood measurements (n=20 variables), cigarette use (n=1 variable), and immunization/medications (n=2 variables).

6 Formulare
Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
pht001907
Family Id
Item
De-identified sibship ID number
text
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
Geneva Id
Item
De-identified Geneva consortium subject ID number
text
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
Age
Item
Participant age at enrollment
text
C0001779 (UMLS CUI [1,1])
C0011008 (UMLS CUI [1,2])
C1516879 (UMLS CUI [1,3])
Sex
Item
Participant gender
text
C0079399 (UMLS CUI [1,1])
Weight
Item
Participant weight at time of registration
text
C0005910 (UMLS CUI [1,1])
C0011008 (UMLS CUI [1,2])
C1514821 (UMLS CUI [1,3])
Height
Item
Participant height at time of registration
text
C0005890 (UMLS CUI [1,1])
C0011008 (UMLS CUI [1,2])
C1514821 (UMLS CUI [1,3])
Ancestry Type
Item
Self reported ethnicity
text
C0015031 (UMLS CUI [1,1])
C2700446 (UMLS CUI [1,2])
Ancestry-2
Item
Self reported ethnicity if more than one
text
C2700446 (UMLS CUI [1,1])
C0015031 (UMLS CUI [1,2])
Ancestry Description
Item
Self reported description of ethnicity
string
C2700446 (UMLS CUI [1,1])
C0678257 (UMLS CUI [1,2])
C0015031 (UMLS CUI [1,3])
Ancestry Description 2
Item
Self report description of ethnicity if more than two
text
C2700446 (UMLS CUI [1,1])
C0678257 (UMLS CUI [1,2])
C0015031 (UMLS CUI [1,3])
Consent Time
Item
Elapsed time between online informed consent document page loading and clicking "Agree" button
text
C2826303 (UMLS CUI [1,1])
C0021430 (UMLS CUI [1,2])
C4684811 (UMLS CUI [1,3])
C3641827 (UMLS CUI [1,4])
Cigarette smoke
Item
Do you currently smoke cigarettes?
text
C1519386 (UMLS CUI [1,1])
C0521116 (UMLS CUI [1,2])
Immunization
Item
Have you been immunized (received a vaccine shot) in the last month?
text
C2368628 (UMLS CUI [1,1])
C4331910 (UMLS CUI [1,2])
Medications
Item
Please check all the medications listed below that you have used more than twice in the past month.
text
C0240320 (UMLS CUI [1,1])
C4331910 (UMLS CUI [1,2])
Lifetime nosebleed
Item
How many spontaneous (that seem to happen for no reason) nosebleeds would you estimate you have had in your entire life?
text
C0205359 (UMLS CUI [1,1])
C0014591 (UMLS CUI [1,2])
C1265611 (UMLS CUI [1,3])
C4071830 (UMLS CUI [1,4])
Comparative bleeding
Item
Compared to other people, when you get a minor cut or nose bleed, do you think that you bleed less, about the same, or more? Please consider the amount of bleeding and the length of time you bleed.
text
C1458140 (UMLS CUI [1,1])
C0205217 (UMLS CUI [1,2])
C1458140 (UMLS CUI [2,1])
C0205216 (UMLS CUI [2,2])
C1458140 (UMLS CUI [3,1])
C0445247 (UMLS CUI [3,2])
Spontaneous Bruising
Item
How often do you bruise without trauma or injury? In other words, how often do you get bruises that seem to happen for no reason?
text
C0423798 (UMLS CUI [1,1])
Gum Bleeding
Item
When you brush your teeth how often do you notice bleeding from your gums?
text
C4314322 (UMLS CUI [1,1])
Tooth extraction
Item
Have you ever had a tooth extracted (pulled out) or any other dental surgery?
text
C0040440 (UMLS CUI [1,1])
C0204324 (UMLS CUI [1,2])
Bleeding with Tooth extraction
Item
When you had your tooth pulled (or had other dental surgery), did you have a problem with too much bleeding?
text
C0204324 (UMLS CUI [1,1])
C0009566 (UMLS CUI [1,2])
C0019080 (UMLS CUI [1,3])
Bleeding treatment with Tooth extraction
Item
When you had your tooth pulled (or had other dental surgery), did your doctor or you have to do something to stop the bleeding?
text
C0204324 (UMLS CUI [1,1])
C3819139 (UMLS CUI [1,2])
C2746065 (UMLS CUI [1,3])
C0019080 (UMLS CUI [1,4])
Surgery
Item
Have you ever had surgery or any other operation not including dental surgery?
text
C0543467 (UMLS CUI [1,1])
C1444637 (UMLS CUI [1,2])
Bleeding with Surgery
Item
Have you ever had problems with bleeding following any surgery?
text
C0009566 (UMLS CUI [1,1])
C0019080 (UMLS CUI [1,2])
C0543467 (UMLS CUI [1,3])
Bleeding treatment with surgery
Item
Has your doctor or you ever had to do something to stop bleeding after surgery?
text
C0543467 (UMLS CUI [1,1])
C3819139 (UMLS CUI [1,2])
C2746065 (UMLS CUI [1,3])
C0019080 (UMLS CUI [1,4])
Bleeding treatment, non-surgical
Item
Have you ever had medical treatment to stop bleeding that was not associated with surgery? This includes incidents when you may have injured yourself, received vaccinations or injections, or had any part of your body pierced.
text
C0087111 (UMLS CUI [1,1])
C2746065 (UMLS CUI [1,2])
C0019080 (UMLS CUI [1,3])
C3263723 (UMLS CUI [1,4])
C0042196 (UMLS CUI [1,5])
C0848128 (UMLS CUI [1,6])
Comparative dental bleeding
Item
When you go to the dentist, about how much do you bleed from your gums? Would you say it is more, about the same, or less than most people your age?
text
C0545082 (UMLS CUI [1,1])
C0011441 (UMLS CUI [1,2])
C0017565 (UMLS CUI [1,3])
C1458140 (UMLS CUI [1,4])
C0205217 (UMLS CUI [1,5])
C0545082 (UMLS CUI [2,1])
C0011441 (UMLS CUI [2,2])
C0017565 (UMLS CUI [2,3])
C1458140 (UMLS CUI [2,4])
C0205216 (UMLS CUI [2,5])
C0545082 (UMLS CUI [3,1])
C0011441 (UMLS CUI [3,2])
C0017565 (UMLS CUI [3,3])
C1458140 (UMLS CUI [3,4])
C0445247 (UMLS CUI [3,5])
Menarche
Item
At what age did you have your first period?
text
C3173157 (UMLS CUI [1,1])
Menstrual duration
Item
On average, how many days do your periods last?
text
C1510992 (UMLS CUI [1,1])
C0425943 (UMLS CUI [1,2])
Menstrual heaviness
Item
How frequently do you change pads/tampons on the heaviest days of your periods?
text
C4319952 (UMLS CUI [1,1])
C0182158 (UMLS CUI [1,2])
C0039288 (UMLS CUI [1,3])
C4478300 (UMLS CUI [1,4])
Hormonal birth control
Item
Do you use hormonal birth control (pill, patch, ring, or shot)?
text
C2985296 (UMLS CUI [1,1])
Skin tags
Item
Skin tags are small, normal extra pieces of skin most commonly found on the neck or under arm. How many skin tags do you have?
text
C1265611 (UMLS CUI [1,1])
C0037293 (UMLS CUI [1,2])
Acne
Item
Many people have some acne during their teenage years. Which picture best describes your acne as a teenager?
text
C0702166 (UMLS CUI [1,1])
C0001578 (UMLS CUI [1,2])
Eye color
Item
Which picture best describes your natural eye color?
text
C0205296 (UMLS CUI [1,1])
C0015392 (UMLS CUI [1,2])
C0031911 (UMLS CUI [1,3])
Hair color
Item
Which picture best describes your natural hair color (prior to graying)?
text
C0205296 (UMLS CUI [1,1])
C0018498 (UMLS CUI [1,2])
Hair line
Item
Which picture best describes your current hair line?
text
C3846158 (UMLS CUI [1,1])
Skin sensitivity to sun
Item
What would happen to your skin if it were exposed to bright sunlight for the first time in summer for one hour at noon without protection? Would your skin become:
text
C0392747 (UMLS CUI [1,1])
C1123023 (UMLS CUI [1,2])
C1456711 (UMLS CUI [1,3])
C0332288 (UMLS CUI [1,4])
C1545588 (UMLS CUI [1,5])
Tanning
Item
What would happen to your skin if it was repeatedly exposed to bright sunlight without protection? Would your skin become:
text
C0392747 (UMLS CUI [1,1])
C1123023 (UMLS CUI [1,2])
C0205341 (UMLS CUI [1,3])
C1456711 (UMLS CUI [1,4])
C0332288 (UMLS CUI [1,5])
C1545588 (UMLS CUI [1,6])
Skin color
Item
Which best describes the color of the skin on the inside of your upper arm? In other words, what is your natural skin color without any tanning?
text
C0205296 (UMLS CUI [1,1])
C0599910 (UMLS CUI [1,2])
C0332288 (UMLS CUI [1,3])
C0302595 (UMLS CUI [1,4])
Freckles
Item
Which picture best describes the amount of freckles you have?
text
C0016689 (UMLS CUI [1,1])
C1265611 (UMLS CUI [1,2])
Ear lobe creased
Item
Are your ear lobes creased?
text
C0229315 (UMLS CUI [1,1])
C0459397 (UMLS CUI [1,2])
Ear lobe attachment
Item
Which word best describes your ear lobes -- free or attached?
text
C0229315 (UMLS CUI [1,1])
Tongue roll
Item
Can you roll your tongue?
text
C0233596 (UMLS CUI [1,1])
C0332149 (UMLS CUI [1,2])
Dimples
Item
Do you have dimples on your face?
text
C0332471 (UMLS CUI [1,1])
Dyslexia
Item
Do you have dyslexia (difficulty with reading)?
text
C0476254 (UMLS CUI [1,1])
Dental caries
Item
How many dental cavities have you ever had?
text
C0011334 (UMLS CUI [1,1])
C0011403 (UMLS CUI [1,2])
C1265611 (UMLS CUI [1,3])
Migraines
Item
Have you been diagnosed with migraines by a physician?
text
C0011900 (UMLS CUI [1,1])
C0149931 (UMLS CUI [1,2])
Stuttering speech
Item
Have you ever been treated for stuttering by a speech therapist?
text
C0037831 (UMLS CUI [1,1])
C0038506 (UMLS CUI [1,2])
Seasonal allergies
Item
Do you have itchy eyes, runny or stuffy nose, or sneezing in the fall or spring?
text
C0022281 (UMLS CUI [1,1])
C1260880 (UMLS CUI [1,2])
C0027424 (UMLS CUI [1,3])
C0037383 (UMLS CUI [1,4])
C0238715 (UMLS CUI [1,5])
C0241232 (UMLS CUI [1,6])
Vision correction
Item
Do you wear prescription eye glasses or contact lenses?
text
C0947594 (UMLS CUI [1,1])
C0562955 (UMLS CUI [1,2])
Shoe Size
Item
What is your US shoe size?
float
C0426931 (UMLS CUI [1,1])
Flat feet
Item
Do you have flat feet?
text
C0016202 (UMLS CUI [1,1])
Favorite color
Item
Of the following colors, which is your favorite color?
text
C4531555 (UMLS CUI [1,1])
Eating Sweets
Item
How much do you like to eat sweets?
text
C0556238 (UMLS CUI [1,1])
Eating salty food
Item
How much do you like to eat salty foods?
text
C0453862 (UMLS CUI [1,1])
Athletic ability
Item
How would you describe your athletic ability?
text
C0237919 (UMLS CUI [1,1])
Handedness
Item
With which hand do you write best?
text
C3166759 (UMLS CUI [1,1])
C0584992 (UMLS CUI [1,2])
Photic sneeze
Item
Do you often feel like sneezing or sneeze upon walking out into bright sunlight?
text
C0037383 (UMLS CUI [1,1])
C0038817 (UMLS CUI [1,2])
Brain freeze
Item
Do you experience a brief intense headache if you drink an icy beverage or eat ice cream too fast? AKA "brain freeze"
text
C3160911 (UMLS CUI [1,1])
Vulcan greeting
Item
Can you easily separate your fingers as shown in this picture?
text
C0016129 (UMLS CUI [1,1])
Interlocking fingers
Item
Interlock your fingers as shown in the picture. Which position feels comfortable to you?
text
C0016129 (UMLS CUI [1,1])
C1822395 (UMLS CUI [1,2])
5th digit clinodactyly
Item
Does the tip of your little finger (5th digit) bend toward your other fingers?
text
C0560887 (UMLS CUI [1,1])
C0230403 (UMLS CUI [1,2])
Nosebleeds per year
Item
How many spontaneous (that seem to happen for no reason) nosebleeds would you estimate you have per year?
text
C0205359 (UMLS CUI [1,1])
C0014591 (UMLS CUI [1,2])
C1265611 (UMLS CUI [1,3])
C0439508 (UMLS CUI [1,4])
Aphthous ulcers
Item
How often do you get aphthous ulcers (canker sores)?
text
C3898838 (UMLS CUI [1,1])
C0038363 (UMLS CUI [1,2])
RBC (x10E06cells/microliter)
Item
Red blood cell count per microliter of whole blood
float
C0014772 (UMLS CUI [1,1])
HCT (%)
Item
Hematocrit, percent of blood that is contained in the red blood cell pellet
float
C0518014 (UMLS CUI [1,1])
MCV (fL)
Item
Mean corpuscular volume in femtoliters
float
C1948043 (UMLS CUI [1,1])
MCH (pg)
Item
Mean corpuscular hemoglobin in picograms
float
C0474535 (UMLS CUI [1,1])
MCHC (g/dL)
Item
Mean corpuscular hemoglobin concentration in grams per deciliter
float
C0474535 (UMLS CUI [1,1])
RDW (%)
Item
Red blood cell width distribution, variance in percentage
float
C0427460 (UMLS CUI [1,1])
WBC (x10E03cells/microliter)
Item
White blood cell count per microliter of whole blood
float
C0023508 (UMLS CUI [1,1])
HGB (g/dL)
Item
Hemoglobin concentration in grams per deciliter of whole blood
float
C0019046 (UMLS CUI [1,1])
PLT (x10E03cells/microliter)
Item
Platelet cell count per microliter of whole blood
float
C0032181 (UMLS CUI [2,1])
MPV (fL)
Item
Mean Platelet Volume
float
C0200665 (UMLS CUI [1,1])
VWF(%)
Item
Von Willebrand Factor antigen level, percentage compared to laboratory standard
float
C1318684 (UMLS CUI [1,1])
VWF Std Dev
Item
Standard deviation of von Willebrand Factor antigen level
float
C1318684 (UMLS CUI [1,1])
C0871420 (UMLS CUI [1,2])
VWF V2 (%)
Item
Von Willebrand Factor antigen level, percentage compared to pooled laboratory standard. Updated assay compared to VWF(%).
float
C1318684 (UMLS CUI [1,1])
VWFpp2 (IU/dL)
Item
Von Willebrand Factor propeptide antigen level in International Units per deciliter. AlphaLISA using mAb 242.2 and 242.6
float
C5542104 (UMLS CUI [1,1])
PLG (IU/dL)
Item
Plasminogen antigen level in International Units per deciliter
float
C1318608 (UMLS CUI [1,1])
ADAMTS13 IU/dL)
Item
ADAMTS13 antigen level in International Units per deciliter
float
C0389918 (UMLS CUI [1,1])
C0003320 (UMLS CUI [1,2])
C0441889 (UMLS CUI [1,3])
ATIII (mg/dL)
Item
Antithrombin III antigen level in milligrams per deciliter
float
C0427600 (UMLS CUI [1,1])
Gamma Fibrinogen (IU/dL)
Item
Gamma prime fibrinogen antigen level in International Units per deciliter
float
C3203353 (UMLS CUI [1,1])
C0017032 (UMLS CUI [1,2])
Protein C (IU/dL)
Item
Protein C antigen level in International Units per deciliter
float
C0581147 (UMLS CUI [1,1])
Protein S (IU/dL)
Item
Protein S antigen level in International Units per deciliter
float
C2142741 (UMLS CUI [1,1])
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