ID

45012

Descrizione

Principal Investigator: Stephen Rich, PhD, University of Virginia, Charlottesville, VA, USA MeSH: Myocardial Infarction,Brain Ischemia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000401 The NHLBI "Grand Opportunity" Exome Sequencing Project (GO-ESP), a signature project of the NHLBI Recovery Act investment, was designed to identify genetic variants in coding regions (exons) of the human genome (the "exome") that are associated with heart, lung and blood diseases. These and related diseases that are of high impact to public health and individuals from diverse racial and ethnic groups will be studied. These data may help researchers understand the causes of disease, contributing to better ways to prevent, diagnose, and treat diseases, as well as determine whether to tailor prevention and treatments to specific populations. This could lead to more effective treatments and reduce the likelihood of side effects. GO-ESP is comprised of five collaborative components: 3 cohort consortia - HeartGO, LungGO, and WHISP - and 2 sequencing centers - BroadGO and SeattleGO. HeartGO is a consortium of six well-phenotyped NHLBI cohorts: Atherosclerosis Risk in Communities (ARIC) study, the Coronary Artery Risk Development in Young Adults (CARDIA) study, the Cardiovascular Health Study, the Framingham Heart Study, the Jackson Heart Study, and the Multi-Ethnic Study of Atherosclerosis. Together, these cohorts have provided DNA and phenotype datasets from a diverse cohort of individuals of African-American, Caucasian, Asian, and Hispanic ancestry to be made available for use by qualified investigators in dbGaP. HeartGO investigators will conduct genotype-phenotype analyses for phenotypes related not only to heart disease but with other variables that will be contributed to dbGaP. The HeartGO dataset provides investigators with genotype-phenotype analytic opportunities for traits not only related to heart disease but also associated with ancillary variables that will be contributed to dbGaP, including disease endpoints, risk factors, biomarkers, and subclinical disease measures. The phenotypes planned for investigation as part of the GO-ESP HeartGO project include early-onset myocardial infarction (EOMI), low density lipoprotein (LDL) cholesterol, body mass index/type 2 diabetes (BMI/T2D), blood pressure and ischemic stroke. Results of the proposed analyses as well as relevant replication/follow-up analyses will be reported in peer-reviewed journals. This study phs000401 contains the Framingham Heart Study (FHS) subset of GO-ESP/Heart-GO. Additional GO-ESP data is also available via dbGaP.

collegamento

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000401

Keywords

versioni (2)
  1. 2022-07-11 2022-07-11 - Chiara Middel
  2. 2022-10-12 2022-10-12 - Adrian Schulz
Titolare del copyright

Stephen Rich, PhD, University of Virginia, Charlottesville, VA, USA

Caricato su

11 juli 2022

DOI

Per favore, per richiedere un accesso.

Licenza

Creative Commons BY 4.0
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dbGaP phs000401 NHLBI GO-ESP: Heart Cohorts Exome Sequencing Project (FHS)

Inglese

Eligibility Criteria

4 moduli  
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. Subject ID, subject source, subject source ID, and consent group of participants involved in the "National Heart Lung and Blood Institute (NHLBI) GO-ESP: Heart Cohorts Component of the Exome Sequencing Project (FHS)" project.
    3. Sample ID, subject ID, and using of samples obtained from participants involved in the "National Heart Lung and Blood Institute (NHLBI) GO-ESP: Heart Cohorts Component of the Exome Sequencing Project (FHS)" project.
    4. Sociodemographic data including subject ID, sex, race, study site, study cohort, and age, family history of stroke, systolic and diastolic blood pressure, anthropometric data including BMI, body weight, body height, and waist in centimeters, laboratory measurement of blood including eosinophils, basophils, platelet count, red blood count, neutrophils, monocytes, lymphocytes, hematocrit, hemoglobin, Factor VIII, fasting glucose, fasting insulin, ICAM1 level, IL6 level, cystatin C, Digoxin, total cholesterol, triglycerides, HDL, LDL, C-reactive protein, Factor VII level, and Fibrinogen, uric acid, urinary albumin, and urinary creatinine, EKG including HR, PR, QRS, QT, and RR interval measurement, status of myocardial infraction, angioplasty, atrial fibrillation, atrioventricular block, hypertension, left ventricular hypertrophy, gout, and type 2 diabetes, coronary artery calcium Agatston and Framingham Risk Score, intimal-medial thickness, Wolff-Parkinson-White syndrome, treatment with medications, and smoking status of participants involved in the "National Heart Lung and Blood Institute (NHLBI) GO-ESP: Heart Cohorts Component of the Exome Sequencing Project (FHS)" project.
Inclusion and exclusion criteria
Descrizione

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
The following are the inclusion/exclusion criteria across the HeartGO consortia phenotype groups; each HeartGO cohort was represented in one or more of these phenotype groups.
Descrizione

Elig.phs000401.v1.p1.1

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C1512693
*Early-Onset MI (EOMI):* Within each of two ethnic groups (whites and blacks), selection of 200 cases with early-onset myocardial infarction (MI) and 200 participants with absence of MI despite extreme Framingham Risk Score (FRS). *Inclusion* of individuals with consent and DNA available; for cases, the participant data includes study adjudication of reported MI and onset prior to age 45y (men) or 55y (women); for comparison (non-MI) participants, there must be data to calculate the Framingham Risk Score (FRS; age, sex, total cholesterol, HDL cholesterol, smoking status, systolic blood pressure, blood pressure medications), with age greater than 50y (men) or 60y (women). *Exclusion* of participants with prevalent or incident CVD; cases with self-reported MI but without adjudication of clinical data.
Descrizione

Elig.phs000401.v1.p1.2

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C4014367
UMLS CUI [2,1]
C0015031
UMLS CUI [2,2]
C0085756
UMLS CUI [2,3]
C0043157
UMLS CUI [3,1]
C4014367
UMLS CUI [4,1]
C0332197
UMLS CUI [4,2]
C4014367
UMLS CUI [4,3]
C5442395
UMLS CUI [5,1]
C1512693
UMLS CUI [5,2]
C1698493
UMLS CUI [5,3]
C0021430
UMLS CUI [5,4]
C0012854
UMLS CUI [5,5]
C0027051
UMLS CUI [5,6]
C0206132
UMLS CUI [6,1]
C1512693
UMLS CUI [6,2]
C0009932
UMLS CUI [6,3]
C5442395
UMLS CUI [6,4]
C0001779
UMLS CUI [6,5]
C0079399
UMLS CUI [6,6]
C0543421
UMLS CUI [6,7]
C0023822
UMLS CUI [6,8]
C1519386
UMLS CUI [6,9]
C0871470
UMLS CUI [6,10]
C2926598
UMLS CUI [7,1]
C0680251
UMLS CUI [7,2]
C0007222
UMLS CUI [7,3]
C2700446
UMLS CUI [7,4]
C0027051
*LDL Cholesterol (LDL):* Within each of two ethnic groups (whites and blacks), selection of 100 participants with extremely low LDL and 100 participants with extremely high LDL, after adjustment for age, sex, lipid medication status. *Inclusion* requires consent and available DNA, and presence of the following variables: race, sex, LDL measurement (baseline and any additional), age at LDL measurement, lipid-lowering medication status. *Exclusion*: not being sequenced for other phenotypes.
Descrizione

Elig.phs000401.v1.p1.3

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0023824
UMLS CUI [1,2]
C0205250
UMLS CUI [1,3]
C0205251
UMLS CUI [1,4]
C0001779
UMLS CUI [1,5]
C0079399
UMLS CUI [1,6]
C0585943
UMLS CUI [2,1]
C1512693
UMLS CUI [2,2]
C0021430
UMLS CUI [2,3]
C0012854
UMLS CUI [2,4]
C0034510
UMLS CUI [2,5]
C0079399
UMLS CUI [2,6]
C0428474
UMLS CUI [2,7]
C0585943
UMLS CUI [3,1]
C0680251
UMLS CUI [3,2]
C1298908
UMLS CUI [3,3]
C1561491
*Blood Pressure (BP):* Within each of two ethnic groups (whites and blacks), selection of 200 participants with extremely low residual systolic and diastolic blood pressure and 200 participants with extremely high residual systolic and diastolic blood pressure, after adjustment for age, sex, medication status and BMI. *Inclusion* requires consent and available DNA, and presence of the following variables: race, sex, systolic blood pressure (SBP), diastolic blood pressure (DBP), age, hypertension medication status and BMI. *Exclusion* of participants (or data) with age > 69 yr, prevalent MI, heart failure or BMI > 4SD at any exam but only for that exam (for those participants with multiple measurements); for selection of extreme low BP individuals, exclude those individuals who are on antihypertensive treatment or who are unknown to be on antihypertensive treatment.
Descrizione

Elig.phs000401.v1.p1.4

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0005823
UMLS CUI [1,2]
C0020649
UMLS CUI [1,3]
C3843080
UMLS CUI [1,4]
C0001779
UMLS CUI [1,5]
C0079399
UMLS CUI [1,6]
C5447395
UMLS CUI [1,7]
C1305855
UMLS CUI [2,1]
C1512693
UMLS CUI [2,2]
C0021430
UMLS CUI [2,3]
C0012854
UMLS CUI [2,4]
C0034510
UMLS CUI [2,5]
C0079399
UMLS CUI [2,6]
C0871470
UMLS CUI [2,7]
C0428883
UMLS CUI [2,8]
C0001779
UMLS CUI [2,9]
C0684167
UMLS CUI [2,10]
C1305855
UMLS CUI [3,1]
C0680251
UMLS CUI [3,2]
C0027051
UMLS CUI [3,3]
C0018801
UMLS CUI [3,4]
C1305855
UMLS CUI [4,1]
C0680251
UMLS CUI [4,2]
C0020649
UMLS CUI [4,3]
C0684167
*Ischemic Stroke (STROKE):* Within each of two ethnic groups (whites and blacks), selection of 250 participants with early onset (less than 65y) or positive family history of ischemic stroke. These cases will be compared with the deeply phenotyped reference sample. *Inclusion* requires consent and available DNA, and available documentation that the stroke is ischemic and has been adjudicated with characteristics of likely etiology (subtyping). Required variables include race, sex, family history of stroke, and age at stroke. Only participants with a positive family history of stroke and/or diagnosed prior to 65 y will be included. Stroke subtypes included for study include small vessel occlusion/lacunar and large artery atherosclerosis/atherosclerotic (more specifically, non-lacunar and non-cardioembolic). *Exclusion* of participants includes those with absence of subtyping (based on TOAST, SHEP or equivalent criteria). Participants will be excluded if unknown or undefined stroke subtype; cardioembolic stroke subtype is also excluded.
Descrizione

Elig.phs000401.v1.p1.5

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0948008
UMLS CUI [1,2]
C0814120
UMLS CUI [1,3]
C1446409
UMLS CUI [1,4]
C0241889
UMLS CUI [2,1]
C0680399
UMLS CUI [2,2]
C0031437
UMLS CUI [3,1]
C1512693
UMLS CUI [3,2]
C0021430
UMLS CUI [3,3]
C0012854
UMLS CUI [3,4]
C0948008
UMLS CUI [3,5]
C1314792
UMLS CUI [3,6]
C0034510
UMLS CUI [3,7]
C0079399
UMLS CUI [3,8]
C0241889
UMLS CUI [3,9]
C0206132
UMLS CUI [4,1]
C1512693
UMLS CUI [4,2]
C0038454
UMLS CUI [4,3]
C0449560
UMLS CUI [4,4]
C2733158
UMLS CUI [4,5]
C0333559
UMLS CUI [4,6]
C0333482
UMLS CUI [5,1]
C0680251
UMLS CUI [5,2]
C0332197
UMLS CUI [5,3]
C0449560
UMLS CUI [5,4]
C1531624
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Similar models

Eligibility Criteria

4 moduli
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. Subject ID, subject source, subject source ID, and consent group of participants involved in the "National Heart Lung and Blood Institute (NHLBI) GO-ESP: Heart Cohorts Component of the Exome Sequencing Project (FHS)" project.
    3. Sample ID, subject ID, and using of samples obtained from participants involved in the "National Heart Lung and Blood Institute (NHLBI) GO-ESP: Heart Cohorts Component of the Exome Sequencing Project (FHS)" project.
    4. Sociodemographic data including subject ID, sex, race, study site, study cohort, and age, family history of stroke, systolic and diastolic blood pressure, anthropometric data including BMI, body weight, body height, and waist in centimeters, laboratory measurement of blood including eosinophils, basophils, platelet count, red blood count, neutrophils, monocytes, lymphocytes, hematocrit, hemoglobin, Factor VIII, fasting glucose, fasting insulin, ICAM1 level, IL6 level, cystatin C, Digoxin, total cholesterol, triglycerides, HDL, LDL, C-reactive protein, Factor VII level, and Fibrinogen, uric acid, urinary albumin, and urinary creatinine, EKG including HR, PR, QRS, QT, and RR interval measurement, status of myocardial infraction, angioplasty, atrial fibrillation, atrioventricular block, hypertension, left ventricular hypertrophy, gout, and type 2 diabetes, coronary artery calcium Agatston and Framingham Risk Score, intimal-medial thickness, Wolff-Parkinson-White syndrome, treatment with medications, and smoking status of participants involved in the "National Heart Lung and Blood Institute (NHLBI) GO-ESP: Heart Cohorts Component of the Exome Sequencing Project (FHS)" project.
Name
genere
Description | Question | Decode (Coded Value)
Tipo di dati
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elig.phs000401.v1.p1.1
Item
The following are the inclusion/exclusion criteria across the HeartGO consortia phenotype groups; each HeartGO cohort was represented in one or more of these phenotype groups.
boolean
C0680251 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
Elig.phs000401.v1.p1.2
Item
*Early-Onset MI (EOMI):* Within each of two ethnic groups (whites and blacks), selection of 200 cases with early-onset myocardial infarction (MI) and 200 participants with absence of MI despite extreme Framingham Risk Score (FRS). *Inclusion* of individuals with consent and DNA available; for cases, the participant data includes study adjudication of reported MI and onset prior to age 45y (men) or 55y (women); for comparison (non-MI) participants, there must be data to calculate the Framingham Risk Score (FRS; age, sex, total cholesterol, HDL cholesterol, smoking status, systolic blood pressure, blood pressure medications), with age greater than 50y (men) or 60y (women). *Exclusion* of participants with prevalent or incident CVD; cases with self-reported MI but without adjudication of clinical data.
boolean
C4014367 (UMLS CUI [1,1])
C0015031 (UMLS CUI [2,1])
C0085756 (UMLS CUI [2,2])
C0043157 (UMLS CUI [2,3])
C4014367 (UMLS CUI [3,1])
C0332197 (UMLS CUI [4,1])
C4014367 (UMLS CUI [4,2])
C5442395 (UMLS CUI [4,3])
C1512693 (UMLS CUI [5,1])
C1698493 (UMLS CUI [5,2])
C0021430 (UMLS CUI [5,3])
C0012854 (UMLS CUI [5,4])
C0027051 (UMLS CUI [5,5])
C0206132 (UMLS CUI [5,6])
C1512693 (UMLS CUI [6,1])
C0009932 (UMLS CUI [6,2])
C5442395 (UMLS CUI [6,3])
C0001779 (UMLS CUI [6,4])
C0079399 (UMLS CUI [6,5])
C0543421 (UMLS CUI [6,6])
C0023822 (UMLS CUI [6,7])
C1519386 (UMLS CUI [6,8])
C0871470 (UMLS CUI [6,9])
C2926598 (UMLS CUI [6,10])
C0680251 (UMLS CUI [7,1])
C0007222 (UMLS CUI [7,2])
C2700446 (UMLS CUI [7,3])
C0027051 (UMLS CUI [7,4])
Elig.phs000401.v1.p1.3
Item
*LDL Cholesterol (LDL):* Within each of two ethnic groups (whites and blacks), selection of 100 participants with extremely low LDL and 100 participants with extremely high LDL, after adjustment for age, sex, lipid medication status. *Inclusion* requires consent and available DNA, and presence of the following variables: race, sex, LDL measurement (baseline and any additional), age at LDL measurement, lipid-lowering medication status. *Exclusion*: not being sequenced for other phenotypes.
boolean
C0023824 (UMLS CUI [1,1])
C0205250 (UMLS CUI [1,2])
C0205251 (UMLS CUI [1,3])
C0001779 (UMLS CUI [1,4])
C0079399 (UMLS CUI [1,5])
C0585943 (UMLS CUI [1,6])
C1512693 (UMLS CUI [2,1])
C0021430 (UMLS CUI [2,2])
C0012854 (UMLS CUI [2,3])
C0034510 (UMLS CUI [2,4])
C0079399 (UMLS CUI [2,5])
C0428474 (UMLS CUI [2,6])
C0585943 (UMLS CUI [2,7])
C0680251 (UMLS CUI [3,1])
C1298908 (UMLS CUI [3,2])
C1561491 (UMLS CUI [3,3])
Elig.phs000401.v1.p1.4
Item
*Blood Pressure (BP):* Within each of two ethnic groups (whites and blacks), selection of 200 participants with extremely low residual systolic and diastolic blood pressure and 200 participants with extremely high residual systolic and diastolic blood pressure, after adjustment for age, sex, medication status and BMI. *Inclusion* requires consent and available DNA, and presence of the following variables: race, sex, systolic blood pressure (SBP), diastolic blood pressure (DBP), age, hypertension medication status and BMI. *Exclusion* of participants (or data) with age > 69 yr, prevalent MI, heart failure or BMI > 4SD at any exam but only for that exam (for those participants with multiple measurements); for selection of extreme low BP individuals, exclude those individuals who are on antihypertensive treatment or who are unknown to be on antihypertensive treatment.
boolean
C0005823 (UMLS CUI [1,1])
C0020649 (UMLS CUI [1,2])
C3843080 (UMLS CUI [1,3])
C0001779 (UMLS CUI [1,4])
C0079399 (UMLS CUI [1,5])
C5447395 (UMLS CUI [1,6])
C1305855 (UMLS CUI [1,7])
C1512693 (UMLS CUI [2,1])
C0021430 (UMLS CUI [2,2])
C0012854 (UMLS CUI [2,3])
C0034510 (UMLS CUI [2,4])
C0079399 (UMLS CUI [2,5])
C0871470 (UMLS CUI [2,6])
C0428883 (UMLS CUI [2,7])
C0001779 (UMLS CUI [2,8])
C0684167 (UMLS CUI [2,9])
C1305855 (UMLS CUI [2,10])
C0680251 (UMLS CUI [3,1])
C0027051 (UMLS CUI [3,2])
C0018801 (UMLS CUI [3,3])
C1305855 (UMLS CUI [3,4])
C0680251 (UMLS CUI [4,1])
C0020649 (UMLS CUI [4,2])
C0684167 (UMLS CUI [4,3])
Elig.phs000401.v1.p1.5
Item
*Ischemic Stroke (STROKE):* Within each of two ethnic groups (whites and blacks), selection of 250 participants with early onset (less than 65y) or positive family history of ischemic stroke. These cases will be compared with the deeply phenotyped reference sample. *Inclusion* requires consent and available DNA, and available documentation that the stroke is ischemic and has been adjudicated with characteristics of likely etiology (subtyping). Required variables include race, sex, family history of stroke, and age at stroke. Only participants with a positive family history of stroke and/or diagnosed prior to 65 y will be included. Stroke subtypes included for study include small vessel occlusion/lacunar and large artery atherosclerosis/atherosclerotic (more specifically, non-lacunar and non-cardioembolic). *Exclusion* of participants includes those with absence of subtyping (based on TOAST, SHEP or equivalent criteria). Participants will be excluded if unknown or undefined stroke subtype; cardioembolic stroke subtype is also excluded.
boolean
C0948008 (UMLS CUI [1,1])
C0814120 (UMLS CUI [1,2])
C1446409 (UMLS CUI [1,3])
C0241889 (UMLS CUI [1,4])
C0680399 (UMLS CUI [2,1])
C0031437 (UMLS CUI [2,2])
C1512693 (UMLS CUI [3,1])
C0021430 (UMLS CUI [3,2])
C0012854 (UMLS CUI [3,3])
C0948008 (UMLS CUI [3,4])
C1314792 (UMLS CUI [3,5])
C0034510 (UMLS CUI [3,6])
C0079399 (UMLS CUI [3,7])
C0241889 (UMLS CUI [3,8])
C0206132 (UMLS CUI [3,9])
C1512693 (UMLS CUI [4,1])
C0038454 (UMLS CUI [4,2])
C0449560 (UMLS CUI [4,3])
C2733158 (UMLS CUI [4,4])
C0333559 (UMLS CUI [4,5])
C0333482 (UMLS CUI [4,6])
C0680251 (UMLS CUI [5,1])
C0332197 (UMLS CUI [5,2])
C0449560 (UMLS CUI [5,3])
C1531624 (UMLS CUI [5,4])
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