ID

45284

Description

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=phs000400 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 phs000400 contains the Cardiovascular Health Study (CHS) subset of GO-ESP/Heart-GO. Additional GO-ESP data is also available via dbGaP.

Link

dbGaP study = phs000400

Keywords

Versions (1)
  1. 10/13/22 10/13/22 - Dr. Christian Niklas
Copyright Holder

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

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October 13, 2022

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Creative Commons BY 4.0
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dbGaP phs000400 NHLBI GO-ESP: Heart Cohorts Exome Sequencing Project (CHS)

English

Eligibility Criteria

4 forms  
Inclusion and exclusion criteria
Description

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.
Description

Elig.phs000400.v1.p1.1

Data type

boolean

Alias
UMLS CUI [1,1]
C3846158
*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.
Description

Elig.phs000400.v1.p1.2

Data type

boolean

Alias
UMLS CUI [1,1]
C3846158
*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.
Description

Elig.phs000400.v1.p1.3

Data type

boolean

Alias
UMLS CUI [1,1]
C3846158
*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.
Description

Elig.phs000400.v1.p1.4

Data type

boolean

Alias
UMLS CUI [1,1]
C3846158
*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.
Description

Elig.phs000400.v1.p1.5

Data type

boolean

Alias
UMLS CUI [1,1]
C3846158
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Similar models

Eligibility Criteria

4 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elig.phs000400.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
C3846158 (UMLS CUI [1,1])
Elig.phs000400.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
C3846158 (UMLS CUI [1,1])
Elig.phs000400.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
C3846158 (UMLS CUI [1,1])
Elig.phs000400.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
C3846158 (UMLS CUI [1,1])
Elig.phs000400.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
C3846158 (UMLS CUI [1,1])
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