ID

45141

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=phs000398 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 phs000398 contains the Atherosclerosis Risk in Communities (ARIC) subset of GO-ESP/Heart-GO. Additional GO-ESP data is also available via dbGaP.

Link

dbGaP study=phs000398

Keywords

Versions (2)
  1. 10/2/22 10/2/22 - Chiara Middel
  2. 10/12/22 10/12/22 - Adrian Schulz
Copyright Holder

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

Uploaded on

October 12, 2022

DOI

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License

Creative Commons BY 4.0
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dbGaP phs000398 NHLBI GO-ESP: Heart Cohorts Exome Sequencing Project (ARIC)

English

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 (ARIC)" project.

4 forms  
  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 (ARIC)" 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 (ARIC)" 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, Wolf-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 (ARIC)" project.
pht002466
Description

pht002466

Unique participant ID
Description

SUBJID

Data type

string

Alias
UMLS CUI [1,1]
C2348585
ID for exome data
Description

SAMPID

Data type

string

Alias
UMLS CUI [1,1]
C2348585
Sample use [SNP_Sequence=SNP genotypes derived from sequence data; WES_SRA=Whole exome sequencing data available through SRA. SNP_Sequence: SNP genotypes derived from sequence data; WES_SRA: Whole exome sequencing data available through SRA
Description

SAMPLE_USE

Data type

text

Alias
UMLS CUI [1,1]
C1524063
UMLS CUI [1,2]
C2347026
UMLS CUI [1,3]
C0752046
UMLS CUI [1,4]
C0017431
UMLS CUI [1,5]
C3640077
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Similar models

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 (ARIC)" project.

4 forms
  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 (ARIC)" 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 (ARIC)" 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, Wolf-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 (ARIC)" project.
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht002466
SUBJID
Item
Unique participant ID
string
C2348585 (UMLS CUI [1,1])
SAMPID
Item
ID for exome data
string
C2348585 (UMLS CUI [1,1])
Item
Sample use [SNP_Sequence=SNP genotypes derived from sequence data; WES_SRA=Whole exome sequencing data available through SRA. SNP_Sequence: SNP genotypes derived from sequence data; WES_SRA: Whole exome sequencing data available through SRA
text
C1524063 (UMLS CUI [1,1])
C2347026 (UMLS CUI [1,2])
C0752046 (UMLS CUI [1,3])
C0017431 (UMLS CUI [1,4])
C3640077 (UMLS CUI [1,5])
SAMPLE_USE
Code List
Sample use [SNP_Sequence=SNP genotypes derived from sequence data; WES_SRA=Whole exome sequencing data available through SRA. SNP_Sequence: SNP genotypes derived from sequence data; WES_SRA: Whole exome sequencing data available through SRA
CL Item
Both SNP genotypes and whole exome sequence data are available (SNP_Sequence/WES_SRA)
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