DOI: 10.60645/bdc-8m5s-7pau
title: National Heart Lung and Blood Institute (NHLBI) GO-ESP: Heart Cohorts Component of the Exome Sequencing Project (JHS)

description: 
This sub-study [phs000402](http://./study.cgi?study_id=phs000402) HeartGO JHS contains genotype derived from sequence data and selected phenotype of subjects available from the [phs000402](http://./study.cgi?study_id=phs000402) study. Summary level phenotypes for the NHLBI JHS Cohort study participants can be viewed at the top-level study page [phs000286](http://./study.cgi?study_id=phs000286) JHS Cohort. Individual level phenotype data and molecular data for all JHS Cohort top-level study and sub-study are available by requesting Authorized Access to the NHLBI JHS Cohort [phs000286](http://./study.cgi?study_id=phs000402) study.

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 that are associated with heart, lung and blood diseases. These diseases 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. The GO-ESP is comprised of five collaborative components, including 3 cohort consortia: HeartGO, LungGO, and WHISP, and 2 sequencing centers: BroadGO and SeattleGO.

The HeartGO is a consortium of six well-phenotyped NHLBI cohorts: [Atherosclerosis Risk in Communities (ARIC) Study](https://www.nhlbi.nih.gov/science/atherosclerosis-risk-communities-aric-study), [Coronary Artery Risk Development in Young Adults Study (CARDIA)](https://www.nhlbi.nih.gov/science/coronary-artery-risk-development-young-adults-study-cardia), [Cardiovascular Health Study (CHS)](https://www.nhlbi.nih.gov/science/cardiovascular-health-study-chs), [Framingham Heart Study (FHS)](https://www.nhlbi.nih.gov/science/framingham-heart-study-fhs), [Jackson Heart Study (JHS)](https://www.jacksonheartstudy.org/), and [Multi-Ethnic Study of Atherosclerosis (MESA)](https://www.mesa-nhlbi.org/). Together, for the GO-ESP, these cohorts have provided DNA and phenotype datasets from a diverse cohort of individuals of African and Caucasian ancestry and the datasets have been made available for the authorized investigators to access in 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 five primary phenotypes [early-onset myocardial infarction (EOMI), low density lipoprotein (LDL) cholesterol, body mass index/type 2 diabetes (BMI/T2D), blood pressure (BP), and ischemic stroke], for which initial ascertainment of samples for exome sequencing were made, and a randomly ascertained common comparison group with extensive phenotyping (deeply phenotyped reference, DPR). Additional phenotypes available on these selected samples permitted to perform a large array of additional analyses. These secondary phenotypes account for ~80 outcomes from both qualitative and quantitative traits. Results of the proposed analyses as well as relevant replication/follow-up analyses will be reported in peer-reviewed journals.