NHLBI GO-ESP: Heart Cohorts Exome Sequencing Project (CHS)

**Note: This substudy phs000400 GO-ESP Cardiovascular Health Study contains harmonized phenotype data, whole exome sequencing and .vcf data of the subset of the CHS cohort selected for NHLBI's GO-ESP Exome Sequencing Project. Summary level phenotypes of the Cardiovascular Health Cohort study participants may be viewed at the top-level study page, phs000287 Cardiovascular Health Study (CHS) Cohort. Individual level phenotype data and molecular data for the top-level Cardiovascular Health Study and its substudies are available by requesting Authorized Access to the Cardiovascular Health Study (CHS) Cohort study [phs000287](./study.cgi?study_id=phs000287).**

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 (CHS), the Framingham Heart Study (FHS), the Jackson Heart Study (JHS), and the Multi-Ethnic Study of Atherosclerosis (MESA). Together, for the GO-ESP, these cohorts have provided DNA and phenotype datasets from a diverse cohort of individuals of African and Caucasian 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 five primary phenotypes for which initial ascertainment of samples for exome sequencing were made (early-onset myocardial infarction (EOMI), low density lipoprotein (LDL) cholesterol, body mass index/type 2 diabetes (BMI/T2D), blood pressure and ischemic stroke), and a randomly ascertained common comparison group with extensive phenotyping (deeply phenotyped reference, DPR). Additional phenotypes available on these selected samples permitted a large array of additional analyses to be performed. 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.