Center for Common Disease Genomics: Atherosclerosis Risk in Communities (ARIC) Study

This sub-study [phs001536](./study.cgi?study_id=phs001536) CCDG_ARIC contains genotype, sequence data, and selected phenotype of subjects available from the [phs001536](./study.cgi?study_id=phs001536) study. Summary level phenotypes for the NHLBI ARIC Cohort study participants can be viewed at the top-level study page [phs000280](./study.cgi?study_id=phs000280) ARIC Cohort. Individual level phenotype data and molecular data for all ARIC Cohort top-level study and sub-study are available by requesting Authorized Access to the NHLBI ARIC Cohort [phs000280](./study.cgi?study_id=phs000280) study.

Cardiovascular diseases (CVD), especially coronary heart disease, heart failure and cerebrovascular disease remain the leading causes of death in men and women across all race groups in the United States. Substantial evidence exists for genetic factors underlying CVD risk, and their discovery offers an opportunity to enhance understanding of disease mechanisms, to provide specific diagnostic and prognostic indicators, and to identify novel therapeutic targets. Most contemporary genomic studies have achieved adequate power by increasing the size of the discovery sample to tens or hundreds of thousands of individuals. An alternative approach for detecting novel genes with variants of functional effect is to measure phenotypes that more immediately reflect genome function. By focusing on proximal measures of multiple cellular, physiologic and metabolic processes, the size of a gene's effect relative to the corresponding risk factor level or disease endpoint is optimized. In this study, whole genome sequencing (WGS) was carried out to identify genomic regions influencing the human serum metabolome in a random sample of 4,000 individuals from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL), a longitudinal cohort study of 16,415 diverse Latino Americans. In order to represent the three most common ethnic groups in the United States, 4,000 European American and African American participants were also selected from the prospective Atherosclerosis Risk in Communities (ARIC) Study (N = 15,792 at baseline). The goals of the study will be achieved by pursuing the following specific aims: 1) test the association between WGS data and metabolomics data already available in the same individuals to identify genomic regions and specific alleles that significantly influence individual metabolite levels and metabolomics patterns; 2) analyze existing genomic data (i.e., array genotype data) and the WGS data obtained in this study to evaluate whether the genomic variants identified in Aim 1 predict prevalent (i.e., cross-sectional) or incident (i.e., future) CVD events among approximately 12,800 HCHS/SOL and 14,758 ARIC study participants; and 3) create novel interfaces for the broader scientific community to access these data, including a searchable visualization tool and database of annotated genome-metabolome results. This study contains the Atherosclerosis Risk in Communities (ARIC) subset of the Center for Common Disease Genomics study. Additional data from the Center for Common Disease Genomics is also available via dbGaP. All sequencing was carried out at the Human Genome Sequencing Center at Baylor College of Medicine.