Abstract
Longitudinal, well phenotyped, population-based cohort studies offer unique research opportunities in the context of genome-wide association studies (GWAS), including GWAS for new-onset (incident) cardiovascular disease (CVD) events, the assessment of gene x lifestyle interactions, and evaluating the incremental predictive utility of genetic information in apparently healthy individuals. Furthermore, comprehensively phenotyped community-dwelling samples have contributed to GWAS of numerous traits that reflect normal organ function (e.g., cardiac structure and systolic and diastolic function) and for many traits along the CVD continuum (e.g., risk factors, circulating biomarkers, and subclinical disease traits). These GWAS have heretofore identified many genetic loci implicated in normal organ function and different stages of the CVD continuum. Finally, population-based cohort studies have made important contributions to Mendelian Randomization analyses, a statistical approach that uses genetic information to assess observed associations between cardiovascular traits and clinical CVD outcomes for potential causality.
Highlights
Reference Sample for GeneticEpidemiological AnalysesSince many community-dwelling samples are representative of the general population, population-based studies have served as reference (“control”) samples for many genetic case-control analyses
Specialty section: This article was submitted to Cardiovascular Genetics and Systems Medicine, a section of the journal Frontiers in Cardiovascular Medicine
Comprehensively phenotyped communitydwelling samples have contributed to genome-wide association studies (GWAS) of numerous traits that reflect normal organ function and for many traits along the cardiovascular disease (CVD) continuum
Summary
Since many community-dwelling samples are representative of the general population, population-based studies have served as reference (“control”) samples for many genetic case-control analyses. Given the large proportion of apparently healthy individuals in population-based cohort studies (as opposed to clinical samples), these studies conducted GWAS of many traits that reflect relatively normal organ function, including biomarkers of cardiac structure and systolic and diastolic function [21, 22]. These studies provided important insights how physiological organ function is influenced by genetic variation, and how organ dysfunction might contribute to different disease processes [21, 22]
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