[This page is intended to provide a study summary, the sections of which are below. Please complete these sections, as applicable. The headings below are suggested headings. You can remove inapplicable sections, or add new ones relevant to your study]
Investigator Names and Contact Information
Charles Kooperberg [firstname.lastname@example.org ]
disease (CVD) is a multifactorial disease with many risk factors including
dyslipidemia, hypertension, type 2 diabetes and obesity. These risk factors tend to aggregate in
families, but the relative influence of environmental and genetic factors
remains unclear. Several studies suggest
that CVD risk factors are in part heritable.
Recently, genome-wide association studies (GWAS) have identified common
risk alleles associated with CVD risk factors.
However, in spite of these successes, a significant fraction of the
heritability of these traits remains unexplained. The approaches used to date have limited
ability to detect rare and less common alleles, and few studies have been
conducted in multi-ethnic populations.
Furthermore, these approaches may not capture functional variants,
hampering investigation of the variants with the most potential for clinical and
public health applications. To
comprehensively investigate common, less frequent and rare non-synonymous
variants across the protein coding regions of the entire genome, the “exome,”
and their associations with CVD risk factors we propose to use the newly
developed Exomechip genotyping platform in a race/ethnicity diverse subset
(n=23,619) of WHI. Newly identified
susceptibility loci may better quantify the proportion of CVD risk factor
phenotypes explained by genetic variants and also provide insights into CVD molecular