SUMMARY: Identification of 28 genetic variants associated with the left ventricular end-systolic volume (LVESV).
OVERVIEW: The human heart is a muscle that pumps blood throughout the body. It consists of 4 chambers: 2 atria (left and right) and 2 ventricles (left and right). Blood that has been enriched with oxygen in the lungs enters the left atrium and then flows into the left ventricle from where it’s pumped to all other parts of the body. Left ventricular end-systolic volume (LVESV) is the volume of blood that remains in the left ventricle at the end of a pump. The average LVESV is 41mL for women and 58mL for men and can be used as a measure of heart health. This genome-wide association study examined the genomes of 36,000 individuals of European ancestry to better understand the genetic basis of LVESV. The study identified 28 genomic regions associated with LVESV adjusted for body-surface-area. The study also found that a high polygenic score for body-surface-area adjusted LVESV was strongly correlated with the risk of dilated cardiomyopathy. This condition describes a heart muscle that is too stretched and thin and cannot pump efficiently.
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LVESV-ASSOCIATED VARIANTS: rs72840788, rs945425, rs2562845, rs73028849, rs5760061, rs3176326, rs10421891, rs12452367, rs34373805, rs8063213, rs79502300, rs1962104, rs11023059, rs189569984, rs9892651, rs1499813, rs2302455, rs11748963, rs10871753, rs116904997, rs190093681, rs709208, rs2886037, rs242562
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WEEKLY UPDATE: May 19, 2020