Update on genetics and molecular biology

摘要

Familial hypercholesterolemia is an autosomal dominant monogenic disorder that overall affects 1/250 individuals in the general population and that causes early myocardial infarction (MI) [1]. Genome-wide association studies (GWAS) can be used to develop polygenic scores of common genetic variants that confer cumulative impact on a given disease development, and therefore, may help identify predisposed individuals. Khera et al. [2"] using a whole genome sequencing approach tested the association of either familial hypercholesterolemia variants or of a previously developed polygenic score with the presence of early MI (<55 years old, n= 2018, mean age 48 years, 66% women, 75% whites). Cases were compared with controls from the Multiethnic Study on Atherosclerosis (MESA).