Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

摘要: Abnormal plasma apolipoprotein levels are consistently implicated in CVD risk. Although 30% to 60% of their interindividual variability is genetic, common genetic variants explain only 10% 20% these differences. Rare may be major sources the missing heritability, yet quantitative evaluations contribution phenotypic lacking. Here, we analyzed whole-genome and whole-exome sequencing data from 138,632 individuals across seven human populations present a systematic overview variability. We provide population-specific frequencies 38 clinically important alleles identify further 6,875 variants, 33% which novel 98.7% rare with minor allele