2019 年 24 巻 2 号 p. 73-80
Our longitudinal exome-wide association studies previously detected a total of 210 genetic determinants of nine complex disorders examined, using single nucleotide polymorphisms (SNPs) and longitudinal medical examination data from 6022 Japanese individuals who have undergone annual health checkups for several years. According to information on 1000 Genomes Project database, allele frequencies of seven disease-associated SNPs appear to have largely changed since the divergence of East Asian and other ethnic groups. Of the seven SNPs, one might be a Japanese-specific SNP associated with dyslipidemia. In this review, I summarize the East Asian- or Japanese-specific genetic variants identified by our longitudinal exome-wide association studies in Japanese population.