講演情報
[OE7-4]日本人集団におけるアソータティブメイティングの遺伝的な足跡
○山本 賢一1,2, 曽根原 究人1, 難波 真一1, 小沼 貴裕1, 増子 裕典3, 宮脇 哲4, The Biobank Japan Project5, 鎌谷 洋一郎6, 檜澤 伸之3, 大薗 恵一1, Yengo Loic7, 岡田 随象1,2,4,8 (1.大阪大学大学院医学系研究科, 2.大阪大学免疫学フロンティア研究センター, 3.筑波大学医学医療系, 4.東京大学大学院医学系研究科, 5.The Biobank Japan Project, 6.東京大学大学院新領域創成科学研究科, 7.Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia, 8.理化学研究所生命医科学研究センター)
Assortative mating (AM) is a commonly observed phenomenon, where individuals with similar phenotypes tend to get married. Detecting the genetic signature of AM on a polygenic trait has been challenging due to a lack of large-scale spousal data and confounding of population stratification in non-European populations. The recently developed method using polygenic scores by Yengo et al enabled us to estimate the genetic effect of parental AM without spousal data by estimating the correlation between physically distant trait-associated alleles beyond linkage disequilibrium (i.e., gametic phase disequilibrium [GPD]). Here, we provide the genetic signatures of AM in the Japanese population (n = 172,270). Adopting the leave-one-group-out method, we calculated GPD estimates (θ) across 81 complex traits with the robust adjustment for population stratification. Our study detected the significant population-specific effect of parental AM on cardiometabolic diseases (type 2 diabetes [T2D] and coronary artery diseases [CAD]), and behavioral and dietary habits (θT2D = 0.018, standard error [SE] = 0.0025, P = 5.2 × 10-14, θCAD = 0.015, SE = 0.0025, P = 2.2 × 10-9). We also identified that the shared but heterogeneous impacts of AM on an adult height between populations by comparing the results from UK Biobank resources (n = 337,139, θHeight in Japanese = 0.0073 vs θHeight in European = 0.030). Our study demonstrated the genetic signatures of parental AM in the Japanese population.