Presentation Information
[OE7-4]Genetic signatures of assortative mating in the Japanese population
○Kenichi Yamamoto1,2, Kyuto Sonehara1, Shinichi Namba1, Takahiro Konuma1, Hironori Masuko3, Satoru Miyawaki4, The Biobank Japan Project5, Yoichiro Kamatani6, Nobuyuki Hizawa3, Keiichi Ozono1, Loic Yengo7, Yukinori Okada1,2,4,8 (1.Osaka University Graduate School of Medicine, Suita, Japan, 2.Immunology Frontier Research Center (WPI-IFReC), Osaka University, Suita, Japan, 3.Faculty of Medicine, University of Tsukuba, Tsukuba, Japan, 4.Graduate School of Medicine, the University of Tokyo, Tokyo, Japan, 5.The Biobank Japan Project, 6.Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan, 7.Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia, 8.RIKEN Center for Integrative Medical Sciences, Yokohama, Japan)
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.