Copy number variant association analysis in 94,730 Chinese adults reveals loci influencing anthropometric and cardiometabolic traits

CNV genome-wide association study of 13 anthropometric and cardiometabolic traits in 94,730 adults from the China Kadoorie Biobank, a large East Asian study. We identify 19 independent locus-phenotype associations across 15 unique loci. Novel associations include random plasma glucose at 8p23.1 ({beta} = -0.29 SD, P = 5.40x10-8) and 14q11.2 ({beta} = +0.43 SD, P = 8.41x10-7), diastolic blood pressure at 7p21.1 ({beta} = +0.75 SD, P = 5.25x10-6), and duplication-associated reductions in body fat percentage at 12p12.1 ({beta} = -0.74 SD, P = 8.11x10-6) and 17q12 ({beta} = -0.56 SD, P = 7.36x10-6). We also replicated established dosage-sensitive regions, most prominently at two distinct intervals within 16p11.2 (BP2-BP3 and BP4-BP5), where CNVs show large bidirectional dosage effects across 5 adiposity traits including body mass index ({beta} = -0.84 SD per copy, P = 1.77x10-8). These findings identify structural variants contributing to cardiometabolic and anthropometric trait variation in Chinese adults and expand the ancestry diversity of CNV association studies.