Abstract
<jats:p> 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 (β = -0.29 SD, P = 5.40×10 <jats:sup>−8</jats:sup> ) and 14q11.2 (β = +0.43 SD, P = 8.41×10 <jats:sup>−7</jats:sup> ), diastolic blood pressure at 7p21.1 (β = +0.75 SD, P = 5.25×10 <jats:sup>−6</jats:sup> ), and duplication-associated reductions in body fat percentage at 12p12.1 (β = -0.74 SD, P = 8.11×10 <jats:sup>−6</jats:sup> ) and 17q12 (β = -0.56 SD, P = 7.36×10 <jats:sup>−6</jats:sup> ). 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 (β = -0.84 SD per copy, P = 1.77×10 <jats:sup>−8</jats:sup> ). These findings identify structural variants contributing to cardiometabolic and anthropometric trait variation in Chinese adults and expand the ancestry diversity of CNV association studies. </jats:p>