Contribution of copy number variants to schizophrenia in East Asian populations.

Studies on schizophrenia-associated rare copy number variants (CNVs) have predominantly focused on people of European (EUR) ancestry. Here we present a rare CNV study of schizophrenia in East Asian (EAS) populations, comprising 20,903 cases and 23,258 controls. We observed a significantly elevated genome-wide rare CNV burden in EAS cases compared with controls. Cross-population comparisons showed largely consistent rare CNV effects on schizophrenia risk. In the EAS sample, we identified nine genome-wide-significant schizophrenia-associated rare CNV loci. Meta-analysis with EUR data yielded 14 significant loci, including 8 that reached genome-wide significance for the first time. Genes within these 14 loci were significantly less tolerant to loss-of-function variants than genes in other CNV loci. The new rare CNVs associated with schizophrenia in EAS populations showed higher carrier frequencies in EAS than in EUR populations (0.38% versus 0.0017%). Overall, this study underscores the importance of increasing population diversity to fully capture the genetic underpinnings of schizophrenia.
Mental Health
Care/Management

Authors

Chen Chen, Feng Feng, Lam Lam, Yu Yu, Sun Sun, Huai Huai, Jana Jana, Fu Fu, Liao Liao, Ye Ye, Kim Kim, Tubbs Tubbs, Shanta Shanta, Thiruvahindrapuram Thiruvahindrapuram, Jen Jen, Zhao Zhao, Wang Wang, , Xu Xu, Shi Shi, Scherer Scherer, Zhu Zhu, Liu Liu, Guo Guo, Howrigan Howrigan, Daly Daly, Neale Neale, Sawa Sawa, Sebat Sebat, Talkowski Talkowski, Tang Tang, Ma Ma, Chen Chen, Qin Qin, Yue Yue, Ge Ge, Huang Huang
View on Pubmed
Share
Facebook
X (Twitter)
Bluesky
Linkedin
Copy to clipboard