A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations

Zhibin Hu, Yongyong Shi, Xuming Mo, Jing Xu, Bijun Zhao, Yuan Lin, Shiwei Yang, Zhengfeng Xu, Juncheng Dai, Shandong Pan, Min Da, Xiaowei Wang, Bo Qian, Yang Wen, Juan Wen, Jinliang Xing, Xuejiang Guo, Yankai Xia, Hongxia Ma, Guangfu JinShiqiang Yu, Jiayin Liu, Zuomin Zhou, Xinru Wang, Yijiang Chen, Jiahao Sha, Hongbing Shen

Research output: Contribution to journalArticle

45 Scopus citations

Abstract

Congenital heart malformation (CHM) is the most common form of congenital human birth anomaly and is the leading cause of infant mortality. Although some causative genes have been identified, little progress has been made in identifying genes in which low-penetrance susceptibility variants occur in the majority of sporadic CHM cases. To identify common genetic variants associated with sporadic non-syndromic CHM in Han Chinese populations, we performed a multistage genome-wide association study (GWAS) in a total of 4,225 CHM cases and 5,112 non-CHM controls. The GWAS stage included 945 cases and 1,246 controls and was followed by 2-stage validation with 2,160 cases and 3,866 controls. The combined analyses identified significant associations (P < 5.0 × 10 -8) at 1p12 (rs2474937 near TBX15; odds ratio (OR) = 1.40; P = 8.44 × 10 -10) and 4q31.1 (rs1531070 in MAML3; OR = 1.40; P = 4.99 × 10 -12). These results extend current knowledge of genetic contributions to CHM in Han Chinese populations.

Original languageEnglish (US)
Pages (from-to)818-821
Number of pages4
JournalNature genetics
Volume45
Issue number7
DOIs
StatePublished - Jul 2013
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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    Hu, Z., Shi, Y., Mo, X., Xu, J., Zhao, B., Lin, Y., Yang, S., Xu, Z., Dai, J., Pan, S., Da, M., Wang, X., Qian, B., Wen, Y., Wen, J., Xing, J., Guo, X., Xia, Y., Ma, H., ... Shen, H. (2013). A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations. Nature genetics, 45(7), 818-821. https://doi.org/10.1038/ng.2636