Association analysis identifies new risk loci for congenital heart disease in Chinese populations

Yuan Lin, Xuejiang Guo, Bijun Zhao, Juanjuan Liu, Min Da, Yang Wen, Yuanli Hu, Bixian Ni, Kai Zhang, Shiwei Yang, Jing Xu, Juncheng Dai, Xiaowei Wang, Yankai Xia, Hongxia Ma, Guangfu Jin, Shiqiang Yu, Jiayin Liu, Bernard D. Keavney, Judith A. GoodshipHeather J. Cordell, Xinru Wang, Hongbing Shen, Jiahao Sha, Zuomin Zhou, Yijiang Chen, Xuming Mo, Lingfei Luo, Zhibin Hu

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Abstract

Our previous genome-wide association study (GWAS) identified two susceptibility loci for congenital heart disease (CHD) in Han Chinese. Here we identify additional loci by testing promising associations in an extended 3-stage validation consisting of 6,053 CHD cases and 7,410 controls. We find GW significant (P<5.0 × 10-8) evidence of 4 additional CHD susceptibility loci at 4q31.22 (rs1400558, upstream of EDNRA, Pall =1.63 × 10-9), 9p24.2 (rs7863990, close to SMARCA2, Pall =3.71 × 10-14), 12q24.13 (rs2433752, upstream of TBX3 and TBX5, Pall =1.04 × 10-10) and 20q12 (rs490514, in PTPRT, P all =1.20 × 10-13). Moreover, the data from previous European GWAS supports that rs490514 is associated with the risk of CHD (P=3.40 × 10-3). These results enhance our understanding of CHD susceptibility.

Original languageEnglish (US)
Article number8082
JournalNature communications
Volume6
DOIs
StatePublished - Aug 18 2015

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ASJC Scopus subject areas

  • Chemistry(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Physics and Astronomy(all)

Cite this

Lin, Y., Guo, X., Zhao, B., Liu, J., Da, M., Wen, Y., Hu, Y., Ni, B., Zhang, K., Yang, S., Xu, J., Dai, J., Wang, X., Xia, Y., Ma, H., Jin, G., Yu, S., Liu, J., Keavney, B. D., ... Hu, Z. (2015). Association analysis identifies new risk loci for congenital heart disease in Chinese populations. Nature communications, 6, [8082]. https://doi.org/10.1038/ncomms9082