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

Lookup NU author(s): Professor Bernard Keavney, Professor Judith Goodship, Professor Heather Cordell


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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 x 10(-8)) evidence of 4 additional CHD susceptibility loci at 4q31.22 (rs1400558, upstream of EDNRA, P-all = 1.63 x 10(-9)), 9p24.2 (rs7863990, close to SMARCA2, P-all = 3.71 x 10(-14)), 12q24.13 (rs2433752, upstream of TBX3 and TBX5, P-all = 1.04 x 10(-10)) and 20q12 (rs490514, in PTPRT, P-all = 1.20 x 10(-13)). Moreover, the data from previous European GWAS supports that rs490514 is associated with the risk of CHD (P = 3.40 x 10(-3)). These results enhance our understanding of CHD susceptibility.

Publication metadata

Author(s): Lin Y, Guo XJ, Zhao BJ, Liu JJ, Da M, Wen Y, Hu YL, Ni BX, Zhang K, Yang SW, Xu J, Dai JC, Wang XW, Xia YK, Ma HX, Jin GF, Yu SQ, Liu JY, Keavney BD, Goodship JA, Cordell HJ, Wang XR, Shen HB, Sha JH, Zhou ZM, Chen YJ, Mo XM, Luo LF, Hu ZB

Publication type: Article

Publication status: Published

Journal: Nature Communications

Year: 2015

Volume: 6

Online publication date: 18/08/2015

Acceptance date: 15/07/2015

ISSN (electronic): 2041-1723

Publisher: Nature Publishing Group


DOI: 10.1038/ncomms9082


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