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

Y Lin, X Guo, B Zhao, J Liu, M Da, Y Wen, Y Hu… - Nature …, 2015 - nature.com
Y Lin, X Guo, B Zhao, J Liu, M Da, Y Wen, Y Hu, B Ni, K Zhang, S Yang, J Xu, J Dai, X Wang…
Nature communications, 2015nature.com
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, P all= 1.63× 10− 9), 9p24. 2
(rs7863990, close to SMARCA2, P all= 3.71× 10− 14), 12q24. 13 (rs2433752, upstream of …
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, Pall=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.
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