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

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 TBX3 and TBX5 , P all =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.