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.
ASJC Scopus subject areas
- Biochemistry, Genetics and Molecular Biology(all)
- Physics and Astronomy(all)