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

Nat Commun. 2015 Aug 18:6:8082. doi: 10.1038/ncomms9082.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics*
  • Case-Control Studies
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Genotype
  • Heart Defects, Congenital / ethnology*
  • Heart Defects, Congenital / genetics*
  • Humans
  • Polymorphism, Single Nucleotide
  • Reproducibility of Results