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Association between the European GWAS-Identified Susceptibility Locus at Chromosome 4p16 and the Risk of Atrial Septal Defect: A Case-Control Study in Southwest China and a Meta-Analysis

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  • Li Zhao
  • Bei Li
  • Ke Dian
  • Binwu Ying
  • Xiaojun Lu
  • Xuejiao Hu
  • Qi An
  • Chunxia Chen
  • Chunyan Huang
  • Bin Tan
  • Li Qin

Abstract

Atrial septal defect (ASD) is the third most frequent type of congenital heart anomaly, featuring shunting of blood between the two atria. Gene-environment interaction remains to be an acknowledged cause for ASD occurrence. A recent European genome-wide association study (GWAS) of congenital heart disease (CHD) identified 3 susceptibility SNPs at chromosome 4p16 associated with ASD: rs870142, rs16835979 and rs6824295. A Chinese-GWAS of CHD conducted in the corresponding period did not reveal the 3 susceptibility SNPs, but reported 2 different risk SNPs: rs2474937 and rs1531070. Therefore, we aimed to investigate the associations between the 3 European GWAS-identified susceptibility SNPs and ASD risk in the Han population in southwest China. Additionally, to increase the robustness of our current analysis, we conducted a meta-analysis combining published studies and our current case-control study. We performed association, linkage disequilibrium, and haplotype analysis among the 3 SNPs in 190 ASD cases and 225 age-, sex-, and ethnicity-matched healthy controls. Genotype and allele frequencies among the 3 SNPs showed statistically significant differences between the cases and controls. Our study found that individuals carrying the allele T of rs870142, the allele A of rs16835979, and the allele T of rs6824295 had a respective 50.1% (odds ratio (OR) = 1.501, 95% confidence interval (CI) = 1.122-2.009, PFDR-BH = 0.018), 48.5% (OR = 1.485, 95%CI = 1.109-1.987, PFDR-BH = 0.012), and 38.6% (OR = 1.386, 95%CI = 1.042-1.844, PFDR-BH = 0.025) increased risk to develop ASD than wild-type allele carriers in our study cohort. In the haplotype analysis, we identified a disease-risk haplotype (TAT) (OR = 1.540, 95%CI = 1.030-2.380, PFDR-BH = 0.016). Our meta-analysis also showed that the investigated SNP was associated with ASD risk (combined OR (95%CI) = 1.35 (1.24-1.46), P

Suggested Citation

  • Li Zhao & Bei Li & Ke Dian & Binwu Ying & Xiaojun Lu & Xuejiao Hu & Qi An & Chunxia Chen & Chunyan Huang & Bin Tan & Li Qin, 2015. "Association between the European GWAS-Identified Susceptibility Locus at Chromosome 4p16 and the Risk of Atrial Septal Defect: A Case-Control Study in Southwest China and a Meta-Analysis," PLOS ONE, Public Library of Science, vol. 10(4), pages 1-9, April.
    • Handle: RePEc:plo:pone00:0123959
    DOI: 10.1371/journal.pone.0123959
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    1. Vidu Garg & Irfan S. Kathiriya & Robert Barnes & Marie K. Schluterman & Isabelle N. King & Cheryl A. Butler & Caryn R. Rothrock & Reenu S. Eapen & Kayoko Hirayama-Yamada & Kunitaka Joo & Rumiko Matsuo, 2003. "GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5," Nature, Nature, vol. 424(6947), pages 443-447, July.
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