Association of single-nucleotide polymorphisms, rs2235371 and rs2013162, in the IRF6 gene with non-syndromic cleft palate in northeast China

Genet Mol Res. 2016 Sep 2;15(3). doi: 10.4238/gmr.15038210.

Abstract

The aim of this study was to determine the association between two SNPs (rs2235371 and rs2013162) in the interferon regulatory factor 6 (IRF6) gene and non-syndromic cleft palate (NSCP) in northeast China. We genotyped these two SNPs in 104 NSCP cases, as well as in 178 parents and 300 controls. Case-control and case-parent analyses were performed using χ2 tests and family-based association tests (FBAT). Results indicated that there were significant differences in both genotypic and allelic distributions between patients and controls at rs2235371 and rs2013162 in the IRF6 gene. Case-parent analysis revealed over-transmission of the C allele in rs2235371 and the A allele in rs2013162. Lastly, FBAT showed over-transmission of the CA haplotype. This study demonstrated that the two SNPs, rs2235371 and rs2013162, are strongly associated with NSCP in the northeast Chinese population.

MeSH terms

  • Adult
  • Alleles
  • Asian People
  • Asymptomatic Diseases
  • Case-Control Studies
  • Child
  • Cleft Palate / diagnosis
  • Cleft Palate / ethnology
  • Cleft Palate / genetics*
  • Female
  • Gene Expression
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Haplotypes
  • Humans
  • Interferon Regulatory Factors / genetics*
  • Male
  • Phenotype
  • Polymorphism, Single Nucleotide*

Substances

  • IRF6 protein, human
  • Interferon Regulatory Factors