Association and cumulative effects of GWAS-identified genetic variants for nonsyndromic orofacial clefts in a Chinese population

Environ Mol Mutagen. 2013 May;54(4):261-7. doi: 10.1002/em.21773. Epub 2013 Mar 27.

Abstract

A recent genome-wide meta-analysis identified six new susceptible genetic variants for nonsyndromic orofacial clefts (NSOC), but it was still unknown whether these newly identified variants were associated with NSOC susceptibility in Chinese populations. In this study, we genotyped these variants in a case-control study of 602 NSOC cases and 605 controls and found that four of these variants (rs7590268, rs7632427, rs12543318, and rs1873147) were associated with susceptibility to NSOC. We further investigated the cumulative effects of these four variants and found a dose-dependent increase in risk with the number of variant alleles. Furthermore, an association was observed between rs7590268 and a family history of NSOC. Our results provide confirmative evidence that these risk loci contribute to NSOC susceptibility in Chinese populations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • Child
  • China
  • Cleft Lip / genetics*
  • Cleft Palate / genetics*
  • Female
  • Gene Frequency
  • Genome-Wide Association Study
  • Haplotypes
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics
  • Male
  • Membrane Proteins
  • Neoplasm Proteins / genetics
  • PAX7 Transcription Factor / genetics
  • Polymorphism, Single Nucleotide*
  • Receptor Protein-Tyrosine Kinases / genetics
  • Receptor, EphA3
  • Risk
  • Sequence Analysis, DNA
  • Tropomyosin / genetics

Substances

  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • Neoplasm Proteins
  • PAX7 Transcription Factor
  • PAX7 protein, human
  • SPRY2 protein, human
  • THADA protein, human
  • TPM1 protein, human
  • Tropomyosin
  • EPHA3 protein, human
  • Receptor Protein-Tyrosine Kinases
  • Receptor, EphA3