MSX1 polymorphism associated with risk of oral cleft in Korea: Evidence from case-parent trio and case-control studies

Jungyong Park, Beyoung Yun Park, Hyon Suk Kim, Jong Eun Lee, Il Suh, Chung Mo Nam, Dae Ryong Kang, Suk Kim, Ji Eun Yun, Eun Na Go, Sun Ha Jee, Terri H. Beaty

Research output: Contribution to journalArticlepeer-review

Abstract

Orofacial clefts, including cleft lip with or without palate (CL/P) and cleft palate (CP), are one of the most common congenital malformations in Asian populations, where the rate of incidence is higher than in European or other racial groups. A number of candidate genes have been identified for orofacial clefts, although no single candidate has been consistently identified in all studies. We performed case-parent trio and case-control studies on 6 single nucleotide polymorphisms (SNPs) in the MSX1 gene using a sample of 52 CL/P and CP probands from Korea. In the case-control study, the allele frequencies of 6 MSX1 SNPs were compared between 52 oral cleft cases and 96 unmatched controls. For the case-parent trio study, single-marker and haplotype-based test of transmission disequilibrium using allelic and genotypic tests revealed significant evidence of linkage in the presence of disequilibrium for 1170 G/A of exon 2. With the GG genotype as a reference group among GG, GA, and AA genotypes at 1170G/A, the disease risk decreased with the presence of the A allele (AA genotype: OR= 0.26, 95% CI = 0.10-0.99). These results are consistent with evidence from other studies in the US and Chile and confirm the importance of the MSX1 genotype in determining the risk of CL/P and CP in Koreans.

Original languageEnglish (US)
Pages (from-to)101-108
Number of pages8
JournalYonsei Medical Journal
Volume48
Issue number1
DOIs
StatePublished - Feb 2007

Keywords

  • Case trio study
  • Case-control study
  • Cleft
  • Gene
  • MSX1

ASJC Scopus subject areas

  • Medicine(all)

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