Yonsei Med J.  2007 Feb;48(1):101-108. 10.3349/ymj.2007.48.1.101.

MSX1 Polymorphism Associated with Risk of Oral Cleft in Korea: Evidence from Case-Parent Trio and Case-Control Studies

• Park J
• Park BY
• Kim HS
• Lee JE
• Suh I
• Nam CM
• Kang DR
• Kim S
• Yun JE
• Go EN
• Jee SH
• Beaty TH

• KMID: 1093530
• DOI: http://doi.org/10.3349/ymj.2007.48.1.101

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 tests 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.

Keyword

Cleft; MSX1; gene; case-control study; case trio study

Figure

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  Fig. 1 Locations of SNPs in the MSX1 gene labeled according to base pair position.

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  Fig. 2 Linkage disequilibrium (D' top triangle; all p values < 0.01) between all markers in the MSX1 gene among Korean oral cleft case-parent trios.

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