MSX1 Polymorphism Associated with Risk of Oral Cleft in Korea: Evidence from Case-Parent Trio and Case-Control Studies.
10.3349/ymj.2007.48.1.101
- Author:
Jungyong PARK
1
;
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
Author Information
1. Department of Epidemiology and Health Promotion, Graduate School of Public Health, Yonsei University College of Medicine, Seoul, Korea. jsunha@yumc.yonsei.ac.kr
- Publication Type:Original Article ; Research Support, Non-U.S. Gov't
- Keywords:
Cleft;
MSX1;
gene;
case-control study;
case trio study
- From:Yonsei Medical Journal
2007;48(1):101-108
- CountryRepublic of Korea
- Language:English
-
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.
