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MSX1 Polymorphism Associated with Risk of Oral Cleft in Korea: Evidence from Case-Parent Trio and Case-Control Studies
Yonsei med. j ; Yonsei med. j;: 101-108, 2007.
Article de En | WPRIM | ID: wpr-200060
Bibliothèque responsable: WPRO
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.
Mots clés
Texte intégral: 1 Indice: WPRIM Type d'étude: Etiology_studies / Observational_studies / Risk_factors_studies langue: En Texte intégral: Yonsei med. j Année: 2007 Type: Article
Texte intégral: 1 Indice: WPRIM Type d'étude: Etiology_studies / Observational_studies / Risk_factors_studies langue: En Texte intégral: Yonsei med. j Année: 2007 Type: Article