title: MSX1 polymorphism associated with risk of oral cleft in Korea: evidence from case-parent trio and case-control studies.
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.
authors.affiliation: Department of Epidemiology and Health Promotion, Graduate School of Public Health, Yonsei University, Seoul 120-752, Korea.
authors.forename: Jungyong
authors.initials: J
authors.lastname: Park
authors.forename: Beyoung Yun
authors.initials: BY
authors.lastname: Park
authors.forename: Hyon-Suk
authors.initials: HS
authors.lastname: Kim
authors.forename: Jong Eun
authors.initials: JE
authors.lastname: Lee
authors.forename: Il
authors.initials: I
authors.lastname: Suh
authors.forename: Chung Mo
authors.initials: CM
authors.lastname: Nam
authors.forename: Dae Ryong
authors.initials: DR
authors.lastname: Kang
authors.forename: Suk
authors.initials: S
authors.lastname: Kim
authors.forename: Ji Eun
authors.initials: JE
authors.lastname: Yun
authors.forename: Eun Na
authors.initials: EN
authors.lastname: Go
authors.forename: Sun Ha
authors.initials: SH
authors.lastname: Jee
authors.forename: Terri H
authors.initials: TH
authors.lastname: Beaty
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007723:Korea; D015810:Linkage Disequilibrium; D051957:MSX1 Transcription Factor / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009679:Nuclear Family; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: D051957:MSX1 Transcription Factor; C484083:MSX1 protein, human