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

 Jungyong Park  ;  Beyoung Yun Park  ;  Terri H. Beaty  ;  Sun Ha Jee  ;  Eun Na Go  ;  Ji Eun Yun  ;  Suk Kim  ;  Dae Ryong Kang  ;  Chung Mo Nam  ;  Il Suh  ;  Jong Eun Lee  ;  Hyon-Suk Kim 
 YONSEI MEDICAL JOURNAL, Vol.48(1) : 101-108, 2007 
Journal Title
Issue Date
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.
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4. Graduate School of Public Health (보건대학원) > Graduate School of Public Health (보건대학원) > 1. Journal Papers
1. College of Medicine (의과대학) > Medical Research Center (임상의학연구센터) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Preventive Medicine and Public Health (예방의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Plastic and Reconstructive Surgery (성형외과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Anatomy (해부학교실) > 1. Journal Papers
Yonsei Authors
Kang, Dae Ryong(강대용)
Go, Eun Na(고은나)
Kim, Hyon Suk(김현석)
Nam, Chung Mo(남정모) ORCID logo https://orcid.org/0000-0003-0985-0928
Park, Beyoung Yun(박병윤)
Suh, Il(서일) ORCID logo https://orcid.org/0000-0002-9689-7849
Yun, Ji Eun(윤지은)
Lee, Jong Eun(이종은) ORCID logo https://orcid.org/0000-0001-6203-7413
Jee, Sun Ha(지선하) ORCID logo https://orcid.org/0000-0001-9519-3068
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