S-Space College of Dentistry/School of Dentistry (치과대학/치의학대학원) Dept. of Dental Science(치의과학과) Theses (Ph.D. / Sc.D._치의과학과)
Association between MSX1 SNPs and nonsyndromic cleft lip with or without cleft palate in the Korean population
- 치과대학 치의과학과
- Issue Date
- 서울대학교 대학원
- 학위논문 (박사)-- 서울대학교 대학원 : 치의과학과 치과교정학 전공, 2013. 8. 백승학.
- The purpose of this study was to investigate the contribution of MSX1 gene to the risk of nonsyndromic cleft lip with or without cleft palate (NS-CL/P) in the Korean population. The samples consisted of 142 NS-CL/P families (9 with cleft lip, 26 with cleft lip and alveolus, and 107 with cleft lip and palate
76 trios and 66 dyads). Three single nucleotide polymorphisms (SNPs: rs3821949 (G>A), rs12532 (A>G), and rs4464513 (T>G)) were tested for association with NS-CL/P case-parent trios using transmission disequilibrium test (TDT) and conditional logistic regression models (CLRMs). Minor allele frequency, heterozygosity, χ2 test for Hardy-Weinberg equilibrium, and pairwise linkage disequilibrium (LD) at each SNP were computed. The family- and haplotype-based association test programs were used to perform allelic and genotypic TDTs for individual SNPs and to fabricate sliding windows of haplotypes. Genotypic odds ratios (GORs) were obtained from CLRMs using R software. Although the family-based TDT indicated a meaningful association for rs3821949 (G>A) (P=0.028), the haplotype analysis did not reveal any significant association with rs3821949 (G>A), rs12532 (A>G), or rs4464513 (T>G). The A allele at rs3821949 (G>A) had a significant increased risk of NS-CL/P (GOR, 1.64
95% confidence interval, 1.03-2.63
P=0.0384, additive model). A positive association is suggested between MSX1 rs3821949 (G>A) and NS-CL/P in the Korean population. The results of this study may increase the genetic understanding of the etiological role of the MSX1 gene in Korean NS-CL/P.