BHMT Gene Polymorphisms as Risk Factors for Cleft Lip and Cleft Palate in a Chinese Population

• Published in: Biomedical and environmental sciences 2011-04, Vol.24 (2), p.89-93
• Main Authors: HU, Ying, CHEN, ErJun, MU, Yue, LI, JinLu, CHEN, RenJi
• Format: Article
• Language: English
• Subjects: Asian Continental Ancestry Group - genetics; Betaine-Homocysteine S-Methyltransferase - genetics; Betaine-Homocysteine S-Methyltransferase - metabolism; Case-Control Studies; China; Cleft Lip - genetics; Cleft Palate - genetics; Folate; Gene Expression Regulation; Genetic Predisposition to Disease; Genotype; Homocysteine; Humans; Nonsyndromic cleft lip with or without palate; Polymorphism, Single Nucleotide; Polymorphisms; Risk Factors; SNPs; TaqMan; 中国人口; 单核苷酸多态性; 危险因素; 同型半胱氨酸; 基因多态性; 遗传变异
• ISSN: 0895-3988; 2214-0190
• DOI: 10.3967/0895-3988.2011.02.001

Objective Convincing evidence suggests a link between increased risk of nonsyndromic cleft lip with or without cleft palate （NSCL/P） and low intake of folic acid by the mother during pregnancy. The present study was designed to explore if genetic variation in the betaine‐homocysteine methyltransferase （BHMT） gene contributes to NSCL/P. Methods DNA was obtained from 166 individuals with NSCL/P and 285 healthy subjects. Three known single nucleotide polymorphisms （SNPs） present in the BHMT gene （rs651852, rs3797546, and rs3733890） were investigated by real‐time PCR‐based TaqMan genotyping. Results Neither allelic nor genotypic association was found between NSCL/P and SNPs rs651852 and rs3733890. SNP rs3797546 did not show allelic association with NSCL/P; however, a higher proportion of NSCL/P patients carry the CC genotype compared with the TT＋CT genotype （P=0.020, OR=2.10, 95% CI=1.11‐3.95）. Conclusion Our study suggests that polymorphism rs3797546 in the BHMT gene may confer genetic risk of NSCL/P in a recessive manner.