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

作　　者：HU Ying CHEN ErJun MU Yue LI JinLu CHEN RenJi 

机构地区：[1]Beijing Stomatological Hospital, Capital Medical University, Beijing 100050, China [2]Beijing TongrenHospital, Capital Medical University, Beijing 100730, China

出　　处：《Biomedical and Environmental Sciences》2011年第2期89-93,共5页生物医学与环境科学（英文版）

基　　金：supported by the National Natural Science Foundation of China (grant number 307009907);Beijing Natural Science Foundation (grant number 7082038);Beijing Foundation for Excellent Elite (grant number 2010D003034000013)

摘　　要：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.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.

关 键 词：Nonsyndromic cleft lip with or without palate HOMOCYSTEINE Folate POLYMORPHISMS 

分 类 号：Q346.5[生物学—遗传学] TQ086[化学工程]