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.
基金：
National Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [307009907]; Beijing Natural Science FoundationBeijing Natural Science Foundation [7082038]; Beijing Foundation for Excellent Elite [2010D003034000013]
语种：
外文
被引次数：
WOS：
PubmedID：
中科院(CAS)分区：
出版当年[2010]版：
大类|4 区环境科学与生态学
小类|4 区环境科学4 区公共卫生、环境卫生与职业卫生
最新[2023]版：
大类|3 区医学
小类|4 区环境科学4 区公共卫生、环境卫生与职业卫生
JCR分区：
出版当年[2009]版：
Q4ENVIRONMENTAL SCIENCESQ4PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH
第一作者机构：[1]Capital Med Univ, Beijing Stomatol Hosp, Beijing 100050, Peoples R China
通讯作者：
推荐引用方式(GB/T 7714)：
Hu Ying,Chen ErJun,Mu Yue,et al.BHMT Gene Polymorphisms as Risk Factors for Cleft Lip and Cleft Palate in a Chinese Population[J].BIOMEDICAL AND ENVIRONMENTAL SCIENCES.2011,24(2):89-93.doi:10.3967/0895-3988.2011.02.001.
APA：
Hu Ying,Chen ErJun,Mu Yue,Li JinLu&Chen RenJi.(2011).BHMT Gene Polymorphisms as Risk Factors for Cleft Lip and Cleft Palate in a Chinese Population.BIOMEDICAL AND ENVIRONMENTAL SCIENCES,24,(2)
MLA：
Hu Ying,et al."BHMT Gene Polymorphisms as Risk Factors for Cleft Lip and Cleft Palate in a Chinese Population".BIOMEDICAL AND ENVIRONMENTAL SCIENCES 24..2(2011):89-93
