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

HU Ying CHEN ErJun MU Yue LI JinLu CHEN RenJi

HU Ying, CHEN ErJun, MU Yue, LI JinLu, CHEN RenJi. 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
Citation: HU Ying, CHEN ErJun, MU Yue, LI JinLu, CHEN RenJi. 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

doi: 10.3967/0895-3988.2011.02.001
基金项目: the National Natural Science Foundation of China(307009907)%Beijing Natural Science Foundation(7082038)%Beijing Foundation for Excellent Elite(2010D003034000013)

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

Funds: the National Natural Science Foundation of China(307009907)%Beijing Natural Science Foundation(7082038)%Beijing Foundation for Excellent Elite(2010D003034000013)
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出版历程
  • 刊出日期:  2011-04-20

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

doi: 10.3967/0895-3988.2011.02.001
    基金项目:  the National Natural Science Foundation of China(307009907)%Beijing Natural Science Foundation(7082038)%Beijing Foundation for Excellent Elite(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% Cl=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.

English Abstract

HU Ying, CHEN ErJun, MU Yue, LI JinLu, CHEN RenJi. 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
Citation: HU Ying, CHEN ErJun, MU Yue, LI JinLu, CHEN RenJi. 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

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