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

doi:10.3967/0895-3988.2011.02.001

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Volume 24 Issue 2

Apr. 2011

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Article Navigation > Biomedical and Environmental Sciences > 2011 > 24(2): 89-93

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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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

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

doi: 10.3967/0895-3988.2011.02.001

Beijing Stomatological Hospital, Capital Medical University, Beijing 100050, China
Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China

Funds: the National Natural Science Foundation of China(307009907)%Beijing Natural Science Foundation(7082038)%Beijing Foundation for Excellent Elite(2010D003034000013)

Abstract

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.
- Nonsyndromic cleft lip with or without palate,
- Homocysteine,
- Folate,
- Polymorphisms
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通讯作者: 陈斌, bchen63@163.com

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沈阳化工大学材料科学与工程学院沈阳 110142

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

doi: 10.3967/0895-3988.2011.02.001

Beijing Stomatological Hospital, Capital Medical University, Beijing 100050, China

Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China

Funds: the National Natural Science Foundation of China(307009907)%Beijing Natural Science Foundation(7082038)%Beijing Foundation for Excellent Elite(2010D003034000013)

Key words:

Nonsyndromic cleft lip with or without palate /
Homocysteine /
Folate /
Polymorphisms

Abstract: 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.

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