BHMT gene polymorphisms as risk factors for cleft lip and cleft palate in a Chinese population / 生物医学与环境科学(英文)
Biomedical and Environmental Sciences
;
(12): 89-93, 2011.
Article
in English
| WPRIM
| ID: wpr-306886
ABSTRACT
<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSION</b>Our study suggests that polymorphism rs3797546 in the BHMT gene may confer genetic risk of NSCL/P in a recessive manner.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Case-Control Studies
/
China
/
Gene Expression Regulation
/
Risk Factors
/
Cleft Lip
/
Cleft Palate
/
Genetic Predisposition to Disease
/
Polymorphism, Single Nucleotide
/
Asian People
/
Betaine-Homocysteine S-Methyltransferase
Type of study:
Etiology study
/
Observational study
/
Risk factors
Limits:
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Biomedical and Environmental Sciences
Year:
2011
Type:
Article
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