BHMT gene polymorphisms as risk factors for cleft lip and cleft palate in a Chinese population.
- Author:
Ying HU
1
;
Erjun CHEN
;
Yue MU
;
Jinlu LI
;
Renji CHEN
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; genetics; Betaine-Homocysteine S-Methyltransferase; genetics; metabolism; Case-Control Studies; China; Cleft Lip; genetics; Cleft Palate; genetics; Gene Expression Regulation; Genetic Predisposition to Disease; Genotype; Humans; Polymorphism, Single Nucleotide; Risk Factors
- From: Biomedical and Environmental Sciences 2011;24(2):89-93
- CountryChina
- Language:English
-
Abstract:
OBJECTIVEConvincing 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.
METHODSDNA 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.
RESULTSNeither 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).
CONCLUSIONOur study suggests that polymorphism rs3797546 in the BHMT gene may confer genetic risk of NSCL/P in a recessive manner.
