1.The effect of recombined BHMT on the Hhcy rat.
Dan YI ; Shu-Qing WU ; Da XU
Chinese Journal of Applied Physiology 2004;20(4):323-370
2.BHMT gene polymorphisms as risk factors for cleft lip and cleft palate in a Chinese population.
Ying HU ; Erjun CHEN ; Yue MU ; Jinlu LI ; Renji CHEN
Biomedical and Environmental Sciences 2011;24(2):89-93
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.
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
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