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% CI=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.
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/Ppatients carry the CC genotype compared with the TT+CT genotype (P=0.020, OR=2.10, 95% CI=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.
Authors: Márcia R Amorim; Cláudia M Moura; Aline D Gomes; Hazel N Barboza; Roberta B Lopes; Márcia G Ribeiro; Marcelo A Costa Lima Journal: Mol Biol Rep Date: 2013-05-05 Impact factor: 2.316
Authors: Colleen M Bartman; Jennifer Egelston; Sravya Kattula; Leigh C Zeidner; Anthony D'Ippolito; Bradley W Doble; Christopher J Phiel Journal: Front Endocrinol (Lausanne) Date: 2014-08-13 Impact factor: 5.555