title: BHMT gene polymorphisms as risk factors for cleft lip and cleft palate in a Chinese population.
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% CI=1.11-3.95).
  
  
  CONCLUSIONS
  Our study suggests that polymorphism rs3797546 in the BHMT gene may confer genetic risk of NSCL/P in a recessive manner.
authors.affiliation: Beijing Stomatological Hospital, Capital Medical University, Beijing 100050, China. huying_369@yahoo.com.cn
authors.forename: Ying
authors.initials: Y
authors.lastname: Hu
authors.forename: Erjun
authors.initials: E
authors.lastname: Chen
authors.forename: Yue
authors.initials: Y
authors.lastname: Mu
authors.forename: Jinlu
authors.initials: J
authors.lastname: Li
authors.forename: Renji
authors.initials: R
authors.lastname: Chen
mesh_terms: D044466:Asian People / Q000235:genetics*; D050940:Betaine-Homocysteine S-Methyltransferase / Q000235:genetics / Q000378:metabolism*; D016022:Case-Control Studies; D002681:China; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: C494548:BHMT protein, human; D050940:Betaine-Homocysteine S-Methyltransferase