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BHMT gene polymorphisms as risk factors for cleft lip and cleft palate in a Chinese population

Ying Hu1, Erjun Chen, Yue Mu

  • 1Beijing Stomatological Hospital, Capital Medical University, Beijing 100050, China. huying_369@yahoo.com.cn

Biomedical and Environmental Sciences : BES
|May 14, 2011
PubMed

Insights

Genetic variations in the betaine-homocysteine methyltransferase (BHMT) gene may increase the risk of nonsyndromic cleft lip with or without cleft palate (NSCL/P). Specifically, the BHMT rs3797546 polymorphism is associated with NSCL/P in a recessive manner.

Area of Science:

  • Genetics
  • Developmental Biology
  • Public Health

Background:

  • Maternal folic acid intake is linked to nonsyndromic cleft lip with or without cleft palate (NSCL/P) risk.
  • Genetic factors may also play a role in NSCL/P etiology.

Purpose of the Study:

  • To investigate the association between genetic variations in the betaine-homocysteine methyltransferase (BHMT) gene and NSCL/P.
  • To explore the role of specific BHMT single nucleotide polymorphisms (SNPs) in NSCL/P susceptibility.

Main Methods:

  • Genotyping of three BHMT SNPs (rs651852, rs3797546, rs3733890) using real-time PCR.
  • Case-control study involving 166 NSCL/P patients and 285 healthy controls.

Main Results:

  • No significant association was found for BHMT SNPs rs651852 and rs3733890 with NSCL/P.
  • The CC genotype of BHMT SNP rs3797546 showed a higher prevalence in NSCL/P patients compared to TT+CT genotypes (P=0.020, OR=2.10).

Conclusions:

  • The BHMT gene polymorphism rs3797546 may confer a genetic risk for NSCL/P.
  • This association appears to be recessive, suggesting a potential genetic predisposition to NSCL/P.
Abstract

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