Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida.
case_control · Level III
Where this comes from
- Record sourced from PubMed, PMID 19683694.
- Also identified by DOI 10.1016/j.ajog.2009.06.042 and PMC identifier 2790326.
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Abstract
We tested putative functional single nucleotide polymorphisms (SNPs) in genes that regulate the folate/homocysteine metabolism pathway for their contribution to spina bifida (SB) susceptibility. The study consisted of 610 unrelated simplex SB patient families. Genotypes of 46 SNPs located in the coding sequence or promoter region of 11 genes were investigated. Associations between transmission of alleles and SB in the offspring were examined using the reconstruction combined transmission disequilibrium test. Significant association of SNP rs5742905 in cystathionine-beta-synthase, rs1643649 in dihydrofolate reductase, rs2853533 in thymidylate synthetase, and rs3737965 in methylenetetrahydrofolate reductase was found (P = .015, .041, .021, and .007 respectively). Transmission disequilibrium of SNP alleles in cystathionine-beta-synthase, dihydrofolate reductase, methylenetetrahydrofolate reductase, and thymidylate synthetase confers an increased susceptibility to SB.
Medical subject headings
- Folic Acid
- Genetic Predisposition to Disease
- Polymorphism, Single Nucleotide
- Spinal Dysraphism