Dataset Information
Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida.
Ontology highlight
ABSTRACT: Objective
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.Study design
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.Results
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).Conclusion
Transmission disequilibrium of SNP alleles in cystathionine-beta-synthase, dihydrofolate reductase, methylenetetrahydrofolate reductase, and thymidylate synthetase confers an increased susceptibility to SB.
SUBMITTER: Martinez CA
PROVIDER: S-EPMC2790326 | biostudies-literature | 2009 Oct
REPOSITORIES: biostudies-literature
Publications
Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida.
American journal of obstetrics and gynecology 20090815 4
<h4>Objective</h4>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.<h4>Study design</h4>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 recons ...[more]