Медицинская библиотека · American journal of obstetrics and gynecology · 2009

Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida.

Martinez Carla A, Northrup Hope, Lin Jone-Ing, Morrison Alanna C, Fletcher Jack M, Tyerman Gayle H, Au Kit Sing

СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАПеревод в очереди

Аннотация

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.

Для цитирования: Martinez Carla A, Northrup Hope, Lin Jone-Ing, Morrison Alanna C, Fletcher Jack M, Tyerman Gayle H, Au Kit Sing. Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida.. American journal of obstetrics and gynecology. 2009. DOI: 10.1016/j.ajog.2009.06.042.

Предметные рубрики MeSH

Cystathionine beta-Synthase Folic Acid Genetic Predisposition to Disease Genotype Humans Methylenetetrahydrofolate Reductase (NADPH2)Polymorphism, Single Nucleotide Spinal Dysraphism Tetrahydrofolate Dehydrogenase Thymidylate Synthase

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