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

被引：35

作者：

Martinez, Carla A. ^{[1
]}

Northrup, Hope ^{[2
]}

Lin, Jone-Ing ^{[3
]}

Morrison, Alanna C. ^{[3
]}

Fletcher, Jack M. ^{[4
]}

Tyerman, Gayle H. ^{[5
]}

Au, Kit Sing ^{[2
]}

机构：

[1] Univ Texas Hlth Sci Ctr Houston, Dept Obstet Gynecol & Reprod Sci, Houston, TX USA

[2] Univ Texas Hlth Sci Ctr Houston, Dept Pediat, Houston, TX USA

[3] Univ Texas Houston, Sch Publ Hlth, Ctr Human Genet, Houston, TX USA

[4] Univ Texas Houston, Med Ctr Annex, Dept Psychol, Houston, TX USA

[5] Shriners Hosp Children, Dept Pediat, Los Angeles, CA USA

来源：

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY | 2009年 / 201卷 / 04期

关键词：

folate/homocysteine metabolism genes; single nucleotide polymorphism; spina bifida; NEURAL-TUBE DEFECTS; DIHYDROFOLATE-REDUCTASE DHFR; DERIVATIVES INDUCE APOPTOSIS; CYSTATHIONINE BETA-SYNTHASE; 19 BP DELETION; METHYLENETETRAHYDROFOLATE REDUCTASE; RISK-FACTOR; FOLIC-ACID; HOMOCYSTEINE; POPULATION;

D O I：

10.1016/j.ajog.2009.06.042

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

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.

引用

页码：394.e1 / 394.e11

页数：11

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