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

共 45 条

[11] Genes in glucose metabolism and association with spina bifida [J].

Davidson, Christina M. ;

Northrup, Hope ;

King, Terri M. ;

Fletcher, Jack M. ;

Townsend, Irene ;

Tyerman, Gayle H. ;

Au, Kit Sing .

REPRODUCTIVE SCIENCES, 2008, 15 (01) :51-58

[12] Spina bifida and folate-related genes: A study of gene-gene interactions [J].

de Franchis, R ;

Botto, LD ;

Sebastio, G ;

Ricci, R ;

Iolascon, A ;

Capra, V ;

Andria, G ;

Mastroiacovo, P .

GENETICS IN MEDICINE, 2002, 4 (03) :126-130

[13] Reduced pteridine derivatives induce apoptosis in PC12 cells [J].

Enzinger, C ;

Wirleitner, B ;

Spöttl, N ;

Böck, G ;

Fuchs, D ;

Baier-Bitterlich, G .

NEUROCHEMISTRY INTERNATIONAL, 2002, 41 (01) :71-78

[14] Metabolic effects and the methylenetetrahydrofolate reductase (MTHFR) polymorphism associated with neural tube defects in southern brazil [J].

Félix, TM ;

Leistner, S ;

Giugliani, R .

BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 2004, 70 (07) :459-463

[15] Maternal Serum Homocysteine and Risk for Neural Tube Defects in a Texas-Mexico Border Population [J].

Felkner, Marilyn ;

Suarez, Lucina ;

Canfield, Mark A. ;

Brender, Jean D. ;

Sun, Qin .

BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 2009, 85 (06) :574-581

[16] Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism [J].

Fredriksen, Ase ;

Meyer, Klaus ;

Ueland, Per Magne ;

Vollset, Stein Emil ;

Grotmol, Tom ;

Schneede, Jorn .

HUMAN MUTATION, 2007, 28 (09) :856-865

[17] Impact of folic acid fortification of the US food supply on the occurrence of neural tube defects [J].

Honein, MA ;

Paulozzi, LJ ;

Mathews, TJ ;

Erickson, JD ;

Wong, LYC .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2001, 285 (23) :2981-2986

[18] New 19 bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR): A risk factor for spina bifida acting in mothers during pregnancy? [J].

Johnson, WG ;

Stenroos, ES ;

Spychala, JR ;

Chatkupt, S ;

Ming, SX ;

Buyske, S .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 124A (04) :339-345

[19] Impact of the MHFR C677T polymorphism on risk of neural tube defects: case-control study [J].

Kirke, PN ;

Mills, JI ;

Molloy, AM ;

Brody, LC ;

O'Leary, VB ;

Daly, L ;

Murray, S ;

Conley, M ;

Mayne, PD ;

Smith, O ;

Scott, JM .

BRITISH MEDICAL JOURNAL, 2004, 328 (7455) :1535-1536

[20] Reconstructing parental genotypes when testing for linkage in the presence of association [J].

Knapp, M .

THEORETICAL POPULATION BIOLOGY, 2001, 60 (03) :141-148

← 1 2 3 4 5 →