Literature DB >> 12730722

Analysis of the MTHFR 1298A-->C and 677C-->T polymorphisms as risk factors for neural tube defects.

Anne Parle-McDermott1, James L Mills, Peadar N Kirke, Valerie B O'Leary, Deborah A Swanson, Faith Pangilinan, Mary Conley, Anne M Molloy, Christopher Cox, John M Scott, Lawrence C Brody.   

Abstract

The thermolabile variant (677TT) of methylenetetrahydrofolate reductase (MTHFR) is a known risk factor for neural tube defects (NTDs). The relationship between a second MTHFR polymorphism (1298A-->C) and NTD risk has been inconsistent between studies. We genotyped 276 complete NTD triads (mother, father and child affected with an NTD) and 256 controls for MTHFR 1298A-->C. Our findings do not support a role for the 1298A-->C polymorphism in NTDs (OR 0.85 (95% CI 0.49-1.47), p= 0.55), nor do we observe a combined effect with the 677C-->T polymorphism.

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Year:  2003        PMID： 12730722     DOI： 10.1007/s10038-003-0008-4

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


  18 in total

1.  A log-linear approach to case-parent-triad data: assessing effects of disease genes that act either directly or through maternal effects and that may be subject to parental imprinting.

Authors:  C R Weinberg; A J Wilcox; R T Lie
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

2.  The "thermolabile" variant of methylenetetrahydrofolate reductase and neural tube defects: An evaluation of genetic risk and the relative importance of the genotypes of the embryo and the mother.

Authors:  D C Shields; P N Kirke; J L Mills; D Ramsbottom; A M Molloy; H Burke; D G Weir; J M Scott; A S Whitehead
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

3.  Effects of common polymorphisms on the properties of recombinant human methylenetetrahydrofolate reductase.

Authors:  K Yamada; Z Chen; R Rozen; R G Matthews
Journal:  Proc Natl Acad Sci U S A       Date:  2001-12-11       Impact factor: 11.205

4.  Analysis of select folate pathway genes, PAX3, and human T in a Midwestern neural tube defect population.

Authors:  D Trembath; A L Sherbondy; D C Vandyke; G M Shaw; K Todoroff; E J Lammer; R H Finnell; S Marker; G Lerner; J C Murray
Journal:  Teratology       Date:  1999-05

5.  Linkage disequilibrium of MTHFR genotypes 677C/T-1298A/C in the German population and association studies in probands with neural tube defects(NTD).

Authors:  K Stegmann; A Ziegler; E T Ngo; N Kohlschmidt; B Schröter; A Ermert; M C Koch
Journal:  Am J Med Genet       Date:  1999-11-05

6.  Methylenetetrahydrofolate reductase and spina bifida: evaluation of level of defect and maternal genotypic risk in Hispanics.

Authors:  K A Volcik; S H Blanton; G H Tyerman; S T Jong; E J Rott; T Z Page; N K Romaine; H Northrup
Journal:  Am J Med Genet       Date:  2000-11-06

7.  Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM).

Authors:  R S Spielman; R E McGinnis; W J Ewens
Journal:  Am J Hum Genet       Date:  1993-03       Impact factor: 11.025

8.  Maternal plasma folate and vitamin B12 are independent risk factors for neural tube defects.

Authors:  P N Kirke; A M Molloy; L E Daly; H Burke; D G Weir; J M Scott
Journal:  Q J Med       Date:  1993-11

9.  Low blood folates in NTD pregnancies are only partly explained by thermolabile 5,10-methylenetetrahydrofolate reductase: low folate status alone may be the critical factor.

Authors:  A M Molloy; J L Mills; P N Kirke; D Ramsbottom; J M McPartlin; H Burke; M Conley; A S Whitehead; D G Weir; J M Scott
Journal:  Am J Med Genet       Date:  1998-06-30

10.  Loss of heterozygosity at the 5,10-methylenetetrahydrofolate reductase locus in human ovarian carcinomas.

Authors:  A Viel; L Dall'Agnese; F Simone; V Canzonieri; E Capozzi; M C Visentin; R Valle; M Boiocchi
Journal:  Br J Cancer       Date:  1997       Impact factor: 7.640
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  14 in total

1.  Congenital heart defects and genetic variants in the methylenetetrahydroflate reductase gene.

Authors:  C A Hobbs; S J James; A Parsian; P A Krakowiak; S Jernigan; J J Greenhaw; Y Lu; M A Cleves
Journal:  J Med Genet       Date:  2005-06-10       Impact factor: 6.318

2.  Testing for genetic association with constrained models using triads.

Authors:  J F Troendle; K F Yu; J L Mills
Journal:  Ann Hum Genet       Date:  2009-01-28       Impact factor: 1.670

Review 3.  The search for genetic polymorphisms in the homocysteine/folate pathway that contribute to the etiology of human neural tube defects.

Authors:  Anne M Molloy; Lawrence C Brody; James L Mills; John M Scott; Peadar N Kirke
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2009-04

4.  Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate.

Authors:  James L Mills; Anne M Molloy; Anne Parle-McDermott; James F Troendle; Lawrence C Brody; Mary R Conley; Christopher Cox; Faith Pangilinan; David J A Orr; Michael Earley; Eamon McKiernan; Ena C Lynn; Anne Doyle; John M Scott; Peadar N Kirke
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2008-09

5.  Variants in maternal COMT and MTHFR genes and risk of neural tube defects in offspring.

Authors:  Jufen Liu; Yali Zhang; Lei Jin; Guoxing Li; Linlin Wang; Yanping Bao; Yunting Fu; Zhiwen Li; Le Zhang; Rongwei Ye; Aiguo Ren
Journal:  Metab Brain Dis       Date:  2014-07-04       Impact factor: 3.584

6.  Testing reported associations of genetic risk factors for oral clefts in a large Irish study population.

Authors:  Tonia C Carter; Anne M Molloy; Faith Pangilinan; James F Troendle; Peadar N Kirke; Mary R Conley; David J A Orr; Michael Earley; Eamon McKiernan; Ena C Lynn; Anne Doyle; John M Scott; Lawrence C Brody; James L Mills
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2010-02

Review 7.  "Polymorphisms in folate metabolism genes as maternal risk factor for neural tube defects: an updated meta-analysis".

Authors:  Upendra Yadav; Pradeep Kumar; Sushil Kumar Yadav; Om Prakash Mishra; Vandana Rai
Journal:  Metab Brain Dis       Date:  2014-07-09       Impact factor: 3.584

8.  Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population.

Authors:  Tonia C Carter; Faith Pangilinan; James F Troendle; Anne M Molloy; Julia VanderMeer; Adam Mitchell; Peadar N Kirke; Mary R Conley; Barry Shane; John M Scott; Lawrence C Brody; James L Mills
Journal:  Am J Med Genet A       Date:  2010-12-10       Impact factor: 2.802

9.  Association of the maternal MTHFR C677T polymorphism with susceptibility to neural tube defects in offsprings: evidence from 25 case-control studies.

Authors:  Lifeng Yan; Lin Zhao; Yan Long; Peng Zou; Guixiang Ji; Aihua Gu; Peng Zhao
Journal:  PLoS One       Date:  2012-10-03       Impact factor: 3.240

10.  Genetic variants in the folate pathway and the risk of neural tube defects: a meta-analysis of the published literature.

Authors:  Ti Zhang; Jiao Lou; Rong Zhong; Jing Wu; Li Zou; Yu Sun; Xuzai Lu; Li Liu; Xiaoping Miao; Guanglian Xiong
Journal:  PLoS One       Date:  2013-04-04       Impact factor: 3.240
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