Association between MTHFD1 G1958A polymorphism and neural tube defects susceptibility: A meta-analysis

PLoS ONE

Volumn 9, Issue 6, 2014, Pages

  Jiang, Jianxin ^a   Zhang, Yanfei ^a   Wei, Liang ^a   Sun, Zhiyang ^a   Liu, Zhongmin ^a  

^a TONGJI UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

[No Author keywords available]

Indexed keywords

METHYLENETETRAHYDROFOLATE DEHYDROGENASE; MTHFD1 PROTEIN, HUMAN;

ARTICLE; CAUCASIAN; CHILD; CONTROLLED STUDY; FAMILY ASSESSMENT; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MTHFD1 GENE; NEURAL TUBE DEFECT; NEUROPATHOLOGY; PROGENY; RISK ASSESSMENT; SINGLE STRAND CONFORMATION POLYMORPHISM; ALLELE; ENZYMOLOGY; GENETIC PREDISPOSITION; GENETICS; META ANALYSIS; RISK; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; METHYLENETETRAHYDROFOLATE DEHYDROGENASE (NADP); NEURAL TUBE DEFECTS; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 84903618332     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0101169     Document Type: Article

References (44)

1. Ouyang S, Liu Z, Li Y, Ma F, Wu J (2014) Cystathionine beta-synthase 844ins68 polymorphism is unrelated to susceptibility to neural tube defects. Gene 535: 119-123.
2. Busby A, Abramsky L, Dolk H, Armstrong B, Addor MC, et al. (2005) Preventing neural tube defects in Europe: a missed opportunity. Reprod Toxicol 20: 393-402.
3. Chen X, Guo J, Lei Y, Zou J, Lu X, et al. (2010) Global DNA hypomethylation is associated with NTD-affected pregnancy: A case-control study. Birth Defects Res A Clin Mol Teratol 88: 575-581.
4. Smithells RW, Sheppard S, Schorah CJ (1976) Vitamin dificiencies and neural tube defects. Arch Dis Child 51: 944-950.
5. Czeizel AE, Dudas I (1992) Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med 327: 1832-1835.
6. van der Put NM, Steegers-Theunissen RP, Frosst P, Trijbels FJ, Eskes TK, et al. (1995) Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 346: 1070-1071.
7. Botto LD, Yang Q (2000) 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol 151: 862-877.
8. Junker R, Kotthoff S, Vielhaber H, Halimeh S, Kosch A, et al. (2001) Infant methylenetetrahydrofolate reductase 677TT genotype is a risk factor for congenital heart disease. Cardiovasc Res 51: 251-254.
9. Houcher B, Bourouba R, Djabi F, Yilmaz E, Egin Y, et al. (2009) Polymorphisms of 5,10-methylenetetrahydrofolate reductase and cystathionine beta-synthase genes as a risk factor for neural tube defects in Setif, Algeria. Pediatr Neurosurg 45: 472-477.
10. Deb R, Arora J, Meitei SY, Gupta S, Verma V, et al. (2011) Folate supplementation, MTHFR gene polymorphism and neural tube defects: a community based case control study in North India. Metab Brain Dis 26: 241-246.
11. Yan L, Zhao L, Long Y, Zou P, Ji G, et al. (2012) Association of the maternal MTHFR C677T polymorphism with susceptibility to neural tube defects in offsprings: evidence from 25 case-control studies. PLoS One 7: e41689.
12. Shields DC, Kirke PN, Mills JL, Ramsbottom D, Molloy AM, et al. (1999) 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. Am J Hum Genet 64: 1045-1055.
13. Hum DW, Bell AW, Rozen R, MacKenzie RE (1988) Primary structure of a human trifunctional enzyme. Isolation of a cDNA encoding methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase. J Biol Chem 263: 15946-15950.
14. Barlowe CK, Appling DR (1990) Molecular genetic analysis of Saccharomyces cerevisiae C1-tetrahydrofolate synthase mutants reveals a noncatalytic function of the ADE3 gene product and an additional folate-dependent enzyme. Mol Cell Biol 10: 5679-5687.
15. Hol FA, van der Put NM, Geurds MP, Heil SG, Trijbels FJ, et al. (1998) Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolatecyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects. Clin Genet 53: 119-125.
16. Brody LC, Conley M, Cox C, Kirke PN, McKeever MP, et al. (2002) A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group. Am J Hum Genet 71: 1207-1215.
17. Parle-McDermott A, Kirke PN, Mills JL, Molloy AM, Cox C, et al. (2006) Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population. Eur J Hum Genet 14: 768-772.
18. De Marco P, Merello E, Calevo MG, Mascelli S, Raso A, et al. (2006) Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk. J Hum Genet 51: 98-103.
19. van der Linden IJ, Heil SG, Kouwenberg IC, den Heijer M, Blom HJ (2007) The methylenetetrahydrofolate dehydrogenase (MTHFD1) 1958G>A variant is not associated with spina bifida risk in the Dutch population. Clin Genet 72: 599-600.
20. Stang A (2010) Critical evaluation of the Newcastle-Ottawa scale for the assessment of the quality of nonrandomized studies in meta-analyses. Eur J Epidemiol 25: 603-605.
21. Higgins JP, Thompson SG (2002) Quantifying heterogeneity in a meta-analysis. Stat Med 21: 1539-1558.
22. Jackson D, White IR, Riley RD (2012) Quantifying the impact of between-study heterogeneity in multivariate meta-analyses. Stat Med 31: 3805-3820.
23. Egger M, Davey Smith G, Schneider M, Minder C (1997) Bias in meta-analysis detected by a simple, graphical test. BMJ 315: 629-634.
24. Peters JL, Sutton AJ, Jones DR, Abrams KR, Rushton L (2006) Comparison of two methods to detect publication bias in meta-analysis. JAMA 295: 676-680.
25. Sacks HS, Berrier J, Reitman D, Ancona-Berk VA, Chalmers TC (1987) Meta-analyses of randomized controlled trials. N Engl J Med 316: 450-455.
26. Etheredge AJ, Finnell RH, Carmichael SL, Lammer EJ, Zhu H, et al. (2012) Maternal and infant gene-folate interactions and the risk of neural tube defects. Am J Med Genet A 158A: 2439-2446.
27. Pangilinan F, Molloy AM, Mills JL, Troendle JF, Parle-McDermott A, et al. (2012) Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects. BMC Med Genet 13: 62.
28. Liu J, Qi J, Yu X, Zhu J, Zhang L, et al. (2014) Investigations of single nucleotide polymorphisms in folate pathway genes in Chinese families with neural tube defects. J Neurol Sci 337: 61-66.
29. Carroll N, Pangilinan F, Molloy AM, Troendle J, Mills JL, et al. (2009) Analysis of the MTHFD1 promoter and risk of neural tube defects. Hum Genet 125: 247-256.
30. Shaw GM, Lu W, Zhu H, Yang W, Briggs FB, et al. (2009) 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects. BMC Med Genet 10: 49.
31. Marini NJ, Hoffmann TJ, Lammer EJ, Hardin J, Lazaruk K, et al. (2011) A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis. PLoS One 6: e28408.
32. Fisk Green R, Byrne J, Crider KS, Gallagher M, Koontz D, et al. (2013) Folate-related gene variants in Irish families affected by neural tube defects. Front Genet 4: 223.
33. Wolff T, Witkop CT, Miller T, Syed SB (2009) Folic acid supplementation for the prevention of neural tube defects: an update of the evidence for the U.S. Preventive Services Task Force. Ann Intern Med 150: 632-639.
34. Christensen KE, Rohlicek CV, Andelfinger GU, Michaud J, Bigras JL, et al. (2009) The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects. Hum Mutat 30: 212-220.
35. Mostowska A, Hozyasz KK, Wojcicki P, Dziegelewska M, Jagodzinski PP (2010) Associations of folate and choline metabolism gene polymorphisms with orofacial clefts. J Med Genet 47: 809-815.
36. Bhaskar LV, Murthy J, Venkatesh Babu G (2011) Polymorphisms in genes involved in folate metabolism and orofacial clefts. Arch Oral Biol 56: 723-737.
37. Amorim MR, Lima MA, Castilla EE, Orioli IM (2007) Non-Latin European descent could be a requirement for association of NTDs and MTHFR variant 677C>T: a meta-analysis. Am J Med Genet A 143A: 1726-1732.
38. Wang XW, Luo YL, Wang W, Zhang Y, Chen Q, et al. (2012) Association between MTHFR A1298C polymorphism and neural tube defect susceptibility: a metaanalysis. Am J Obstet Gynecol 206: 251 e251-257.
39. Zhang T, Lou J, Zhong R, Wu J, Zou L, et al. (2013) Genetic variants in the folate pathway and the risk of neural tube defects: a meta-analysis of the published literature. PLoS One 8: e59570.
40. van der Linden IJ, den Heijer M, Afman LA, Gellekink H, Vermeulen SH, et al. (2006) The methionine synthase reductase 66A>G polymorphism is a maternal risk factor for spina bifida. J Mol Med (Berl) 84: 1047-1054.
41. Yang M, Yang L, Qi L, Guo Y, Lin X, et al. (2013) Association between the methionine synthase A2756G polymorphism and neural tube defect risk: a meta-analysis. Gene 520: 7-13.
42. Wang HG, Wang JL, Zhang J, Zhao LX, Zhai GX, et al. (2012) Reduced folate carrier A80G polymorphism and susceptibility to neural tube defects: a meta-analysis. Gene 510: 180-184.
43. Parle-McDermott A, Mills JL, Kirke PN, Cox C, Signore CC, et al. (2005) MTHFD1 R653Q polymorphism is a maternal genetic risk factor for severe abruptio placentae. Am J Med Genet A 132: 365-368.
44. Parle-McDermott A, Pangilinan F, Mills JL, Signore CC, Molloy AM, et al. (2005) A polymorphism in the MTHFD1 gene increases a mother's risk of having an unexplained second trimester pregnancy loss. Mol Hum Reprod 11: 477-480.