Maternal methylenetetrahydrofolate reductase C677T polymorphism and down syndrome risk: A Meta-analysis from 34 studies

PLoS ONE

Volumn 9, Issue 9, 2014, Pages

  Rai, Vandana ^a   Yadav, Upendra ^a   Kumar, Pradeep ^a   Yadav, Sushil Kumar ^a   Mishra, Om Prakesh ^b  

^a VEER BAHADUR SINGH PURVANCHAL UNIVERSITY   (India)

^b BANARAS HINDU UNIVERSITY   (India)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2);

ARTICLE; CASE CONTROL STUDY; DISEASE ASSOCIATION; DOWN SYNDROME; GENE FREQUENCY; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MTHFR GENE; RISK ASSESSMENT; RISK FACTOR; SYSTEMATIC REVIEW; FEMALE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; META ANALYSIS; PREGNANCY; RISK; SINGLE NUCLEOTIDE POLYMORPHISM;

DOWN SYNDROME; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; RISK; RISK FACTORS;

EID: 84907484144     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0108552     Document Type: Article

References (69)

1. Rai AK, Singh S, Mehta S, Kumar A, Pandey LK, et al. (2006) MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers. J Hum Genet 51: 278-283
2. Tayeb MT (2012) The methylenetetrahydrofolate reductase gene variant (C677T) in risk mothers with Down syndrome among Saudi population. Egyptian J Med Hum Genet 13(3): 263-268
3. James SJ, Pogribna M, Pogribny IP, Melnyk S, Hine RJ, et al. (1999) Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome. Am J Clin Nutr 70: 495-50
4. Wang SS, Qiao F, Feng L, Juan-Juan LV (2008) Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome in China. J Zhejiang Univ Sci B 9(2): 93-99
5. Kaur A, Kaur A (2013) Prevalence of methylenetetrahydrofolate reductase 677 C-T polymorphism among mothers of Down syndrome children. Indian J Hum Genet 19(4): 412-414
6. Hobbs CA, Sherman SI, Yi P, Torfs CP, Hine RJ, et al. (2000) Polymorphism in genes involved in folate metabolism as maternal risk factors for Down syndrome. Am J Hum Genet 67: 623-630
7. Scala I, Granese B, Sellitto M, Salome S, Sammartino A, et al. (2006) Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring. Genet Med 8: 409-416
8. Božović IB, Vraneković J, Cizmarević NS, Mahulja-Stamenković V, Prpić I, et al. (2011) MTHFR C677T and A1298C polymorphisms as a risk factor for congenital heart defects in Down syndrome. Pediatr Int 53(4): 546-550.
9. James SJ, Melnyk S, Pogribna M, Pogribny IP, Caudill MA (2002) Elevation in S-adenosylhomocysteine and DNA hypomethylation: potential epigenetic mechanism for homocysteine-related pathology. J Nutr 132(8 Suppl): 2361S- 2366S
10. Pogribny IP, James SJ, Jernigan S, Pogribna M (2004) Genomic hypomethylation is specific for preneoplastic liver in folate/methyl deficient rats and does not occur in non-target tissues. Mutat Res. 548(1-2): 53-59
11. Pogribna M, Melnyk S, Pogribny I, Chango A, Yi P, et al. (2001) Homocysteine metabolism in children with Down syndrome: In vitro modulation. Am J Hum Genet 69: 88-95
12. Parry EM, Parry JM, Corso C, Doherty A, Haddad F, et al. (2002) Detection and characterization of mechanisms of action of aneugenic chemicals. Mutagenesis. 17(6): 509-521
13. Pozzi E, Vergani P, Dalpra' L, Combi R, Silvestri D, et al. (2009) Maternal polymorphisms for methyltetrahydrofolate reductase and methionine synthetase reductase and risk of children with Down syndrome. Am J Obstet Gynecol 63: e1-e6
14. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, et al. (1995) A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase. Nat Genet 10: 111-113
15. Bagley PJ, Selhub J (1998) A common mutation in the methylenetetrahydrofolate reductase gene is associated with an accumulation of formylated tetrahydrofolates in red blood cells. Proc Natl Acad Sci USA 95(22): 13217-13220
16. Brattström L, Wilcken DE, Ohrvik J, Brudin L (1998) Common methylenetetrahydrofolate reductase gene mutation leads to hyperhomocysteinemia but not to vascular disease: The result of a meta-analysis. Circulation 98(23): 2520-2526
17. van der Put NM, Eskes TK, Blom HJ (1997) Is the common 677CT mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? A meta-analysis. Q J Med 90: 111-115
18. Blanton SH, Henry RR, Yuan Q, Mulliken JB, Stal S, et al. (2011) Folate pathway and nonsyndromic cleft lip and palate. Birth Defects Res A Clin Mol Teratol 91: 50-60
19. Hua Y, Zhao H, Kong Y, Ye M (2011) Association between the MTHFR gene and Alzheimer's disease: A meta-analysis. Int J Neurosci 121(8): 462-71
20. Benes P, Kankova K, Muzik J, Groch L, Benedik J et al. (2001) Methylenetetrahydrofolate reductase polymorphism, typeII diabetes mellitus, coronary artery disease, and essential hypertension in the Czech population. Mol Genet Metab 73: 188-195
21. Jönsson EG, Larsson K, Vares M, Hansen T, Wang AG, et al. (2008) Two methylenetetrahydrofolate reductase gene (MTHFR) polymorphisms, schizophrenia and bipolar disorder: An association study. Am J Med Genet B Neuropsychiatr Genet 147B: 976-982
22. DerSimonian R, Laird N (1986) Meta-analysis in clinical trials. Controlled Clinical Trials. 7: 177-188
23. Mantel N, Haenszel W (1959) Statistical aspects of the analysis of data from retrospective studies of disease. J Natl Cancer Inst 22: 719-748
24. Bax L, Yu LM, Ikeda N, Tsuruta H, Moons KG (2006) Development and validation of MIX: comprehensive free software for meta-analysis of causal research data. BMC Med Res Methodol. 2006;6: 50
25. Clark MF, Baudouin SV (2006) A systematic review of the quality of genetic association studies in human sepsis. Intensive Care Med 32(11): 1706-1712
26. Begg CB, Mazumdar M (1994) Operating characteristics of a rank correlation test for publication bias. Biometrics 50(4): 1088-1101
27. Egger M, Davey Smith G, Schneider M, Minder C (1997) Bias in meta-analysis detected by a simple, graphical test. BMJ 315: 629-634
28. Acácio GL, Barini R, Bertuzzo CS, Couto EC, Annichino-Bizzacchi JM, et al. (2005) Methylenetetrahydrofolate reductase gene polymorphisms and their association with trisomy 21. Prenat Diagn 25: 1196-1199
29. da Silva LRJ, Vergani N, Galdieri LC, Porto MPR, Longhitano SB, et al. (2005) Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil. Am J Med Genet Part A 135A: 263-267
30. Biselli JM, Goloni-Bertollo EM, Zampieri BL, Haddad R, Eberlin MN, et al. (2008) Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: maternal risk factors for Down syndrome in Brazil. Genet Mol Res 7: 33-42
31. Santos-Reboucas CB, Corre'a JC, Bonomo A, Fintelman-Rodrigues N, Moura KC, et al. (2008) The impact of folate pathway polymorphisms combined to nutritional deficiency as a maternal predisposition factor for Down syndrome. Dis Markers 25: 149-157
32. Brandalize AP, Bandinelli E, dos Santos PA, Roisenberg I, Schüler-Faccini L (2009) Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and Congenital heart defects. Am J Med Genet 149A (10): 2080-2087
33. Zampieri BL, Biselli JM, Goloni-Bertollo EM, Vannucchi H, Carvalho VM, et al. (2012) Maternal risk for Down syndrome is modulated by genes involved in folate metabolism. Dis Markers 32(2): 73-81
34. Liang X, Feng Z, Lan-Fang Z, Guo XX, Xiao GF, et al. (2005) Analysis of Down syndrome screening and antenatal diagnosis of 3195 cases in the middle period of pregnancy. China J Modern Medicine 20: 011
35. Wang W, Xie W, Wang X (2007) The relationship between polymorphism of gene involved in folate metabolism, homocysteine level and risk of Down syndrome. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24: 533-537
36. Liao YP, Bao MS, Liu CQ, Liu H, Zhang D (2010) Folate gene polymorphism and the risk of Down syndrome pregnancies in young Chinese women. Yi Chuan 32(5): 461-466
37. Vranekovic' J, Babic' Bozovic' I, Starcevic' Cizmarevic' N, Buretic'- Tomljanovic' A, Ristic' S, et al. (2010) Functional inference of methylenetetrahydrofolate reductase gene polymorphisms on enzyme stability as a potential risk factor for Down syndrome in Croatia. Dis Markers 28: 293-298
38. Meguid NA, Dardir AA, Khass M, Hossieny LE, Ezzat A, et al. (2008) MTHFR genetic polymorphism as a risk factor in Egyptian mothers with Down syndrome children. Dis Markers 24: 19-26
39. Elsayed GM, Elsayed SM, Ezz-Elarab SS (2013) Maternal MTHFR C677T genotype and septal defects in offspring with Down syndrome: A pilot study. The Egyptian J Med Hum Genet 15(1): 39-44
40. Chadefaux-Vekemans B, Coude M, Muller F, Oury JF, Chabli A, et al. (2002) Methylenetetrahydrofolate reductase polymorphism in the etiology of Down syndrome. Pediatr Res 51: 766-767
41. Kohli U, Arora S, Kabra M, Ramakrishnan L, Gulati S, et al. (2008) Prevalence of MTHFR 677C.T polymorphism in north Indian mothers having babies with Trisomy 21 Down syndrome. Downs Syndr Res Pract 12: 133-137
42. Cyril C, Rai P, Chandra N, Gopinath PM, Satyamoorthy K (2009) MTHFR gene variants C677T A1298C and association with Down syndrome: A case- control study from South India. Indian J Hum Genet 15: 60-64
43. Pandey SK, Mohanty PK, Polipalli SK, Kapoor S (2013) Genetic polymorphisms of MTHFR (677T and 1298C) and homocysteine metabolism as maternal risk factor for Down's syndrome patients in north indian population. Int J Pharm Bio Sci; 4(2):(B)249-256
44. O'Leary VB, Parle-McDermott A, Molloy AM, Kirke PN, Johnson Z, et al. (2002) MTRR and MTHFR polymorphism: link to Down syndrome? Am J Med Genet A 107: 151-155
45. Stuppia L, Gatta V, Gaspari AR, Antonucci I, Morizio E, et al. (2002) C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy. Eur J Hum Genet 10: 388-390
46. Coppedè F, Marini G, Bargagna S, Stuppia L, Minichilli F, et al. (2006) Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women. Am J Med Genet A 140(10): 1083-1091.
47. Coppede' F, Migheli F, Bargagna S, Siciliano G, Antonucci I, et al. (2009) Association of maternal polymorphisms in folate metabolizing genes with chromosome damage and risk of Down syndrome offspring. Neurosci Lett 449: 15-19
48. Coppedè F, Grossi E, Migheli F, Migliore L (2010) Polymorphisms in folatemetabolizing genes, chromosome damage, and risk of Down syndrome in Italian women: Identification of key factors using artificial neural networks. BMC Med Genomics 3: 42
49. Sadiq MF, Al-Refai EA, Al-Nasser A, Khassawneh M, Al-Batayneh Q (2011) Methylenetetrahydrofolate reductase polymorphisms C677T and A1298C as maternal risk factors for Down syndrome in Jordan. Genet Test Mol Biomarker 15: 1-7
50. Kokotas H, Grigoriadou M, Mikkelsen M, Giannoulia-Karantana A, Petersen MB (2009) Investigating the impact of the Down syndrome related common MTHFR 677C[T polymorphism in the Danish population. Dis Markers 27: 279-285
51. Martínez-Frías ML (2008) The biochemical structure and function of methylenetetrahydrofolate reductase provide the rationale to interpret the epidemiological results on the risk for infants with Down syndrome. Am J Med Genet A 146A(11): 1477-1482
52. Boduroʇlu K, Alanay Y, Koldan B, Tunçbilek E (2004) Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women. Am J Med Genet 127A: 5-10
53. Balaghi M, Wagner C (1993) DNA methylation in folate deficiency: use of CpG methylase. Biochemical and Biophysical Research Communications 193: 1184-1190
54. Fenech M (2001) The role of folic acid and Vitamin B12 in genomic stability of human cells. Mutat Res 475: 57-67
55. Libbus BL, Borman LS, Ventrone CH, Branda RF (1990) Nutritional folate deficiency in CHO cells: chromosomal abnormalities associated with perturbations in nucleic acid precursors. Cancer Genet Cytogenet 46: 231-242
56. Leyton BL, Mergudich D, del la Torre D, Sans J (1995) Impaired chromosome segregation in plant anaphase alter moderate hypomethylation of DNA. Cell Prolif 28: 481-496
57. Pogribny IP, Basnakian AG, Miller BJ, Lopatina NG, Poirier LA, et al. (1995) Breaks in genomic DNA and within the p53 gene are associated with hypomethylation in livers of folate/methyl-deficient rats. Cancer Res 55(9): 1894-1901
58. Chen RZ, Pettersson U, Beared C, Jackson-Grusby I, Jaenisch R (1998) DNA hypomethylation leads to elevated mutation rates. Nature 395: 89-93
59. Titenko-Holland N, Jacob RA, Shang N, Balaraman A, Smith MT (1998) Micronuclei in lymphocytes and exfoliated buccal cells of postmenopausal women with dietary changes in folate. Mutat Res 417: 101-114
60. Botto LD, Yang Q (2000) 5, 10-methylenetetrahydrofolate reductase variants and congenital anomalies: A huge review. Am J Epidemiol 151: 862-877
61. 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
62. Yadav U, Kumar P, Yadav SK, Mishra OP, Rai V (2014) Polymorphisms in folate metabolism genes as maternal risk factor for Neural Tube Defects: An updated meta-analysis. Metab Brain Dis. [Ahead of Print; DOI: 10.1007/ s11011-014-9575-7]
63. Zhao M, Ren Y, Shen L, Zhang Y, Zhou B (2014) Association between MTHFR C677T and A1298C Polymorphisms and NSCL/P Risk in Asians: A Meta-Analysis. Plos One 9(3): e88242
64. Yadav S, Hasan N, Marjot T, Khan MS, Prasad K, et al. (2013) Detailed Analysis of Gene Polymorphisms Associated with Ischemic Stroke in South Asians. PLos One 8: e57305
65. Peerbooms OL, van Os J, Drukker M, Kenis G, Hoogveld L, et al. (2011) Metaanalysis of MTHFR gene variants in schizophrenia, bipolar disorder and unipolar depressive disorder: evidence for a common genetic vulnerability? Brain Behav Immun 25(8): 1530-1543
66. Zintzaras E (2007) Maternal gene polymorphisms involved in folate metabolism and risk of Down syndrome offspring: A meta analysis. J Hum Genet 52: 943-953
67. Medica I, Maver A, Augusto GF, Peterlin B (2009) Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome- metaanalysis. Cent Eur J Med 4: 395-408
68. Wu X, Wang X, Chan Y, Jia S, Luo Y, et al. (2013) Folate metabolism gene polymorphisms MTHFR C677T and A1298C and risk for Down syndrome offspring: A meta-analysis. Eur J Obstet Gynecol Reprod Biol 167(2): 154-159
69. Yang M, Gong T, Lin X, Qi L, Guo Y, et al. (2013) Maternal gene polymorphisms involved in folate metabolism and the risk of having a Down syndrome offspring: A meta-analysis. Mutagenesis 28(6): 661-671.