Folate Pathway Gene Methylenetetrahydrofolate Reductase C677T Polymorphism and Alzheimer Disease Risk in Asian Population

Indian Journal of Clinical Biochemistry

Volumn 31, Issue 3, 2016, Pages 245-252

  Rai, Vandana ^a  

^a VEER BAHADUR SINGH PURVANCHAL UNIVERSITY   (India)

Author keywords

Alzheimers disease; C677T; Folate; Homocysteine; MTHFR; Neurodegeneration

Indexed keywords

ALLELE; ALZHEIMER DISEASE; ASIAN; GENE; GENETIC MODEL; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; METHYLENETETRAHYDROFOLATE REDUCTASE GENE; REVIEW;

EID: 84932084152     PISSN: 09701915     EISSN: 09740422     Source Type: Journal    
DOI: 10.1007/s12291-015-0512-2     Document Type: Review

References (48)

1. Fernandez LL, Scheibe RM. Is MTHFR polymorphism a risk factor for Alzheimer disease like APOE? Arq Neuropsiquiatr. 2005;63:1–6.
2. Wingo TS, Lah JJ, Levey AI, Cutler DJ. Autosomal recessive causes likely in early-onset Alzheimer disease. Arch Neurol. 2012;69:59–64.
3. Prince DL, Sisodia SS, Borchett DR. Alzheimer disease: when or why? Nat Genet. 1998;19:314–6.
4. Luchsinger JA, Tang MX, Shea S, Miller J, Green R, Mayeux R. Plasma homocysteine levels and risk of Alzheimer disease. Neurology. 2004;62:1972–6.
5. Castro R, Rivera I, Blom HJ, Jakobs C, de Almeida IT. Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: an overview. J Inherit Metab Dis. 2006;29:3–20.
6. Quadri P, Fragiacomo C, Pezzati R, Zanda E, Forloni G, Tettamanti M, et al. Homocysteine, folate, and vitamin B-12 in mild cognitive impairment, Alzheimer disease, and vascular dementia. Am J Clin Nutr. 2004;80:114–22.
7. Kruman II, Culmsee C, Chan SL, Kruman Y, Guo Z, Penix L, et al. Homocysteine elicits a DNA damage response in neurons that promotes apoptosis and hypersensitivity to excitotoxicity. J Neurosci. 2000;20(18):6920–6.
8. Kruman II, Kumaravel TS, Lohani A, Pedersen WA, Cutler RG, Kruman Y, et al. Folic acid deficiency and homocysteine impair DNA repair in hippocampal neurons and sensitize them to amyloid toxicity in experimental models of Alzheimer’s disease. J Neurosci. 2002;22:1752–62.
9. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet. 1995;10:111–3.
10. Beilby J, Rossi E. Number 58: homocysteine and disease. Pathology. 2000;32:262–73.
11. Wilcken B, Bamforth F, Li Z, Zhu H, Ritvanen A, Renlund M, et al. Geographical and ethnic variation of the 677C > T allele of 5,10-methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas worldwide. J Med Genet. 2003;40:619–25.
12. Spiridonova MG, Stepanov VA, Maksimova NR, Puzyrev VP. Population study of frequency of methylenetetrahydrofolate reductase C677T gene polymorphism in Yakutia. Genetika. 2004;40:704–8.
13. Rai V, Yadav U, Kumar P. Prevalence of methylenetetrahydrofolate reductase C677T polymorphism in eastern Uttar Pradesh. Indian J Hum Genet. 2012;18:43–6.
14. Yadav U, Kumar P, Rai V. Docking study of MTHFR with FAD by hex. J Comput Intell Bioinform. 2011;4:171–8.
15. Kluijtmans LA, Young IS, Boreham CA, Murray L, McMaster D, McNulty H, et al. Genetic and nutritional factors contributing to hyperhomocysteinemia in young adults. Blood. 2003;101(7):2483–8.
16. Devlin AM, Clarke R, Birks J, Evans JG, Halsted CH. Interactions among polymorphisms in folate-metabolizing genes and serum total homocysteine concentrations in a healthy elderly population. Am J Clin Nutr. 2006;83:708–13.
17. McIlroy SP, Dynan KB, Lawson JT, Patterson CC, Passmore AP. Moderately elevated plasma homocysteine, methylenetetrahydrofolate reductase genotype, and risk for stroke, vascular dementia, and Alzheimer disease in Northern Ireland. Stroke. 2002;33:2351–6.
18. Chapman J, Wang N, Treves TA, Korczyn AD, Bornstein NM. ACE, MTHFR, factor V Leiden, and APOE polymorphisms in patients with vascular and Alzheimer’s dementia. Stroke. 1998;29:1401–4.
19. Wang B, Jin F, Kan R, Ji S, Zhang C, Lu Z, et al. Association of MTHFR gene polymorphism C677T with susceptibility to late-onset Alzheimer’s disease. J Mol Neurosci. 2005;27:23–7.
20. Mantel N, Haenszel W. Statistical aspects of the analysis of data from retrospective studies of disease. J Natl Cancer Inst. 1959;22(4):719–48.
21. DerSimonian R, Laird N. Meta-analysis in clinical trials. Control Clin Trials. 1986;7:177–88.
22. Zintzaras E, Ioannidis JP. Heterogeneity testing in meta-analysis of genome searches. Genet Epidemiol. 2004;24:1–15.
23. Zintzaras E, Koufakis T, Ziakas PD, Rodopoulou P, Giannouli S, Voulgarelis M. A meta-analysis of genotypes and haplotypes of methylenetetrahydrofolate reductase gene polymorphisms in acute lymphoblastic leukemia. Eur J Epidemiol. 2006;21:501–10.
24. Higgins JP, Thompson SE. Quantifying heterogeneity in a meta-analysis. Stat Med. 2002;21:1539–58.
25. Begg CB, Mazumdar M. Operating characteristics of a rank correlation test for publication bias. Biometrics. 1994;50:1088–101.
26. Egger M, Smith GD, Schneider M, Minde C. Bias in meta-analysis detected by a simple, graphical test. BMJ. 1997;315:629–34.
27. Bax L, Yu LM, Ikeda N, Tsuruta H, Moons KG. Development and validation of MIX: comprehensive free software for meta-analysis of causal research data. BMC Med Res Methodol. 2006;6:50.
28. Kida T, Kamino K, Yamamoto M, Kanayama D, Tanaka T, Kudo T, et al. C677T polymorphism of methylenetetrahydrofolate reductase gene affects plasma homocysteine level and is a genetic factor of late-onset Alzheimer’s disease. Psychogeriatrics. 2004;4:4–10.
29. Zhang YD, Ke XY, Shen W, Liu Y. Relationship of homocysteine and gene polymorphisms of its related metabolic enzymes with Alzheimer’s disease. Chin Med Sci J. 2005;20:247–51.
30. Keikhaee MR, Hashemi SB, Najmabadi H, Noroozian M. C677T methylentetrahydrofolate reductase and angiotensin converting enzyme gene polymorphisms in patients with Alzheimer’s disease in Iranian population. Neurochem Res. 2006;31:1079–83.
31. Kim JM, Stewart R, Kim SW, Yang SJ, Shin IS, Shin HY, et al. Methylenetetrahydrofolate reductase gene and risk of Alzheimer’s disease in Koreans. Int J Geriatr Psychiatry. 2008;23:454–9.
32. Bi XH, Zhao HL, Zhang ZX, Zhang JW. Association of RFC1 A80G and MTHFR C677T polymorphisms with Alzheimer’s disease. Neurobiol Aging. 2009;30:1601–7.
33. Mansoori N, Tripathi M, Luthra K, Alam R, Lakshmy R, Sharma S, et al. MTHFR (677 and 1298) and IL-6-174 G/C genes in pathogenesis of Alzheimer’s and vascular dementia and their epistatic interaction. Neurobiol Aging. 2012;33:1003.e1–8.
34. Divyakolu S, Tejaswini Y, Thomas W, Thumoju S, Sreekanth VR, Vasavi M, et al. Evaluation of C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene in various neurological disorders. Neurol Disord. 2013;2(1):1000142.
35. Kumar J, Das SK, Sharma P, Karthikeyan G, Ramakrishnan L, Sengupta S. Homocysteine levels are associated with MTHFR A1298C polymorphism in Indian population. J Hum Genet. 2005;50:655–63.
36. Religa D, Styczynska M, Peplonska B, Gabryelewicz T, Pfeffer A, Chodakowska M, et al. Homocysteine, apolipoproteine E and methylenetetrahydrofolate reductase in Alzheimer’s disease and mild cognitive impairment. Dement Geriatr Cogn Disord. 2003;16:64–70.
37. Mattson MP, Shea TB. Folate and homocysteien metabolism in neural plasticity and neurodegenerative disorders. Trends Neurosci. 2003;26:137–46.
38. Sachdev PS. Homocysteine and brain atrophy. Prog Neuropsychopharmacol Biol Psychiatry. 2005;29:1152–61.
39. Zhang MY, Miao L, Li YS, Hu GY. Meta-analysis of the methylenetetrahydrofolate reductase C677T polymorphism and susceptibility to Alzheimer’s disease. Neurosci Res. 2010;68:142–50.
40. Yadav U, Kumar P, Yadav SK, Mishra OP, Rai V. Polymorphisms in folate metabolism genes as maternal risk factor for neural tube defects: an updated meta-analysis. Metab Brain Dis. 2014. http://www.ncbi.nlm.nih.gov/pubmed/25005003. Accessed on 9 Jul 2014.
41. Wu X, Wang X, Chan Y, Jia S, Luo Y, Tang W. Folate metabolizing gene polymorphisms MTHFR C677T and A1298c and risk for Down syndrome offspring: a meta-analysis. Eur J Obstet Gynecol Reprod Biol. 2013;167(2):154–9.
42. Zhao M, Ren Y, Shen L, Zhang Y, Zhou B. Association between MTHFR C677T and A1298C polymorphisms and NSCL/P risk in Asians: a meta-analysis. PLoS One. 2014;9:e88242.
43. Rai V. Methylenetetrahydrofolate reductase gene A1298C polymorphism and susceptibility to recurrent pregnancy loss: a meta-analysis. Cell Mol Biol. 2014;60:27–34.
44. Yadav S, Hasan N, Marjot T, Khan MS, Prasad K, Bentley P, Sharma P. Detailed analysis of gene polymorphisms associated with ischemic stroke in South Asians. PLoS One. 2013;8(3):e57305.
45. Gilbody S, Lewis S, Lightfoot T. Methylenetetrahydrofolate reductase MTHFR genetic polymorphisms and psychiatric disorders: a HuGE review. Am J Epidemiol. 2007;165(1):1–13.
46. Rai V. Evaluation of methylenetetrahydrofolate reductase gene variant (C677T) as risk factor for bipolar disorder. Cell Mol Biol. 2011;57:OL1558–66.
47. Schürks M, Rist PM, Kurth T. 5-HTTLPR polymorphism in the serotonin transporter gene and migraine: a systematic review and meta-analysis. Cephalalgia. 2010;30(11):1296–305.
48. Liu H, Yang M, Li GM, Qiu Y, Zheng J, Du X, et al. The MTHFR C677T polymorphism contributes to an increased risk for vascular dementia: a meta-analysis. J Neurol Sci. 2010;294:74–80.