MTHFR A1298C polymorphism is associated with cardiovascular risk in end stage renal disease in North Indians

Molecular and Cellular Biochemistry

Volumn 308, Issue 1-2, 2008, Pages 43-50

  Poduri, Aruna ^a   Mukherjee, Debabrata ^a   Sud, Kamal ^a   Kohli, Harbir Singh ^a   Sakhuja, Vinay ^a   Khullar, Madhu ^a  

^a POSTGRADUATE INSTITUTE OF MEDICAL EDUCATION AND RESEARCH   (India)

Author keywords

A1298C; C677T; Endstage renal disease; G1793A; MTHFR; Single nucleotide polymorphism

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); HOMOCYSTEINE;

ADULT; AMERICAN INDIAN; ARTERY INTIMA PROLIFERATION; ARTICLE; ATHEROSCLEROSIS; CARDIOVASCULAR DISEASE; CARDIOVASCULAR RISK; CONFIDENCE INTERVAL; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENOTYPE; HEMODIALYSIS; HUMAN; KIDNEY FAILURE; MAJOR CLINICAL STUDY; MALE; PROTEIN BLOOD LEVEL; RISK ASSESSMENT; STATISTICAL SIGNIFICANCE;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CARDIOVASCULAR DISEASES; CASE-CONTROL STUDIES; DEMOGRAPHY; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INDIA; KIDNEY FAILURE, CHRONIC; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 38649124893     PISSN: 03008177     EISSN: 15734919     Source Type: Journal    
DOI: 10.1007/s11010-007-9610-7     Document Type: Article

References (47)

1. Foley RN, Parfrey PS, Samak MJ (1998) Clinical epidemiology of cardiovascular disease in chronic renal disease. Am J Kidney Dis 32(5 Suppl 3):S112
2. Bachmann J, Tepel M, Raidt H, Riezler R, Gracte U, Langer K, Zidek W (1995) Hyperhomocstenimia & the risk for vascular disease in hemodialysis patients. J Am Soc Nephrol 6:121-125
3. Bostom AG, Shemim D, Verhoef P, Nadeau MR, Jacqueus PF, Selhub J, Dworkin L, Rosenberg IH (1997) Elevated fasting total plasma homocysteine levels & cardiovascular diseases outcomes in maintaineance dialysis patients. A prospective study. Arterioscler Thromb Vasc Biol 17:2554-2558
4. Moustapha A, Naso A, Nahlawi M, Gupta A, Arheart KL, Jacobson DW, Robinson K, Dennis VW. (1998) Prospective study of hyperhomocysteinimia as an adverse cardiovascular risk factor in end stage renal disease. Circulation 97:138-141
5. Pastore A, Angelis SD, Casciani S, Ruggia R, Giovamberardino GD, Noce A, Splendiani G, Cortese C, Federici G, Dessi M (2006) Effects of folic acid before and after vitamin B12 on plasma homocysteine concentrations in hemodialysis patients with known MTHFR genotypes. Clin Chem 52:145-148
6. Welch GN, Loscalzo J (1998) Homocysteine and atherothrombosis. N Engl J Med 338:1042-1050
7. Sehlub J (1999) Homocysteine metabolism. Ann Rev Nutr 19:217-246
8. Frosst P Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJH, den Heijer M, Kluijtmans LAJ, van den Heuve LP, Rozen R (1995) A candidate genetic risk factor for vascular disease: A common mutation in, methylenetetrahydrofolate reductase. Nat Genet 10:111-113
9. Weinberg I, Tran P, Christensen B, Sibani S, Rozen R (1998) A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Molec Genet Metab 64:1044-1051
10. Rady PL, Szucs S, Grady J, Hudnall SD, Kellner LH, Nitowsky H, Tyring SK, Matalon RK (2002) Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in ethnic populations in Texas; a report of a novel MTHFR polymorphic site, G1793A. Am J Med Genet 107:162-168
11. Friedman G, Goldschimdt N, Friedlander Y, Ben-Yehuda A, Sehlub J, Babaey S, Mendel M, Kidron M, Bar On H (1999) A common mutation A1298C in human methylenehydrofolate reductase gene: Association with plasma total homocysteine and folate concentrations. J Nutr 129:1656-1661
12. van der Put NMJ, Gabreels F, Stevens EMB, Smeitlink JA, Trijbels FJ, Eskes TK, van den Heuvel LP, Biom HJ (1998) A second common mutation in the methylenetetrahydrofolate reductase: An additional risk factor for neural tube defects? Am J Hum Genet 62:1044-1051
13. Kimura H, Gejyo F, Suzuki S, Miyazaki R (2000) The C677T methylenetetrahydrofolate reducatase gene mutation in hemodialysis patients. J Am Soc Nephrol 11:885-893
14. Miromoto K, Haneda T, Okamoto K, Ishida H, Kikuchi K (2002) Methylenetetrahydrofolate reductase gene polymorphism. Hyperhomocysteinimia & Cardiovascular diseases in chronic hemodialysis patients. Nephron 90:43-50
15. Winkelmayer WC, Plassmann GS, Huber A, Fodinger M (2004) Patterns of co-occurrence of three single polymorphisms of the 5, 10-methylenetetrahydrofolate reductase gene in kidney transplant recipients. Eur J Clin Invest 34:613-618
16. Sidhu PS, Desai SR (1997) A simple and reproducible method for assessing intimal-medial thickness of common carotid artery. Br J Radiol 70:85-89
17. Lahiri DK, Nurnberger JI Jr (1991) A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acid Res 19:5444
18. Langman LJ, Wong BYL, Boggis C, Rubin LA, Cole DEC (1998) The prevalence and linkage disequilibrium of three methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms varies in different ethnic groups. Presented at INABIS 98'5th Internet World Congress on Biomedical Sciences at McMaster University, Canada, Dec 7-16th. Available at URL: http://www.mcmaster.ca/inabis98/cvdisease/langman0264/index.html
19. Dennis VW, Robinson K. (1996) Homocysteinemia and vascular disease in end-stage renal disease. Kidney Int 50(Suppl 57):11-17
20. Robinson K, Gupta A, Dennis V, Arheart K, Chaudhary D, Green R, Vigo P, Mayer EL, Selhub J, Kutner M, Jacobsen DW (1996) Hyperhomocysteinemia confers an independent increased risk of atherosclerosis in end-stage renal disease and is closely linked to plasma folate and pyridoxine concentrations. Circulation 94:2743-2748
21. Stampfer MJ, Malinow MR, Willett WC, Newcomer LM, Upson B, Ullmann D, Tishler PV, Hennekens CH (1992) A prospective study of plasma homocyst(e)ine and risk of myocardial infarction in US physicians. JAMA 268:877-881
22. Verhoef P, Hennekens CH, Malinow MR, Kok FJ, Willett WC, Stampfer MJ (1994) A prospective study of plasma homocyst(e)ine and risk of ischemic stroke. Stroke 25:1924-1930
23. Petri M, Roubenoff R, Dallal GE, Nadeau MR, Selhub J, Rosenberg IH (1996) Plasma homocysteine as a risk factor for atherothrombotic events in systemic lupus erythematosus. Lancet 348:1120-1124
24. Wilcken DEL, Dudman NPB, Tyrell PA, Robertson MA (1988) Folic acid lowers elevated plasma homocysteine in chronic renal insufficiency possible implications for prevention of vascular disease. Metabolism 37:697-701
25. Arnadottir M, Brattstrom L, Simonsen O, Thysell H, Hultberg B, Andersson A, Nilsson-Ehle P (1993) The effect of high-dose pyridoxine and folic acid supplementation on serum lipid and plasma homocysteine concentrations in dialysis patients. Clin Neph 40:236-240
26. Bostom AG, Shemin D, Lapane KL, Hume AL, Yoburn D, Nadeau MR, Bendich A, Selhub J, Rosenberg IH (1996) High dose B-vitamin treatment of hyperhomocysteinemia in dialysis patients. Kidney Int 49:147-52
27. Dierkes J, Domrose U, Ambrosch A, Bosselmann HP, Neumann KH, Luley C (1999) Response of hyperhomocysteinemia to folic acid supplementation in patients with end-stage renal disease. Clin Nephrol 51:108-115
28. Tremblay R, Bonnardeaux A, Geadah D, Busque L, Lebrun M, Ouimet D, Leblanc M (2000) Hyperhomocysteinemia in hemodialysis patients: Effects of 12-month supplementation with hypersoluble vitamins. Kidney Int 58:851-858
29. Zoungas S, McGrath BP, Branley P, Kerr PG, Muske C, Wolfe R, Atkins RC, Nicholls K, Fraenkel M, Hutchison BG, Walker R, McNeil JJ (2006) Cardiovascular mortality and mortality in atherosclerosis and folic acid supplementation trial (ASFAST) in chronic renal failure a multicenter randomized, controlled trail. J Am Coll Cardiol 47:1108-1116
30. Oh J, Wunsch R, Turzer M, Bahner M, Raggi P, Querfeld U, Mehls O, Schaefer F (2002) Advanced coronary and carotid arteriopathy in young adults with childhood-onset chronic renal failure. Circulation 106:100-105
31. Fodinger M, Buchmayer H, Hienz G, Papagiannopoulos M, Kletzmayr J, Perschi A, Vychytii A, Hori WH, Plassmann GS (2001) Association of two MTHFR polymorphisms with total homocysteine plasma levels in dialysis patients. Am J Kid Dis 38:77-84
32. Shpichinetsky V, Raz I., Friedlander Y, Goldschmidt N, Wexler ID, Ben-Yehuda A, Friedman G (2000) The association between two common mutation C677T and A1298C in human methylenetetrahydrofolate reductase gene and the risk for diabetic nephropathy in type II diabetic patients. J Nutr 130:2493-2497
33. Fodinger M, Buchmayer H, Heinz G, Papagiannopoulos M, Kletzmayr J, Rasoul-Rockenschaub S, Horl WH, Sunder-Plassmann G (2000) Effect of MTHFR 1298A > C and MTHFR 677C > T genotypes on total homocysteine, folate, and vitamin B12 plasma concentrations in kidney graft recipients. J Am Soc Nephrol 11:1918-1925
34. Kumar J, Das SK, Sharma P, Karthikeyan G, Ramakrishnan L, Sengupta S (2005) Homocysteine levels are associated with MTHFR A1298C polymorphism in Indian population. J Hum Genet 50:655-663
35. Tsai MY, Arnett DK, Eckfeldt JH, William RR, Ellison RC (2000) Plasma homocysteine and its association with carotid intimal medial thickness and prevalent coronary heart disease: NHLBI family heart study. Atherosclerosis 151:519-524
36. Maroo AO, Doneell CJ (2002) Current practice and future promise for clinical noninvasive measurements of subclinical atherosclerotic disease in the elderly. Am J Geriatr Cardiol 11:108-116
37. Yokoyama T, Miyauchi K (2002) Carotid artery ultrasound and intravascular ultrasound. Nippon Rinsho 60:922-926
38. Sun J, Xu Y, Zhu Y, Lu H (2004) Genetic polymorphism of methylenetetrahydrofolate reductase as a risk factor for diabetic nephropathy in Chinese type 2 diabetic patients. Diabetes Res Clin Pract 64:185-190
39. Ksiazek P, Bednarek-Skublewska A, Buraczynska M (2004) The C677T methylenetetra-hydrofolate reductase gene mutation and nephropathy in type 2 diabetes mellitus. Med Sci Monit 10: BR47-BR51
40. Moczulski D, Fojcik H, Zukowska-Szczechowska E, Szydlowska I, Grzeszczak W (2003) Effects of the C677T and A1298C polymorphisms of the MTHFR gene on the genetic predisposition for diabetic nephropathy. Nephrol Dial Transplant 18:1535-1540
41. Noiri E, Taguchi JI, Nakao A, Fujita T (2000) MTHFR gene polymorphism as an exacerbation factor of diabetic nephropathy in type 2 diabetes. Analysis in Japanese male hemodialysis patients. Diabetes Care 23:260
42. Mtiraoui N, Ezzidi I, Chaieb M, Marmouche H, Aouni Z, Chaieb A, Mahjoub T, Vaxillaire M, Almawi WY (2007) MTHFR C677T and A1298C gene polymorphisms and hyperhomocysteinemia as risk factors of diabetic nephropathy in type 2 diabetes patients. Diabetes Res Clin Pract 75:99-106
43. Fujita H, Narita T, Meguro H, Ishii T, Hanyu O, Suzuki K, Kamoi K, Ito S (1999) No association between MTHFR gene polymorphism and diabetic nephropathy in Japanese type II diabetic patients with proliferative diabetic retinopathy. J Diabetes Complications 13:284-287
44. Mukerjee M, Joshi S, Bagadi S, Dalvi M, Rao A, Shetty KR (2002) The low prevalence of the C677T mutation in the methylenetetrahydrofolate reductase gene in Asian Indians. Clin Gent 61:155-159
45. Lim PS, Hung WR, Wei YH (2001) Polymorphism in methylenetetrahydrofolate reductase gene; its impact on plasma homocysteine levels and carotid artherosclerosis in ESRD patients receiving hemodialysis. Nephron 87:249-256
46. Haviv YS, Shpichinetsky V, Goldschmidt N, Abou Atta I, Ben-Yehuda A, Friedman G (2002) The common mutations C677T and a1298C in the human methylenetetrahydrofolate reductase gene are associated with hyperhomocstenimia and cardiovascular disease in hemodialysis patients. Nephron 92:120-126
47. Koupepidou P, Deltas C, Christofides TC, Athanasiou Y, Zouvani I, Pierides A (2005) The MTHFR 677TT and 677CT/1298AC genotypes in Cypriot patients may be predisposing to hypertensive nephrosclerosis and chronic renal failure. Int Angiol 24:287-294