Methylenetetrahydrofolate reductase and methionine synthase reductase gene polymorphisms and protection from microvascular complications in adolescents with type 1 diabetes

Pediatric Diabetes

Volumn 9, Issue 4 PART 2, 2008, Pages 348-353

  Wiltshire, Esko J ^a   Mohsin, Fauzia ^b   Chan, Albert ^b   Donaghue, Kim C ^b,c  

^a UNIVERSITY OF OTAGO WELLINGTON   (New Zealand)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

Author keywords

A1298C; A66G; C677T; Homocysteine; Microvascular complication

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ALANINE; ALBUMIN; CYSTEINE; FOLIC ACID; GLYCINE; HOMOCYSTEINE; METHIONINE SYNTHASE REDUCTASE; THREONINE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; AUSTRALIA; CHILD; CONTROLLED STUDY; DIABETIC MICROANGIOPATHY; DIABETIC NEPHROPATHY; DIABETIC RETINOPATHY; ENDOTHELIAL DYSFUNCTION; FEMALE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR CLINICAL STUDY; MALE; MICROALBUMINURIA; OPHTHALMOSCOPY; PEDIATRIC HOSPITAL; PRIORITY JOURNAL; RADIOIMMUNOASSAY; RISK ASSESSMENT; RISK FACTOR; RISK REDUCTION; SCREENING TEST; SURVIVAL RATE;

ADOLESCENT; CHILD; DIABETES MELLITUS, TYPE 1; DIABETIC NEPHROPATHIES; DIABETIC RETINOPATHY; ENDOTHELIUM, VASCULAR; FEMALE; FERREDOXIN-NADP REDUCTASE; HUMANS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); POLYMORPHISM, GENETIC; RISK FACTORS;

EID: 48649109301     PISSN: 1399543X     EISSN: 13995448     Source Type: Journal    
DOI: 10.1111/j.1399-5448.2008.00374.x     Document Type: Article

References (41)

1. Wiltshire EJ, Gent R, Hirte C, Pena A, Thomas DW, Couper JJ. Endothelial dysfunction relates to folate status in children and adolescents with type 1 diabetes. Diabetes 2002: 51: 2282-2286.
2. Ross R. The pathogenesis of atherosclerosis: A perspective for the 1990s. Nature 1993: 362: 801-809.
3. Stehouwer CDA, Fischer A, van Kuijk AWR, Polak BCP, Donker AJM. Endothelial dysfunction precedes development of microalbuminuria in IDDM. Diabetes 1995: 44: 561-564.
4. Pena AS, Wiltshire E, Gent R, Hirte C, Couper J. Folic acid improves endothelial function in children and adolescents with type 1 diabetes. J Pediatr 2004: 44: 500-504.
5. Mc Kenzie K, Wiltshire E, Gent R, Hirte C, Piotto L, Couper JJ. Folate and vitamin B12 rapidly normalise endothelial function in children with type 1 diabetes. Pediatrics 2006: 118: 242-253.
6. The Homocysteine Studies Collaboration. Homocysteine and risk of ischaemic heart disease and stroke: A meta-analysis. JAMA 2002: 288: 2015-2022.
7. The Diabetes Control and Complications Research Group. Clustering of long-term complications in families with diabetes in the diabetes control and complications trial. Diabetes 1997: 46: 1829-1839.
8. van der Put NMJ, Steegers-Theunissen RPM, Frosst P et al. Mutated methylene tetrahydrofolate reductase as a risk factor for spina bifida. Lancet 1995: 346: 1070-1071.
9. Whitehead AS, Gallagher PM, Mills JL et al. A genetic defect in 5,10-methylene tetrahydrofolate reductase in neural tube defects. Q J Med 1995: 88: 763-766.
10. Shields DC, Kirke PN, Mills JL et al. 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 mother. Am J Hum Genet 1999: 64: 1045-1055.
11. van der Put NMJ, Gabreëls F, Stevens EMB et al. A second common mutation in the methylene-tetrahydrofolate reductase gene: An additional risk factor for neural-tube defects? Am J Hum Genet 1998: 62: 1044-1051.
12. Frosst P, Blom HJ, Milos R et al. A candidate genetic risk factor for vascular disease: A common mutation in methylene tetrahydrofolate reductase. Nat Genet 1995: 10: 111-113.
13. Kluitmans LAJ, van den Heuvel LPWJ, Boers GHJ et al. Molecular genetic analysis in mild hyperhomocysteinemia: A common mutation in the methylene-tetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet 1996: 58: 35-41.
14. Klerk M, Verhoef P, Clarke R, Blom HJ, Kok FJ, Schouten EG. MTHFR Studies Collaboration Group: MTHFR 677C→T polymorphism and risk of coronary heart disease: A meta-analysis. JAMA 2002: 288: 2023-2031.
15. Neugebaur S, Baba T, Kurokawa K, Watanabe T. Defective homocysteine metabolism as a risk factor for diabetic retinopathy. Lancet 1997: 349: 473-474.
16. Neugebaur S, Baba T, Watanabe T. Methylenetetrahydrofolate reductase gene polymorphism as a risk factor for diabetic nephropathy in NIDDM patients. Lancet 1998: 352: 454.
17. Shpichinetsky V, Raz I, Friedlander Y et al. The association between two common mutations C677T and A1298C in human methylenetetrahydrofolate reductase gene and the risk for diabetic nephropathy in type II diabetic patients. J Nutr 2000: 130: 2493-2497.
18. Scherbak NS, Shutskaya ZV, Sheidina AM, Larinova VI, Schwartz EI. Methylenetetrahydrofolate reductase gene polymorphism as a risk factor for diabetic nephropathy in IDDM patients. Mol Genet Metab 1999: 68: 375-378.
19. Smythe JS, Savage DA, Maxwell AP. MTHFR gene polymorphism and diabetic nephropathy in type 1 diabetes. Lancet 1999: 353: 1156-1157.
20. Makita Y, Moczulski DK, Bochenski J, Smiles AM, Warram Y, Krolewski AS. Methylenetetrahydrofolate reductase gene polymorphism and susceptibility to diabetic nephropathy in type 1 diabetes. Am J Kidney Dis 2003: 41: 1189-1194.
21. Wilson A, Platt R, Wu Q et al. A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida. Mol Genet Metab 1999: 67: 317-323.
22. Leclerk D, Wilson A, Dumas R et al. Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. Proc Natl Acad Sci U S A 1998: 95: 3059-3064.
23. Olteanu H, Munson T, Banerjee R. Differences in the efficiency of reductive activation of methionine synthase reductase and exogenous electron acceptors between the common polymorphic variants of human methionine synthase reductase. Biochemistry 2002: 41: 13378-13385.
24. Gaughan DJ, Kluijtmans LA, Barbaux S et al. The methionine synthase reductase (MTRR) A66G polymorphism is a novel genetic determinant of plasma homocysteine concentrations. Atherosclerosis 2001: 157: 451-456.
25. Berg UB, Torbjörnsdotter TB, Jaremko G, Thalme B. Kidney morphological changes in relation to long-term renal function and metabolic control in adolescents with IDDM. Diabetologia 1998: 41: 1047-1056.
26. Klein R, Klein BE, Moss E, Davis MD, Demets DL. The Wisconsin Epidemiologic Study of Diabetic Retinopathy. IX. Four-year incidence and progression of diabetic retinopathy when age at diagnosis is less than 30 years. Arch Ophthalmol 1989: 107: 237-243.
27. Maguire A, Chan A, Cusumano J et al. The case for biennial retinopathy screening in children and adolescents. Diabetes Care 2005: 28: 509-513.
28. Couper JJ, Staples AJ, Cocciolone R, Nairn J, Badcock N, Henning P. Relationship of smoking and albuminuria in children with insulin-dependent diabetes. Diabet Med 1994: 11: 666-669.
29. Couper JJ, Clarke CF, Byrne GC et al. Progression of borderline increase in albuminuria in adolescents with insulin-dependent diabetes mellitus. Diabet Med 1997: 14: 766-771.
30. van der Put NMJ, Blom HJ. The 1298(A→C) mutation of methylenetetrahydrofolate reductase should be designated to the 1289 position of the gene. Am J Hum Genet 2000: 66: 744-745 (Letter reply).
31. O'Leary VB, Mills JL, Pangilianan F. et al.;
32. members of the Birth Defects Research Group. Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association. Mol Genet Metab 2005: 85: 220-227.
33. Zintzaras E, Chatzoulis DZ, Karabasta CH, Stefanidis I. The relationship between C677T methylenetetrahydrofolate reductase gene polymorphism and retinopathy in type 2 diabetes: A meta-analysis. J Hum Genet 2005: 50: 267-275.
34. Zintzaras E, Uhlig K, Koukoulis GN, Papathanasiou AA, Stefanidis I. Methylenetetrahydrofolate reductase gene polymorphism as a risk factor for diabetic nephropathy: A meta-analysis. J Hum Genet 2007: 52: 881-890.
35. Wiltshire E. Homocysteine and endothelial function in children and adolescents with type 1 diabetes. MD thesis, Faculty of Medicine,University of Otago, Dunedin, 2002.
36. Kark JD, Selhub J, Bostom A, Adler B, Rosenberg IH. Plasma homocysteine and all-cause mortality in diabetes. Lancet 1999: 353: 1936-1937.
37. Stone ML, Craig ME, Chan AK, Lee JW, Verge CF, Donaghue KC. Natural history and risk factors for microalbuminuria in adolescents with type 1 diabetes: A longitudinal study. Diabetes Care 2006: 29: 2072-2077.
38. Zhu H, Wicker NJ, Shaw GM et al. Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects. Mol Genet Metab 2003: 78: 216-221.
39. Pietrzyk JJ, Bik-Multanowski M, Sanak M, Twardowska M. Polymorphisms of the 5,10-methylenetetrahydrofolate and the methionine synthase reductase genes as independent risk factors for spina bifida. J Appl Genet 2003: 44: 111-113.
40. Jacques PF, Bostom AG, Williams RR et al. Relation between folate status, a common mutation in methylene-tetrahydrofolate reductase and plasma homocysteine concentrations. Circulation 1996: 93: 7-9.
41. Wiltshire E, Thomas DW, Baghurst P, Couper J. Reduced total plasma homocyst(e)ine in children and adolescents with type 1 diabetes. J Pediatr 2001: 138: 888-893.