Prevalence of methylenetetrahydrofolate reductase polymorphisms in young patients with inflammatory bowel disease

Digestive Diseases and Sciences

Volumn 51, Issue 3, 2006, Pages 474-479

  Stocco, Gabriele ^a   Martelossi, Stefano ^b   Sartor, Franca ^c   Toffoli, Giuseppe ^c   Lionetti, Paolo ^d   Barabino, Arrigo ^e   Fontana, Massimo ^f   Decorti, Giuliana ^a   Bartoli, Fiora ^a   Giraldi, Tullio ^a   Ventura, Alessandro ^b  

^a UNIVERSITY OF TRIESTE   (Italy)

^b INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^c CENTRO DI RIFERIMENTO ONCOLOGICO   (Italy)

^d UNIVERSITY OF FLORENCE   (Italy)

^e G GASLINI INSTITUTE   (Italy)

^f V BUZZI CHILDREN S HOSPITAL   (Italy)

Author keywords

Genetic polymorphism; Inflammatory bowel disease; Methylenetetrahydrofolate reductase; Thiopurines

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); 6 MERCAPTOPURINE DERIVATIVE;

ADOLESCENT; ADULT; ANEMIA; ARTICLE; BONE MARROW TOXICITY; CHILD; CONTROLLED STUDY; DISEASE ASSOCIATION; DRUG FATALITY; ENTERITIS; ENZYME POLYMORPHISM; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; INCIDENCE; LEUKOPENIA; LYMPHOCYTOPENIA; MAJOR CLINICAL STUDY; MALE; PANCYTOPENIA; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; THROMBOCYTOPENIA;

ADOLESCENT; ADULT; BASE SEQUENCE; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CONFIDENCE INTERVALS; FEMALE; GENE EXPRESSION REGULATION; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; IMMUNOSUPPRESSIVE AGENTS; INFLAMMATORY BOWEL DISEASES; MALE; MAXIMUM TOLERATED DOSE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MOLECULAR SEQUENCE DATA; MUTATION; ODDS RATIO; PHARMACOGENETICS; POLYMORPHISM, GENETIC; PREVALENCE; PROBABILITY; REFERENCE VALUES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; SEVERITY OF ILLNESS INDEX;

EID: 33645885609     PISSN: 01632116     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10620-006-3158-3     Document Type: Article

References (33)

1. Ueland PM, Hustad S, Schneede J, Refsum H, Vollset SE: Biological and clinical implications of the MTHFR C677T polymorphism. Trends Pharmacol Sci 22:195-201, 2001
2. Frosst P, Blom HJ, Milos R, et al.: A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 10:111-113, 1995
3. Kang SS, Zhou J, Wong PW, Kowalisyn J, Strokosch G: Intermediate homocysteinemia: a thermolabile variant of methylenetetrahydrofolate reductase. Am J Hum Genet 43:414-421, 1988
4. Bagley PJ, Selhub J: 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 95:13217-13220, 1998
5. Stern LL, Mason JB, Selhub J, Choi SW: Genomic DNA hypomethylation, a characteristic of most cancers, is present in peripheral leukocytes of individuals who are homozygous for the C677T polymorphism in the methylenetetrahydrofolate reductase gene. Cancer Epidemiol Biomarkers Prev 9:849-853, 2000
6. Brattstrom L, Wilcken DE, Ohrvik J, Brudin L: Common methylenetetrahydrofolate reductase gene mutation leads to hyperhomocysteinemia but not to vascular disease: the result of a meta-analysis. Circulation 98:2520-2526, 1998
7. van der Put NM, Steegers-Theunissen RP, Frosst P, Trijbels FJ, Eskes TK, van den Heuvel LP, Mariman EC, den Heyer M, Rozen R, Blom HJ: Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 346:1070-1071, 1995
8. Neugebauer S, Baba T, Watanabe T: Methylenetetrahydrofolate reductase gene polymorphism as a risk factor for diabetic nephropathy in NIDDM patients. Lancet 352:454, 1998
9. Toffoli G, Gafa R, Russo A, Lanza G, Dolcetti R, Sartor F, Libra M, Viel A, Boiocchi M: Methylenetetrahydrofolate reductase 677 C→T polymorphism and risk of proximal colon cancer in north Italy. Clin Cancer Res 9:743-748, 2003
10. Wiemels JL, Smith RN, Taylor GM, Eden OB, Alexander FE, Greaves MF: Methylenetetrahydrofolate reductase (MTHFR) polymorphisms and risk of molecularly defined subtypes of childhood acute leukemia. Proc Natl Acad Sci USA 98:4004-4009, 2001
11. Mahmud N, Molloy A, McPartlin J, Corbally R, Whitehead AS, Scott JM, Weir DG: Increased prevalence of methylenetetrahydrofolate reductase C677T variant in patients with inflammatory bowel disease, and its clinical implications. Gut 45:389-394, 1999
12. Nielsen JN, Larsen TB, Fredholm L, Brandslund I, Munkholm P, Hey H: Increased prevalence of methylenetetrahydrofolate reductase C677T variant in patients with IBD. Gut 47:456-457, 2000
13. Papa A, De Stefano V, Danese S, Chiusolo P, Persichilli S, Casorelli I, Zappacosta B, Giardina B, Gasbarrini A, Leone G, Gasbarrini G: Hyperhomocysteinemia and prevalence of polymorphisms of homocysteine metabolism-related enzymes in patients with inflammatory bowel disease. Am J Gastroenterol 96:2677-2682, 2001
14. Vecchi M, Sacchi E, Saibeni S, Meucci G, Tagliabue L, Duca F, De Franchis R: Inflammatory bowel diseases are not associated with major hereditary conditions predisposing to thrombosis. Dig Dis Sci 45:1465-1469, 2000
15. Weisberg I, Tran P, Christensen B, Sibani S, Rozen R: A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab 64:169-172, 1998
16. Ulrich CM, Yasui Y, Storb R, Schubert MM, Wagner JL, Bigler J, Ariail KS, Keener CL, Li S, Liu H, Farin FM, Potter JD: Pharmacogenetics of methotrexate: toxicity among marrow transplantation patients varies with the methylenetetrahydrofolate reductase C677T polymorphism. Blood 98:231-234, 2001
17. Toffoli G, Russo A, Innocenti F, Corona G, Tumolo S, Sartor F, Mini E, Boiocchi M: Effect of methylenetetrahydrofolate reductase 677C→T polymorphism on toxicity and homocysteine plasma level after chronic methotrexate treatment of ovarian cancer patients. Int J Cancer 103:294-299, 2003
18. Toffoli G, Veronesi A, Boiocchi M, Crivellari D: MTHFR gene polymorphism and severe toxicity during adjuvant treatment of early breast cancer with cyclophosphamide, methotrexate, and fluorouracil (CMF). Ann Oncol 11:373-374, 2000
19. Kirschner BS: Safety of azathioprine and 6-mercaptopurine in pediatric patients with inflammatory bowel disease. Gastroenterology. 115:813-821, 1998
20. Barabino A, Torrente F, Ventura A, Cucchiara S, Castro M, Barbera C: Azathioprine in paediatric inflammatory bowel disease: an Italian multicentre survey. Aliment Pharmacol Ther 16:1125-1130, 2002
21. Lennard L: The clinical pharmacology of 6-mercaptopurine. Eur J Clin Pharmacol 43:329-339, 1992
22. Elion GB: The purine path to chemotherapy. Science 244:41-47, 1989
23. Cancer Therapy Evaluation Program: Common Terminology Criteria for Adverse Events, Version 3.0, 2003; available at http://ctep.cancer.gov
24. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJ, den Heijer M, Kluijtmans LA, van den Heuvel LP: A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 10:111-113, 1995
25. Skibola CF, Smith MT, Kane E, Roman E, Rollinson S, Cartwright RA, Morgan G: Polymorphisms in the methylenetetrahydrofolate reductase gene are associated with susceptibility to acute leukemia in adults. Proc Natl Acad Sci USA 96:12810-12815, 1999
26. van der Put NM, Gabreels F, Stevens EM, Smeitink JA, Trijbels FJ, Eskes TK, van den Heuvel LP, Blom HJ: A second common mutation in the methylenetetrahydrofolate reductase gene: An additional risk factor for neural-tube defects? Am J Hum Genet 62:1044-1051, 1998
27. Longstreth GF, Green R: Folate status in patients receiving maintenance doses of sulfasalazine. Arch Intern Med 143:902-904, 1983
28. Wakefield AJ, Sawyerr AM, Dhillon AP, Pittilo RM, Rowles PM, Lewis AA, Pounder RE: Pathogenesis of Crohn's disease: multifocal gastrointestinal infarction. Lancet 2:1057-1062, 1989
29. Larsen TB, Nielsen JN, Fredholm L, Brandslund I, Munkholm P, Hey H: Hyperhomocysteinaemia, coagulation pathway activation and thrombophilia in patients with inflammatory bowel disease. Scand J Gastroenterol 37:62-67, 2002
30. Nakano E, Taylor CJ, Chada L, McGaw J, Powers HJ: Hyperhomocystinemia in children with inflammatory bowel disease. J Pediatr Gastroenterol Nutr 37:586-590, 2003
31. Kader HA, Berman WF, Al-Seraihy AS, Ware RE, Ulshen MH, Treem WR: Prevalence of factor V G1691A (Leiden), prothrombin G20210A, and methylene tetrahydrofolate reductase C677T thrombophilic mutations in children with inflammatory bowel disease. J Pediatr Gastroenterol Nutr 35:629-635, 2002
32. Ulrich CM, Robien K, Sparks R: Pharmacogenetics and folate metabolism - a promising direction. Pharmacogenomics 3:299-313, 2002
33. Wisotzkey JD, Toman J, Bell T, Monk JS, Jones D: MTHFR (C677T) polymorphisms and stage III colon cancer: response to therapy. Mol Diagn 4:95-99, 1999