Methylenetetrahydrofolate reductase gene polymorphisms in patients with nonalcoholic steatohepatitis (NASH)

Cell Biochemistry and Function

Volumn 26, Issue 3, 2008, Pages 291-296

  Sazci, Ali ^a   Ergul, Emel ^a   Aygun, Cem ^a   Akpinar, Gurler ^a   Senturk, Omer ^a   Hulagu, Sadettin ^a  

^a KOCAELI UNIVERSITY   (Turkey)

Author keywords

Gender association; MTHFR; Nonalcoholic steatohepatitis (NASH); Polymorphism; Turkey

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2);

ALLELE; ARTICLE; CAUCASIAN; COMPARATIVE STUDY; CONFIDENCE INTERVAL; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; LIVER BIOPSY; MAJOR CLINICAL STUDY; MALE; NONALCOHOLIC FATTY LIVER; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK FACTOR; TURKEY (REPUBLIC);

ADULT; AGED; ALLELES; CASE-CONTROL STUDIES; FATTY LIVER; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; SEX CHARACTERISTICS;

EID: 42949143772     PISSN: 02636484     EISSN: 10990844     Source Type: Journal    
DOI: 10.1002/cbf.1424     Document Type: Article

References (42)

1. Tolman KG, Fonseca V, Tan MH, Dalpiaz AN. A narrative review: hepatobiliary disease in type 2 diabetes mellitus. Ann Intern Med 2004; 141: 946-956.
2. Ludwig J, Viggiano TR, McGill DB, Oh BJ. Nonalcoholic steatohepatitis: mayo clinic experiences with a hitherto unnamed disease. Mayo Clin Proc 1980; 55: 434-438.
3. Sanyal AJ. American Gastroenterological Association. AGA technical review on nonalcoholic fatty liver disease. Gastroenterology 2002; 123: 1705-1725.
4. McCullough AJ. Update on nonalcoholic fatty liver disease. J Clin Gastroenterol 2002; 34: 255-262.
5. Caldwell SH, Swerdlow RH, Khan EM, et al. Mitochondrial abnormalities in non-alcoholic steatohepatitis. J Hepatol 1999; 31: 430-434.
6. Schwimmer JB, Deutsch R, Rauch JB, Behling C, Newbury R, Lavine JE. Obesity, insulin resistance, and other clinico-pathological correlates of pediatric nonalcoholic fatty liver disease. J Pediatr 2003; 143: 500-505.
7. Roberts EA. Steatohepatitis in children. Best Pract Res Clin Gastroenterol 2002; 16: 749-765.
8. Rozen R. Genetic predisposition to hyperhomocysteinemia: deficiency of methylenetetrahydrofolate reductase (MTHFR). Thromb Haemost 1997; 78: 523-526.
9. Jones PA, Gonzalgo ML. Altered DNA methylation and genome instability: a new pathway to cancer? Proc Natl Acad Sci USA 1997; 94: 2103-2105.
10. Friso S, Choi SW, Girelli D, et al. A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status. Proc Natl Acad Sci USA 2002; 99: 5606-5611.
11. Wolffe AP, Matzke MA. Epigenetics: regulation through repression. Science 1999; 286: 481-486.
12. Jones PA, Laird PW. Cancer epigenetics comes of age. Nat Genet 1999; 21: 163-167.
13. Razin A, Riggs AD. DNA methylation and gene function. Science 1980; 210: 604-610.
14. Robertson KD, Wolffe AP. DNA methylation in health and disease. Nat Rev Genet 2000; 1: 11-19.
15. Feinberg AP, Vogelstein B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 1983; 132: 6-13.
16. 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.
17. Kara I, Sazci A, Ergul E, Kaya G, Kilic G. Association of the C677T and A1298C polymorphisms in the 5,10 methylenetetrahydrofolate reductase gene in patients with migraine risk. Mol Brain Res 2003; 111: 84-90.
18. Sazci A, Ergul E, Guzelhan Y, Kaya G, Kara I. Methylenetetrahydrofolate reductase gene polymorphisms in patients with schizophrenia. Mol Brain Res 2003; 117: 104-107.
19. Sazci A, Ergul E, Kucukali I, Kara I, Kaya G. Association of the C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase gene with schizophrenia: association is significant in men but not in women. Prog Neuropsychophartnacol Biol Psychiatry 2005; 29: 1113-1123.
20. Sazci A, Ergul E, Bayulkem K. Association of the C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase gene in patients with essential tremor in Turkey. Mov Disord 2004; 19: 1472-1476.
21. Sazci A, Ergul E, Tuncer N, Akpinar G, Kara I. Methylenetetrahydrofolate reductase gene polymorphisms are associated with ischemic and hemorrhagic stroke: dual effect of MTHFR polymorphisms C677T and A1298C. Brain Res Bull 2006; 71: 45-50.
22. Ergul E, Sazci A, Utkan Z, Canturk NZ. Polymorphisms in the MTHFR gene are associated with breast cancer. Tumor Biol 2003; 24: 286-290.
23. Brunt EM, Janney CG, Di Bisceglie AM, Neuschwander-Tetri BA, Bacon BR. Nonalcoholic steatohepatitis: a proposal for grading and staging the histological lesions. Am J Gastroenterol 1999; 94: 2467-2474.
24. Kleiner DE, Brunt EM, Van Natta M, et al. Nonalcoholic Steatohepatitis Clinical Research Network. Design and validation of a histological scoring system for nonalcoholic fatty liver disease. Hepatology 2005; 41: 1313-1321.
25. Brunt EM. Nonalcoholic steatohepatitis. Semin Liver Dis 2004; 24: 3-20.
26. Sazci A, Ergul E, Kaya G, Kara I. Genotype and allele frequencies of the polymorphic methylenetetrahydrofolate reductase gene in Turkey. Cell Biochem Funct 2005; 23: 51-54.
27. Gulsen M, Yesilova Z, Bagci S, et al. Elevated plasma homocysteine concentrations as a predictor of steatohepatitis in patients with non-alcoholic fatty liver disease. J Gastroenterol Hepatol 2005; 20: 1448-1455.
28. George DK, Goldwurm S, MacDonald GA, et al. Increased hepatic iron concentration in nonalcoholic steatohepatitis is associated with increased fibrosis. Gastroenterology 1998; 114: 311-318.
29. Nolan JP. Intestinal endotoxins as mediators of hepatic injury - an idea whose time has come again. Hepatology 1989; 10: 887-891.
30. Tiegs G. Immunotoxicology of host-response-mediated experimental liver injury. J Hepatol 1994; 21: 890-903.
31. Grove J, Daly AK, Burt AD, et al. Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease. Gut 1998; 43: 262-266.
32. Wanless IR, Shiota K. The pathogenesis of nonalcoholic steatohepatitis and other fatty liver diseases: a four-step model including the role of lipid release and hepatic venular obstruction in the progression to cirrhosis. Semin Liver Dis 2004; 24: 99-106.
33. Ji C, Kaplowitz N. Betaine decreases hyperhomocysteinemia, endoplasmic reticulum stress, and liver injury in alcohol-fed mice. Gastroenterology 2003; 124: 1488-1499.
34. Yahagi N, Shimano H, Hasty AH, et al. Absence of sterol regulatory elment-binding protein-1 (SREBP-1) ameliorates fatty livers but not obesity or insulin resistance in Lep(ob)/Lep(ob) mice. J Biol Chem 2002; 277: 19353-19357.
35. Werstuck GH, Lentz SR, Dayal S, et al. Homocysteine-induced endoplasmic reticulum stress causes dysregulation of the cholesterol and triglyceride biosynthetic pathways. J Clin Invest 2001; 107: 1263-1273.
36. Sanyal AJ, Campbell-Sargent C, Mirshahi F, et al. Nonalcoholic steatohepatitis: association of insulin resistance and mitochondrial abnormalities. Gastroenterology 2001; 120: 1183-1192.
37. Giltay EJ, Hoogeveen EK, Elbers JM, Gooren LJ, Asscheman H, Stehouwer CD. Insulin resistance is associated with elevated plasma homocysteine levels in healthy, non-obese subjects. Atherosclerosis 1998; 139: 197-198.
38. Fonseca VA, Mudaliar S, Schmidt B, Fink LM, Kern PA, Henry RR. Plasma homocysteine concentrations are regulated by acute hyperinsulinemia in nondiabetic but not type 2 diabetic subjects. Metabolism 1998; 47: 686-689.
39. Adinolfi LE, Ingrosso D, Cesaro G, et al. Hyperhomocysteinemia and the MTHFR C677T polymorphism promote steatosis and fibrosis in chronic hepatitis C patients. Hepatology 2005; 41: 995-1003.
40. Watanabe M, Osada J, Aratani Y, et al. Mice deficient in cystathionine beta-synthase: animal models for mild and severe homocyst(e) inemia. Proc Natl Acad Sci USA 1995; 92: 1585-1589.
41. Schwahn BC, Chen Z, Laryea MD, et al. Homocysteine-betaine interactions in a murine model of 5,10-methylenetetrahydrofolate reductase deficiency. FASEB J 2003; 17: 512-514.
42. Huang RF, Hsu YC, Lin HL, Yang FL. Folate depletion and elevated plasma homocysteine promote oxidative stress in rat livers. J. Nutr 2001; 131: 33-38.