Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:1.5.7.1 (methylenetetrahydrofolate reductase)
 2,116 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Nonalcoholic fatty liver disease (NAFLD) is the most common cause of abnormal hepatic steatosis in the absence of a history of alcohol use. Nonalcoholic steatohepatitis (NASH) is the progressive form of NAFLD. Hyperhomocysteinemia causes steatosis, and the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms result in hyperhomocysteinemia. To examine whether the C677T and A1298C polymorphisms of the MTHFR gene were associated with NASH, we analysed the allele and genotype distribution of the MTHFR C677T and A1298C polymorphisms in 57 well-diagnosed NASH patients, 324 healthy controls in a case-control study of Turkish subjects of Caucasian origin. The diagnosis of the NASH patients was based on liver biopsy. The method used in the analysis of genotypes was PCR-RFLP. The MTHFR A1298C polymorphism was significantly associated with NASH (chi(2) = 8.439; p = 0.015) in the total NASH patients compared with healthy controls. The MTHFR 1298C allele (odds ratio (OR) = 2.480; 95%CI = 1.286-4.782; chi(2) = 7.703; df = 1; p = 0.006) was significantly associated with NASH in the total NASH patients. The MTHFR C677C/A1298C compound genotype (OR = 2.218; 95%CI = 1.003-4.906; chi(2) = 3.998; df = 1; p = 0.046) in men patients was also significantly associated with NASH. Likewise the MTHFR C1298C genotype was significantly associated with NASH in women patients with NASH (OR = 2.979; 95%CI = 1.027-8.641; chi(2) = 4.343; df = 1; p = 0.037). In conclusion, the MTHFR 1298C allele in all NASH patients, C1298C genotype, C677C/C1298C compound genotype in women NASH patients and C677C/A1298C compound genotype in men NASH patients were genetic risk factors for NASH.
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PMID:Methylenetetrahydrofolate reductase gene polymorphisms in patients with nonalcoholic steatohepatitis (NASH). 1756 23

Non-alcoholic fatty liver disease (NAFLD) is one of the most common chronic liver diseases. The con- cept of NAFLD ranges from simple steatosis (NAFL) to non-alcoholic steatohepatitis (NASH) and cirrhosis. The majority of NAFLD has been recognized as a hepatic manifestation of metabolic syndrome with a close association with insulin resistance. Regarding the development of NAFLD/NASH, adiponectin and TNFa are thought to have key roles. Moreover, the gut microbiota may affect energy metabolism in the context of NAFLD. Genetic susceptibility to NAFLD may be determined by polymorphisms of patatin-like phospho- lipase domain-containing 3 (PNPLA3) and methylenetetrahydrofolate reductase (MTHFR). The diagnosis of NAFLD/NASH is made by liver biopsy. The differential diagnosis between NAFL and NASH has been made according to Matteoni's classification, and the progression of liver fibrosis has been determined by Brunt's staging. For the prevention and treatment of NAFLD, the modification of dietary habits and promo- tion of physical activity including aerobic and resistance training are essential. Although vitamin E, pioglita- zone, or liraglutide is used as a first-line treatment for NAFLD, pharmacotherapy for NAFLD has not been established because of the insufficient pharmacological effects of these agents. Among recently developed drugs, farnesoid X nuclear receptor ligand obeticholic acid is the most promising for first-in-class treatment of NASH. In this review, the details of recent advances in knowledge about the epidemiology, etiology, diag- nosis, and treatment of NAFLD/NASH are described. [Review].
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PMID:[Progress in the Management of NAFLD/NASH]. 3069 68