title: MTHFR 677C/T and 1298A/C mutations and non-alcoholic fatty liver disease.
abstract: Common genetic mutations encountered in folate metabolism may result in increased homocysteine (Hcy) levels. It has been reported that increased serum Hcy levels may affect the intracellular fat metabolism and may cause enhanced fatty infiltration in the liver resulting in non-alcoholic fatty liver disease (NAFLD). In total, 150 patients diagnosed with FLD by ultrasound examination and 136 healthy control patients that do not have any fatty infiltration in the liver were included in the study. Patients were grouped as mild (n = 88), moderate (n = 38) or severe (n = 24) according to the stage of fatty liver in ultrasound. Serum liver function tests, Hcy, folic acid and vitamin B12 levels of the patients were studied. The genetic MTHFR C677T and A1298C polymorphisms of the patients were also evaluated. Although there was no significant difference in vitamin B12 and folic acid levels, in the severe group, Hcy levels were significantly higher than that of control and mild groups (p<0.001). By contrast, there was no significant difference in heterozygote MTHFR 677C/T and 1298A/C mutations, both MTHFR 677C/T and MTHFR 1298A/C mutations were more common in NAFLD groups compared with the control patients (p<0.001). We have determined increased Hcy levels and increased prevalence of homozygote MTHFR 677C/T and MTHFR 1298A/C mutations in patients with NAFLD compared with healthy controls. Larger studies are warranted to clarify the etiological role of the MTHFR mutations and Hcy levels in FLD.
authors.affiliation: Turgut Ozal University Medical School, Division of Gastroenterology, Ankara, Turkey benankasapoglu@hotmail.com.
authors.forename: Benan
authors.initials: B
authors.lastname: Kasapoglu
authors.affiliation: Turgut Ozal University Medical School, Division of Gastroenterology, Ankara, Turkey.
authors.forename: Cansel
authors.initials: C
authors.lastname: Turkay
authors.affiliation: Turgut Ozal University Medical School, Department of Internal Medicine, Ankara, Turkey.
authors.forename: Kadir Serkan
authors.initials: KS
authors.lastname: Yalcin
authors.affiliation: Turgut Ozal University Medical School, Division of Hematology, Ankara, Turkey.
authors.forename: Ali
authors.initials: A
authors.lastname: Kosar
authors.affiliation: Turgut Ozal University Medical School, Division of Radiology, Ankara, Turkey.
authors.forename: Alper
authors.initials: A
authors.lastname: Bozkurt
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005260:Female; D005492:Folic Acid / Q000097:blood; D020022:Genetic Predisposition to Disease; D006710:Homocysteine / Q000097:blood; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D065626:Non-alcoholic Fatty Liver Disease / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D014805:Vitamin B 12 / Q000097:blood
chemical_list: D006710:Homocysteine; D005492:Folic Acid; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D014805:Vitamin B 12
keywords: MTHFR mutations; fatty liver disease; homocysteine