TY - JOUR T1 - <em>MTHFR</em> 677C/T and 1298A/C mutations and non-alcoholic fatty liver disease JF - Clinical Medicine JO - Clin Med SP - 248 LP - 251 DO - 10.7861/clinmedicine.15-3-248 VL - 15 IS - 3 AU - Benan Kasapoglu AU - Cansel Turkay AU - Kadir Serkan Yalcin AU - Ali Kosar AU - Alper Bozkurt Y1 - 2015/06/01 UR - http://www.rcpjournals.org/content/15/3/248.abstract N2 - 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&lt;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&lt;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. ER -