Assessment of the rs2645424 C/T single nucleotide polymorphisms in the FDFT1 gene, hepatic expression, and serum concentration of the FDFT in patients with nonalcoholic fatty liver disease

Publication date: Available online 23 July 2018Source: Meta GeneAuthor(s): Yasar Colak, Ender M. Coskunpinar, Ebubekir Senates, Yasemin Musteri Oltulu, Ilhan Yaylim, Ozlem Kurnaz Gomleksiz, N. Ozan Tiryakioglu, Burcu Hasturk, Cumhur Gokhan Ekmekci, Hulya Yilmaz AydoganAbstractDespite being the most common chronic liver disease, the pathogenesis of nonalcoholic fatty liver disease (NAFLD) still remains unclear. According to the genome-wide association studies (GWAS) alternative alleles of the farnesyl-diphosphate farnesyltransferase 1 (FDFT1) gene involved in cholesterol biosynthetic pathway are known to affect hepatic squalene synthase (SQS or FDFT) expression. Recent studies have shown that the FDFT1 gene is associated with the clinical and histopathological characteristics of patients with NAFLD and thus is a candidate gene for NAFLD susceptibility. Our aim was to investigate the effect of rs2645424 C/T single nucleotide polymorphisms (SNPs) in NAFLD patients in the Turkish population. For this purpose, 64 Turkish NAFLD patients who underwent liver biopsy and 60 Turkish healthy control subjects were included in the study. We have evaluated the rs2645424 C/T SNPs genotypes (CC, wild type; CT, heterozygous; TT, mutant type) and the hepatic expression of the FDFT1 gene with real-time PCR and serum concentration of FDFT with ELISA method. The frequencies of the FDFT1 gene rs2645424, TT, CC and TC genotypes were the similar between patients with NAFLD and controls. Additionally,...
Source: Meta Gene - Category: Genetics & Stem Cells Source Type: research