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

Çolak Y., Coskunpınar E. M., Senates E., Oltulu Y. M., Yaylim I., Gomleksiz O. K., ...More

META GENE, vol.18, pp.46-52, 2018 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 18
  • Publication Date: 2018
  • Doi Number: 10.1016/j.mgene.2018.07.006
  • Journal Name: META GENE
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus
  • Page Numbers: pp.46-52
  • Istanbul University Affiliated: Yes


Despite 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, there was no significant correlation between serum FDFT1 mRNA expression and histological parameters in patients with NAFLD while it was significantly higher in patients with NAFLD in comparison to the healthy controls. The expression and variants of FDFT1 gene should be investigated in larger populations and different ethnic groups in order to clarify their impact on NAFLD pathogenesis.