Association between rs2303861 polymorphism in CD82 gene and non-alcoholic fatty liver disease: a preliminary case-control study

AIM: To investigate the genetic factors involved in the development of non-alcoholic fatty liver disease (NAFLD) and its sequelae in a Middle Eastern population. METHODS: This genetic case-control association study, conducted in 2018, enrolled 30 patients with NAFLD and 30 control individuals matched for age, sex, and body mass index. After quality control measures, entire exonic regions of 3654 genes associated with human diseases were sequenced. Allelic association test and enrichment analysis of the significant genetic variants were performed. RESULTS: The association analysis was conducted on 27 NAFLD patients and 28 controls. When Bonferroni correction was applied, NAFLD was significantly associated with rs2303861, a variant located in the CD82 gene (P=2.49×10-7, adjusted P=0.0059). When we used Benjamini-Hochberg adjustment for correction, NAFLD was significantly associated with six more variants. Enrichment analysis of the genes corresponding to all the seven variants showed significant enrichment for miR-193b-5p (P=0.00004, adjusted P=0.00922). CONCLUSION: A variant on CD82 gene and a miR-193b expression dysregulation may have a role in the development and progression of NAFLD and its sequelae.