Association of Interleukin 4 (IL-4) -590 C/T and Cytotoxic T-Lymphocyte Associated Protein 4 (CTLA-4) +49 A/GGene Polymorphism withHepatocellular Carcinoma

Abstract

It is estimated that 257 million individuals worldwide have chronic HBV infection and that 20 million deaths between 2015 and 2030 will be attributable to acute hepatitis, chronic hepatitis, cirrhosis and HCC caused by HBV, with 5 million deaths from HCC alone, and is one of the most prevalent types of cancer in Pakistan. Cytotoxic T-cell receptor associated antigen 4 (CTLA-4) and Interleukin 4 (IL-4) have been found to be linked with a variety of cancers, including hepatocellular carcinoma. Prior studies have identified an association between a single nucleotide polymorphism (SNP) of CTLA-4 gene and IL-4 gene and an increased susceptibility to hepatocellular carcinoma, a relation which remains inexplicit amongst the population of Pakistan. This research focuses on the implication of CTLA-4 gene polymorphism and IL-4 gene polymorphism by determining the association of (CTLA-4) +49 A/G (rs231775) and -590 C/T (rs2243250)with hepatocellular carcinoma in Pakistan and conducting an expression analysis of the polymorphic genes. Samples were collected from hepatocellular carcinoma patients, followed by DNA extraction and PCR to analyze the allelic and genotypic frequency, followed by Tetra ARMS PCR for the expression analysis. The results of the SNP analysis identified a positive relationship between CTLA-4 +49 gene polymorphism and IL-4 -590 gene polymorphism and the risk of hepatocellular carcinoma in the Pakistani population.