Nascency of Physiopathological Activation by The Effect of Genomic Single Nucleotide Exchange Factor in The PNPLA3 rs738409 Genotype of Patients with Hepatocellular Carcinoma

Abstract

Background Patatin-like Phospholipase Domain-Containing 3 (PNPLA3) rs738409 is a genetic variant that is associated with an increased risk of developing hepatocellular carcinoma (HCC) in patients with chronic liver disease. This functional mechanism may cause liver cancer by altering protein function without affecting gene expression. Our aim in this study is to investigate the potential effect of PNPLA3 polymorphism on HCC development and to report its results. Material and Methodology A case-control study was designed involving 224 diagnosed and pathologically confirmed patients with HCC. Four groups were formed as ([HBV] n = 110, [HCV] n = 38, [other etiologies] n = 76) and 62 healthy controls. PNPLA3 genotyping in patients diagnosed with HCC was concluded by DNA isolation from blood samples. PNPLA3 rs738409 variant was genotyped in RT PCR device with Taq Man allelic separation test designed by the manufacturers according to protocols. The C nucleotide and G nucleotide were detected in VIC; FAM hydrolysis probes were used for genotyping and binding. SPSS program was used for statistical analysis. Results The PNPLA3 genotypes were determined for the groups of HBV-related HCC, HCV-related HCC, other etiologies-related HCC, and control. The HBV-related HCC group had CC (n = 58), CG (n = 36), and GG (n = 16) genotypes. The HCV-related HCC group had CC (n = 22), CG (n = 9), and GG (n = 7) genotypes. The other etiologies-related HCC group had CC (n = 35), CG (n = 26), and GG (n = 15) genotypes. The control group had CC (n = 36), CG (n = 13), and GG (n = 13) genotypes. Conclusions PNPLA3 rs738409 is an inherited risk factor for HCC development in chronic liver disease. Our study found that the GG genotype can directly activate liver cancer in other etiology groups. According to our findings, we think that PNPLA3 polymorphism can be used as a biomarker in the development of HCC due to other etiologies group.

Keywords

• Adiponutrin
• Chronic Liver Disease
• Cirrhosis
• Genetic
• Genotyping

Ethical Statement

Ethics Committee approval was received at the Local Ethics Committee, Cukurova University Balcalı Hospital Faculty of Medicine Ethics Committee, dated 08.03.2024, meeting number: 142.

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