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Article Type

Original Study

Abstract

Objective The aim of the present study was to verify whether the rs738409C/G single nucleotide polymorphism of patatin-like phospholipase 3 (PNPLA3) gene may be associated with cirrhosis and hepatocellular carcinoma (HCC) complicating cirrhosis. Background PNPLA3 gene encodes a 481-amino acid protein of unknown function that belongs to the patatin-like phospholipase domain-containing family. PNPLA3 rs738409 polymorphism could be a risk factor for the development of HCC in cirrhosis patients. Subjects and methods This study included 50 individuals divided into three groups: group 1 (control group) included 10 apparently healthy age and sex-matched subjects; group 2 (cirrhosis group) included 20 patients diagnosed with cirrhosis and positive antihepatitis C virus (HCV) antibodies; and group 3 (HCC group) included 20 HCC patients. Liver function tests, viral markers, α-feto protein, and HCV RNA by using PCR were carried out for all participants. They were genotyped for PNPLA3 C>G polymorphism using PCR. Results There was significant difference in genotype distribution between the control and the HCC group [CG vs. CC: P = 0.01; odds ratio (OR)=18, 95% confidence interval (CI): 2.04–159.1, GG vs. CC: P = 002). OR showed that GG genotype was riskier than the CC 'reference group' by 18 (95% CI: 2.04–159.1). There was significant difference in the distribution of both alleles (C and G) between the two groups (P = 0.00). OR showed that G allele was riskier than C allele by 18.69 (95% CI: 3.76–92.9). There was significant difference in GG genotype distribution between the cirrhosis and the HCC group (GG vs. CC: P = 0.02; OR = 13.5, 95% CI: 1.80–101.1). OR showed that GG genotype was riskier than the CC 'reference group' by 5.06 (95% CI: 0.83–11.02). There were significant differences in the distribution of both alleles (C and G) between the two groups (P = 0.007). OR showed that G allele was riskier than C allele by 3.86 (95% CI: 1.53–9.75). Conclusion PNPLA3 rs738409 C>G polymorphism was associated with HCC in HCV cirrhotic patients.

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