Association of PNPLA3 Gene Polymorphisms with the Development and Progression of Hepatocellular Carcinoma in Egyptian patients

ABDELSALAM, HAZEM; Sakr, Moustafa; elmasry, samir; Abied, Mohamed; badra, gamal

doi:10.21608/rjab.2024.254219.1047

	Association of PNPLA3 Gene Polymorphisms with the Development and Progression of Hepatocellular Carcinoma in Egyptian patients"
Research Journal of Applied Biotechnology
Article 1, Volume 11, Issue 1, June 2025, Page 1-12 PDF (432.71 K)
Document Type: Original Article
DOI: 10.21608/rjab.2024.254219.1047
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Authors
HAZEM ABDELSALAM¹; Moustafa Sakr ²; samir elmasry¹; Mohamed Abied¹; gamal badra³
¹Molecular diagnostics and therapeutics department, Genetic Engineering and Biotechnology Research Institute (GEBRI), University of Sadat City, Egypt
²Molecular Biology Department, Genetic Engineering and Biotechnology Research Institute, University of Sadat City.
³Tropical Medicine, National Liver Institute, Faculty of Medicine, Menufyia University
Abstract
TThis study aimed to examine the relationship between hepatocellular carcinoma (HCC) susceptibility and two single nucleotide polymorphisms (SNPs) of PNPLA3: rs738409 C > G and rs3747207 G > A. An investigation was carried out on a case-control group of 47 patients with hepatocellular carcinoma (HCC)—20 females and 27 males—with a mean age of 60.62 ± 8.06 years. The control group was made up of 47 volunteers who were in good health and had unrelated, healthy blood donors. They do not suffer from any long-term illnesses and are often recruited. based on the Hardy-Weinberg equilibrium standards. In patients with HCC, the frequency of PNPLA3 rs738409C/G polymorphism was determined to be 23 (48.9%) CC, 22 (46.8%) CG, and 2 (4.3%) GC; in contrast, the control group had 22 (46.8%) CC, 21 (44.7%) CG, and 4 (8.5%) GG [P<0.05]. No statistically significant association was discovered between the PNPLA3 rs738409C/G allele or genotype frequency with the risk of HCC. In contrast, the genotype frequencies of PNPLA3 rs738407A/G I148M in the HCC group were 8 (17.0%) GG, 30 (63.81%) GA, and 9 (19.1%) AA, while control group consisted of 20 (42.6%) GG, 25 (53.2%) GA, and 2 (4.3%) AA. In the total samples, there was a statistically significant positive connection between the risk of HCC and the AA genotype and the A allele. In conclusion, our study suggested that the PNPLA3 rs738407 (GG) genotype and A allele were risk factors for HCC patients.
Keywords
Keywords: PNPLA3; Polymorphism; HCC; Susceptibility; Egyptian population


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Association of PNPLA3 Gene Polymorphisms with the Development and Progression of Hepatocellular Carcinoma in Egyptian patients"