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, Pages 1-12 PDF (432.71 K) | ||
| Document Type: Original Article | ||
| DOI: 10.21608/rjab.2024.254219.1047 | ||
| 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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