The impact of polymorphism in PNPLA3 and TM6SF2 genes on the susceptibility and survival of hepatitis C-related hepatocellular carcinoma
Abstract Background Genetic variants of Patatin-like phospholipase domain-containing protein 3 (PNPLA3) and transmembrane 6 superfamily member 2 (TM6SF2) genes have been reported with the development of hepatocellular carcinoma (HCC). This study aims to explore the role of The PNPLA3 rs738409 and TM...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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SpringerOpen
2022-09-01
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| Series: | Egyptian Liver Journal |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43066-022-00212-0 |
| _version_ | 1818016675501441024 |
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| author | Samar Samir Youssef Eman Abd El Razek Abbas Asmaa M. Elfiky Sameh Seif Mohamed Mahmoud Nabeel Hend Ibrahim Shousha Ashraf Omar Abdelaziz |
| author_facet | Samar Samir Youssef Eman Abd El Razek Abbas Asmaa M. Elfiky Sameh Seif Mohamed Mahmoud Nabeel Hend Ibrahim Shousha Ashraf Omar Abdelaziz |
| author_sort | Samar Samir Youssef |
| collection | DOAJ |
| description | Abstract Background Genetic variants of Patatin-like phospholipase domain-containing protein 3 (PNPLA3) and transmembrane 6 superfamily member 2 (TM6SF2) genes have been reported with the development of hepatocellular carcinoma (HCC). This study aims to explore the role of The PNPLA3 rs738409 and TM6SF2 rs58542926 single-nucleotide polymorphisms (SNPs) on the incidence and survival of HCV-induced HCC in Egyptians. Methods and results This case-control study included (120) HCC and (144) hepatitis C virus (HCV) patients. Baseline clinical, laboratory, tumor characteristics data, HCC recurrence, and overall survival were collected. PNPLA3 rs738409 and TM6SF2 rs58542926 polymorphism were detected by TaqMan allelic discrimination assay. We found that HCC patients were significantly older with male predominance. A significant difference between the TT genotypes of TM6SF2 frequency was observed in HCC compared with HCV patients. Moreover, the T allele of TM6SF2 distributions revealed a significant contribution to the different stages of HCC (p=0.03). Both PNPLA3 rs738409 and TM6SF2 rs58542926 variants showed a significant relation with treatment response according to the modified RECIST criteria. Age and diabetes mellitus were the independent factors associated with the development of HCC by multivariate regression analysis. Conclusions TM6SF2 rs58542926 polymorphism, not PNPLA3 rs738409, could be implicated in the development of HCV-induced HCC and its progression. |
| first_indexed | 2024-04-14T07:16:45Z |
| format | Article |
| id | doaj.art-78bb3a7b55b34047be10f1462646e4b8 |
| institution | Directory Open Access Journal |
| issn | 2090-6226 |
| language | English |
| last_indexed | 2024-04-14T07:16:45Z |
| publishDate | 2022-09-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Egyptian Liver Journal |
| spelling | doaj.art-78bb3a7b55b34047be10f1462646e4b82022-12-22T02:06:17ZengSpringerOpenEgyptian Liver Journal2090-62262022-09-0112111210.1186/s43066-022-00212-0The impact of polymorphism in PNPLA3 and TM6SF2 genes on the susceptibility and survival of hepatitis C-related hepatocellular carcinomaSamar Samir Youssef0Eman Abd El Razek Abbas1Asmaa M. Elfiky2Sameh Seif3Mohamed Mahmoud Nabeel4Hend Ibrahim Shousha5Ashraf Omar Abdelaziz6Microbial Biotechnology Department, National Research CentreMicrobial Biotechnology Department, National Research CentreEnvironmental and Occupational Medicine Department, National Research CentreNational Hepatology and Tropical Medicine Research InstituteEndemic medicine and Hepato-gastroenterology Department, Faculty of Medicine, Cairo UniversityEndemic medicine and Hepato-gastroenterology Department, Faculty of Medicine, Cairo UniversityEndemic medicine and Hepato-gastroenterology Department, Faculty of Medicine, Cairo UniversityAbstract Background Genetic variants of Patatin-like phospholipase domain-containing protein 3 (PNPLA3) and transmembrane 6 superfamily member 2 (TM6SF2) genes have been reported with the development of hepatocellular carcinoma (HCC). This study aims to explore the role of The PNPLA3 rs738409 and TM6SF2 rs58542926 single-nucleotide polymorphisms (SNPs) on the incidence and survival of HCV-induced HCC in Egyptians. Methods and results This case-control study included (120) HCC and (144) hepatitis C virus (HCV) patients. Baseline clinical, laboratory, tumor characteristics data, HCC recurrence, and overall survival were collected. PNPLA3 rs738409 and TM6SF2 rs58542926 polymorphism were detected by TaqMan allelic discrimination assay. We found that HCC patients were significantly older with male predominance. A significant difference between the TT genotypes of TM6SF2 frequency was observed in HCC compared with HCV patients. Moreover, the T allele of TM6SF2 distributions revealed a significant contribution to the different stages of HCC (p=0.03). Both PNPLA3 rs738409 and TM6SF2 rs58542926 variants showed a significant relation with treatment response according to the modified RECIST criteria. Age and diabetes mellitus were the independent factors associated with the development of HCC by multivariate regression analysis. Conclusions TM6SF2 rs58542926 polymorphism, not PNPLA3 rs738409, could be implicated in the development of HCV-induced HCC and its progression.https://doi.org/10.1186/s43066-022-00212-0Hepatocellular carcinoma (HCC)PNPLA3TM6SF2Single-nucleotide polymorphismChronic hepatitis C |
| spellingShingle | Samar Samir Youssef Eman Abd El Razek Abbas Asmaa M. Elfiky Sameh Seif Mohamed Mahmoud Nabeel Hend Ibrahim Shousha Ashraf Omar Abdelaziz The impact of polymorphism in PNPLA3 and TM6SF2 genes on the susceptibility and survival of hepatitis C-related hepatocellular carcinoma Egyptian Liver Journal Hepatocellular carcinoma (HCC) PNPLA3 TM6SF2 Single-nucleotide polymorphism Chronic hepatitis C |
| title | The impact of polymorphism in PNPLA3 and TM6SF2 genes on the susceptibility and survival of hepatitis C-related hepatocellular carcinoma |
| title_full | The impact of polymorphism in PNPLA3 and TM6SF2 genes on the susceptibility and survival of hepatitis C-related hepatocellular carcinoma |
| title_fullStr | The impact of polymorphism in PNPLA3 and TM6SF2 genes on the susceptibility and survival of hepatitis C-related hepatocellular carcinoma |
| title_full_unstemmed | The impact of polymorphism in PNPLA3 and TM6SF2 genes on the susceptibility and survival of hepatitis C-related hepatocellular carcinoma |
| title_short | The impact of polymorphism in PNPLA3 and TM6SF2 genes on the susceptibility and survival of hepatitis C-related hepatocellular carcinoma |
| title_sort | impact of polymorphism in pnpla3 and tm6sf2 genes on the susceptibility and survival of hepatitis c related hepatocellular carcinoma |
| topic | Hepatocellular carcinoma (HCC) PNPLA3 TM6SF2 Single-nucleotide polymorphism Chronic hepatitis C |
| url | https://doi.org/10.1186/s43066-022-00212-0 |
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