The hepatocyte nuclear factor 1 homeobox A (HNF1A) gene polymorphism and AFP serum levels in Egyptian HCC patients
Abstract Background Hepatocyte nuclear factors were first identified as liver-enriched transcription factors that might participate in various activities related to the transcription of genes unique to the liver. Objective The study aimed to reveal the impact of HNF1A gene variations on disease prog...
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SpringerOpen
2024-12-01
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| Series: | Egyptian Liver Journal |
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| Online Access: | https://doi.org/10.1186/s43066-024-00392-x |
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| author | Hanan M. Bedair Ibrahim El-Tantawy El Sayed Olfat M. Hendy Mohmed Abdel-Samiee Islam Abd El Hamid El Sayad Sally S. Mandour |
| author_facet | Hanan M. Bedair Ibrahim El-Tantawy El Sayed Olfat M. Hendy Mohmed Abdel-Samiee Islam Abd El Hamid El Sayad Sally S. Mandour |
| author_sort | Hanan M. Bedair |
| collection | DOAJ |
| description | Abstract Background Hepatocyte nuclear factors were first identified as liver-enriched transcription factors that might participate in various activities related to the transcription of genes unique to the liver. Objective The study aimed to reveal the impact of HNF1A gene variations on disease progression in hepatocellular carcinoma (HCC) patients and its relation to serum alpha-fetoprotein level. Methods Participants in the study were classified as Group I, 32 HCC patients; Group II, 36 chronic hepatitis C patients; and Group III, 26 healthy volunteers as a control group. Each patient underwent full history taking, thorough clinical examination, and radiological examination. Furthermore, tumor staging was done using BCLC staging system. HNF1A gene polymorphisms (rs 2,464,196 and rs 1,169,310) were genotyped by real-time PCR. Results The findings revealed the highest frequency of AA and GA genotypes of HNF1A (rs2464196) polymorphism in both HCC (P = 0.002) and chronic HCV (P = 0.004) patients in comparison with controls. Regarding rs1169310gene polymorphism, no significant variation was observed across various genotypes when comparing the experimental groups to the control group. Additionally, HCC patients harboring the AA genotype for rs2464196 had significantly increased AFP (≥ 200 ng/ml) levels, whereas HCC patients with rs1169310 SNPs for HNF1A had no significant association regarding the AFP level. Conclusion The rs2464196 polymorphism of HNF1 is associated with increased AFP levels and HCC disease progression, which may be a prognostic and diagnostic genetic indicator. |
| format | Article |
| id | doaj-art-f781a36c53e94a2a8bbf7c31fcb0378e |
| institution | Kabale University |
| issn | 2090-6226 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Egyptian Liver Journal |
| spelling | doaj-art-f781a36c53e94a2a8bbf7c31fcb0378e2024-12-22T12:16:00ZengSpringerOpenEgyptian Liver Journal2090-62262024-12-0114111210.1186/s43066-024-00392-xThe hepatocyte nuclear factor 1 homeobox A (HNF1A) gene polymorphism and AFP serum levels in Egyptian HCC patientsHanan M. Bedair0Ibrahim El-Tantawy El Sayed1Olfat M. Hendy2Mohmed Abdel-Samiee3Islam Abd El Hamid El Sayad4Sally S. Mandour5Clinical Pathology Department, National Liver Institute, Menoufia UniversityDepartment of chemistry, Faculty of Science, Menoufia UniversityClinical Pathology Department, National Liver Institute, Menoufia UniversityHepatology and Gastroenterology Department, National Liver Institute, Menoufia UniversityDepartment of chemistry, Faculty of Science, Menoufia UniversityClinical Pathology Department, National Liver Institute, Menoufia UniversityAbstract Background Hepatocyte nuclear factors were first identified as liver-enriched transcription factors that might participate in various activities related to the transcription of genes unique to the liver. Objective The study aimed to reveal the impact of HNF1A gene variations on disease progression in hepatocellular carcinoma (HCC) patients and its relation to serum alpha-fetoprotein level. Methods Participants in the study were classified as Group I, 32 HCC patients; Group II, 36 chronic hepatitis C patients; and Group III, 26 healthy volunteers as a control group. Each patient underwent full history taking, thorough clinical examination, and radiological examination. Furthermore, tumor staging was done using BCLC staging system. HNF1A gene polymorphisms (rs 2,464,196 and rs 1,169,310) were genotyped by real-time PCR. Results The findings revealed the highest frequency of AA and GA genotypes of HNF1A (rs2464196) polymorphism in both HCC (P = 0.002) and chronic HCV (P = 0.004) patients in comparison with controls. Regarding rs1169310gene polymorphism, no significant variation was observed across various genotypes when comparing the experimental groups to the control group. Additionally, HCC patients harboring the AA genotype for rs2464196 had significantly increased AFP (≥ 200 ng/ml) levels, whereas HCC patients with rs1169310 SNPs for HNF1A had no significant association regarding the AFP level. Conclusion The rs2464196 polymorphism of HNF1 is associated with increased AFP levels and HCC disease progression, which may be a prognostic and diagnostic genetic indicator.https://doi.org/10.1186/s43066-024-00392-xHepatocyte nuclear factors (HNFs)HNF1AGene polymorphism; HCCCHCAFP |
| spellingShingle | Hanan M. Bedair Ibrahim El-Tantawy El Sayed Olfat M. Hendy Mohmed Abdel-Samiee Islam Abd El Hamid El Sayad Sally S. Mandour The hepatocyte nuclear factor 1 homeobox A (HNF1A) gene polymorphism and AFP serum levels in Egyptian HCC patients Egyptian Liver Journal Hepatocyte nuclear factors (HNFs) HNF1A Gene polymorphism; HCC CHC AFP |
| title | The hepatocyte nuclear factor 1 homeobox A (HNF1A) gene polymorphism and AFP serum levels in Egyptian HCC patients |
| title_full | The hepatocyte nuclear factor 1 homeobox A (HNF1A) gene polymorphism and AFP serum levels in Egyptian HCC patients |
| title_fullStr | The hepatocyte nuclear factor 1 homeobox A (HNF1A) gene polymorphism and AFP serum levels in Egyptian HCC patients |
| title_full_unstemmed | The hepatocyte nuclear factor 1 homeobox A (HNF1A) gene polymorphism and AFP serum levels in Egyptian HCC patients |
| title_short | The hepatocyte nuclear factor 1 homeobox A (HNF1A) gene polymorphism and AFP serum levels in Egyptian HCC patients |
| title_sort | hepatocyte nuclear factor 1 homeobox a hnf1a gene polymorphism and afp serum levels in egyptian hcc patients |
| topic | Hepatocyte nuclear factors (HNFs) HNF1A Gene polymorphism; HCC CHC AFP |
| url | https://doi.org/10.1186/s43066-024-00392-x |
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