Prevalence of Common HFE and SERPINA1 Mutations in Patients with Hepatocellular Carcinoma in a Moroccan Population
| Autor: | Latifa El Kihal, Rajae Afifi, Mohammed Hassar, Pascal Pineau, M. Benazzouz, Sayeh Ezzikouri, Abdellah Essaid El Feydi, Abdelaziz Chafik, Soumaya Benjelloun |
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| Přispěvatelé: | Institut Pasteur du Maroc, Réseau International des Instituts Pasteur (RIIP), CHU Ibn-Sina [Rabat] (CHUIS), Laboratoire d'Anthropogénétique et Biostatistique [El Jadida, Maroc], Faculté des Sciences [El Jadida. Maroc], Université Chouaib Doukkali (UCD)-Université Chouaib Doukkali (UCD), Organisation Nucléaire et Oncogenèse, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), We thank the Direction des Programmes Transversaux de Recherches of the Institut Pasteur, Paris for their financial support (PTR n° 130)., The authors would like to acknowledge all patients for their participation in this study, We are particularly grateful to Benoit Robert and Michele Joliy for their advice and encouragement. We also thank Nathalie Jolly and Christine Sadorge for their skillful expertise in Medical Research Protocol elaboration, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM) |
| Jazyk: | angličtina |
| Rok vydání: | 2008 |
| Předmět: |
Male
Pathology Hepatocellular carcinoma MESH: Membrane Proteins / genetics medicine.disease_cause Gastroenterology Loss of heterozygosity 0302 clinical medicine Prevalence MESH: Liver Neoplasms / genetics MESH: Hemochromatosis Protein MESH: Heterozygote MESH: Aged 0303 health sciences Mutation education.field_of_study MESH: Middle Aged Homozygote Liver Neoplasms General Medicine Middle Aged Arabs 3. Good health MESH: Mutation Missense Morocco 030220 oncology & carcinogenesis Hereditary hemochromatosis Female MESH: Histocompatibility Antigens Class I / genetics MESH: Alleles MESH: Homozygote Heterozygote medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities MESH: Carcinoma Hepatocellular / epidemiology Carcinoma Hepatocellular Population Mutation Missense [SDV.CAN]Life Sciences [q-bio]/Cancer Z mutation 03 medical and health sciences Internal medicine medicine Humans Genetic Predisposition to Disease In patient MESH: Genetic Predisposition to Disease / genetics Allele Hemochromatosis Protein education Allele frequency Alleles MESH: Prevalence Aged Retrospective Studies 030304 developmental biology HFE mutations MESH: Humans business.industry Histocompatibility Antigens Class I MESH: alpha 1-Antitrypsin / genetics MESH: Carcinoma Hepatocellular / genetics Membrane Proteins nutritional and metabolic diseases MESH: Retrospective Studies [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology medicine.disease S mutation MESH: Male [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics alpha 1-Antitrypsin MESH: Liver Neoplasms / epidemiology MESH: Morocco MESH: Arabs business MESH: Female |
| Zdroj: | Archives of Medical Research Archives of Medical Research, Elsevier, 2008, 39 (2), pp.236-241. ⟨10.1016/j.arcmed.2007.09.006⟩ Archives of Medical Research, 2008, 39 (2), pp.236-241. ⟨10.1016/j.arcmed.2007.09.006⟩ |
| ISSN: | 0188-4409 |
| DOI: | 10.1016/j.arcmed.2007.09.006⟩ |
| Popis: | International audience; Background: Hereditary hemochromatosis and SERPINA1 mutation were reported to affect liver functions. Our objective was to estimate the prevalence of HFE and SERPINA1 (formerly known as alpha1-antitrypsin, AAT) mutations and assess their influence on hepatocellular carcinoma development.Methods: This study included 222 controls and 96 cases with hepatocellular carcinoma. PCR-RFLP was used to characterize S and Z alleles in SERPINA1, as well as C282Y/H63D alleles of HFE.Results: In healthy subjects and hepatocellular carcinoma patients as well, no homozygotes for the C282Y mutation were found. In controls, heterozygosity and homozygosity for the H63D mutation were 27 and 0.9%, respectively. Among patients, homozygosity for the H63D mutation was 3.1%, whereas heterozygosity for C282Y and H63D was 2.1 and 35.4%, respectively. Interestingly, albeit it does not reach significance (p=0.062), H63D was more prevalent in hepatocellular carcinoma patients than in controls (38.5 vs. 27.9%, respectively). The association was stronger when considering only male patients with hepatocellular carcinoma (47.1 vs. 23.6, p=0.001). Allele frequencies of S and Z in controls were 0.45% (95% CI=0.2-1.07) and 0.22% (95% CI=0.2-0.6), respectively, and 1 for S and 0% for Z in HCC. No significant difference was found between cases and controls.Conclusions: We provide a novel appraisal of HFE and SERPINA1 mutations prevalence in the Moroccan population. Results are consistent with the worldwide spread of the H63D and S mutation and the north European restriction of the C282Y and Z. Our results show that H63D carriage is increased among hepatocellular carcinoma patients, suggesting that it may confer an increased susceptibility to hepatocellular carcinoma even in a heterozygous state. On the contrary, HFE C282Y and SERPINA1 mutations do not contribute to hepatocellular carcinoma development. |
| Databáze: | OpenAIRE |
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