Novel association of HLA-haplotypes with primary sclerosing cholangitis (PSC) in a southern European population
| Autor: | Mario Strazzabosco, Giulia Martina Cavestro, Massimo Colombo, M. Savi, Lajos Okolicsanyi, P. Seghini, Massimo Zuin, Tauro Maria Neri, G. Bianchi Porro, Mauro Podda, Floriano Rosina, Adele Zanetti, P. Zanelli, Annarosa Floreani |
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| Přispěvatelé: | Neri, T, Cavestro, G, Seghini, P, Zanelli, P, Zanetti, A, Savi, M, Podda, M, Zuin, M, Colombo, M, Floreani, A, Rosina, F, Bianchi Porro, G, Strazzabosco, M, Okolicsanyi, L, Neri, Tm, Cavestro, GIULIA MARTINA, Zanelli, Pf, Okolicsanyi, L. |
| Rok vydání: | 2003 |
| Předmět: |
Adult
Male Genotype Cholangitis Sclerosing Population Cystic Fibrosis Transmembrane Conductance Regulator Human leukocyte antigen Major histocompatibility complex Primary sclerosing cholangitis Gene Frequency MED/12 - GASTROENTEROLOGIA HLA-DQ Antigens medicine Humans Allele education Allele frequency Gene Genetics education.field_of_study Polymorphism Genetic Hepatology biology Tumor Necrosis Factor-alpha Homozygote Gastroenterology HLA-DR Antigens Middle Aged medicine.disease Cystic fibrosis transmembrane conductance regulator Genetics Population Haplotypes Italy HLA-B Antigens Case-Control Studies Immunology biology.protein Female primary sclerosing cholangitis liver inflammation fibrosis |
| Zdroj: | Digestive and Liver Disease. 35:571-576 |
| ISSN: | 1590-8658 |
| Popis: | AIMS: In patients with with primary sclerosing cholangitis we investigated the major histocompatibility complex (MHC) genes and mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. METHODS: In 64 PSC patients and 183 normal controls of the same population (Northern Italy), allelic polymorphisms at the DNA level were investigated in MHC region genes: HLA-DRB1, HLA-DQB1 and HLA-B, tumour necrosis factor A (TNFA), and in CFTR gene, with polymerase chain reaction-based methodologies. RESULTS: Frequencies of DRB1*01, DQA1*0101, DQB1*0102 (14 vs. 8%, p |
| Databáze: | OpenAIRE |
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