Variant mannose-binding lectin alleles are associated with celiac disease
| Autor: | V. Baldas, Antonio Amoroso, Tarcisio Not, Sergio Crovella, Alberto Tommasini, Andrea Spanò, Michele Boniotto, Chiara Trevisiol, Laura Braida, Doroti Pirulli |
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| Přispěvatelé: | Boniotto, M, Braida, L, Spano, A, Pirulli, D, Baldas, V, Trevisiol, C, Not, Tarcisio, Tommasini, A, Amoroso, A, Crovella, Sergio |
| Jazyk: | angličtina |
| Rok vydání: | 2002 |
| Předmět: |
Genotype
Tissue transglutaminase Immunology Alleles Celiac Disease Gene Frequency Genetic Predisposition to Disease Humans Mannose-Binding Lectin Point Mutation Apoptosis Autoimmunity Biology medicine.disease_cause Celiac disease MBL2 polymorphisms Genetics Biopsy medicine Allele Allele frequency Mannan-binding lectin medicine.diagnostic_test nutritional and metabolic diseases digestive system diseases biology.protein Antibody Human |
| Popis: | In this study, we investigated the role of mannose-binding lectin (MBL) in celiac disease, by performing genotype analysis for the three point mutations in the first exon of the gene in 117 Italian celiac patients (characterized by flat biopsy and positive for anti-endomysium antibody and human transglutaminase antibodies) and 130 pan-ethnic healthy controls. The frequency of homozygous mutant 0/ 0 was significantly higher in the 117 Italian celiac patients (0.13) than in the 130 pan-ethnic healthy controls (0.05; P=0.0405). An increased frequency of homozygous 0/0 allele was found among patients with celiac disease compared with controls. These results suggest an involvement of MBL in the pathophysiology of celiac disease. |
| Databáze: | OpenAIRE |
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