| Autor: |
Mrazek, F., Holla, L.I., Hutyrova, B., Znojil, V., Vasku, A., Kolek, V., Welsh, K.I., Vacha, J., du Bois, R.M., Petrek, M. |
| Předmět: |
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| Zdroj: |
Tissue Antigens; Feb2005, Vol. 65 Issue 2, p163-171, 9p |
| Abstrakt: |
Sarcoidosis is a granulomatous disorder showing a clear association with MHC (HLA) class I and class II genes. In order to investigate whether polymorphisms of nearby pro-inflammatory genes located within the MHC class III region may also contribute to susceptibility to sarcoidosis or to its clinical manifestation, tumour necrosis factor-α (TNF-α) and lymphotoxin-α (LT-α) genes were chosen for analysis in a case-control association study. In order to evaluate the findings on the TNF-α and LT-α genes in connection with the closely linked MHC class II region,‘classical’ HLA-DRB1 locus was also investigated. Polymerase chain reaction-based methodologies were used in order to characterize two single-nucleotide polymorphisms (TNF-308*G/A and LTΑ+252*A/G) and HLA-DRB1 allele groups in 114 Czech patients with pulmonary sarcoidosis and 425 healthy controls. LTA+252*G and HLA-DRB1*13 allele carriers were more frequent in patients, compared to those in controls. By contrast, HLA-DRB1*07 carriers were less frequent among sarcoidosis patients. The overrepresentation of TNF-308*A, LTΑ+252*G and HLA-DRB1*03 allele carriers was found in a subgroup of sarcoidosis patients presenting with Löfgren's syndrome (LS) by comparison with the subgroup of patients without LS (NLS; phenotype frequency LSvsNLS: 68.8vs37.1% for TNF-308*A, 93.8vs66.3% for LTA+252*G and 68.8vs21.3% for DRB1*03). The data suggest that the LTΑ and HLA-DRB1 genes themselves or a gene located nearby contributes to the susceptibility to sarcoidosis and that TNF-308*A, LTA+252*G and HLA-DRB1*03 alleles are associated (directly or via linkage with unknown causative locus) with LS as a specific manifestation of the disease. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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