Cystic fibrosis conductance regulator, tumor necrosis factor, interferon alpha-10, interferon alpha-17, and interferon gamma genotyping as potential risk markers in pulmonary sarcoidosis pathogenesis in Greek patients.
Genet Test Mol Biomarkers
; 14(4): 577-84, 2010 Aug.
Article
en En
| MEDLINE
| ID: mdl-20722470
ABSTRACT
Sarcoidosis is a complex disease with autoimmune basis and still unknown etiology. We have screened for mutations in the cystic fibrosis conductance regulator (CFTR) gene and genotyped single-nucleotide polymorphisms in the tumor necrosis factor (TNF), interferon alpha-10 (IFNA10), IFNA17, and interferon gamma (IFNG) genes in 89 Greek patients with sarcoidosis and 212 control subjects to detect possible association between them and the risk for developing sarcoidosis. We have found a statistically significant increase (p = 6.1 x 10(-8)) of CFTR mutation carriers in the population of patients with sarcoidosis versus the control population. A difference was also noted within the group of patients with sarcoidosis where the ones with CFTR mutations suffered more frequently from dyspnea than those without (p = 5 x 10(-6)). Our study did not reproduce the associations previously noted with the TNF, IFNA10, IFNA17, and IFNG genes, which highlights the genetic complexity of the disorder and is in agreement with previous studies showing that CFTR might be an important factor in the clinical course of the disease.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Interferón gamma
/
Interferón-alfa
/
Sarcoidosis Pulmonar
/
Regulador de Conductancia de Transmembrana de Fibrosis Quística
/
Factores de Necrosis Tumoral
Tipo de estudio:
Etiology_studies
/
Observational_studies
Límite:
Adult
/
Humans
/
Middle aged
País/Región como asunto:
Europa
Idioma:
En
Revista:
Genet Test Mol Biomarkers
Asunto de la revista:
BIOLOGIA MOLECULAR
/
GENETICA
Año:
2010
Tipo del documento:
Article
País de afiliación:
Grecia