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CC chemokine receptor gene polymorphisms in Czech patients with pulmonary sarcoidosis

Petrek, M., Drabek, J., Kolek, V., Zlamal, J., Welsh, K.I., Bunce, M., Weigl, E. and Du Bois, R. (2000) CC chemokine receptor gene polymorphisms in Czech patients with pulmonary sarcoidosis. American Journal of Respiratory and Critical Care Medicine, 162 (3). pp. 1000-1003.


Genes for the chemokine receptors CCR5 and CCR2 are characterized by polymorphisms resulting in a nonfunctional receptor expression. Ligands for CCR2 and CCR5 (chemokines monocyte chemotactic protein-1 [MCP-1] and RANTES) are implicated in the pathogenesis of sarcoidosis. We have, therefore, analyzed polymorphisms of CCR5 (32-bp deletion in CCR5 gene [Delta 32]) and of CCR2 (replacement of valine by isoleucine in CCR2 gene [64I]) in 66 Czech patients with sarcoidosis in comparison with a representative sample of Czech normal population. The frequencies of CCR5Delta 32 and CCR2-64I polymorphisms in patients with sarcoidosis were different from that in control subjects. CCR5Delta 32 allelic frequency was significantly increased in patients. By contrast, the CCR2-64I allele was more frequent in control subjects; however, the difference did not attain significance. Interestingly, the CCR5Delta 32 allele was associated with clinically more apparent disease: it was present in 39.1% of patients requiring corticosteroids but only in 16.7% patients who did not need therapeutic intervention (odds ratio [OR] = 2.9). When patients requiring corticosteroids were compared with control subjects, the differences in the CCR5Delta 32 frequencies were enhanced (p < 0.01). In conclusion, the observed association of CCR5Delta 32 and CCR2-64I with sarcoidosis implicates a role for these polymorphisms in disease susceptibility and protection.

Item Type: Journal Article
Publisher: American Thoracic Society
Copyright: 2000 American Thoracic Society
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