Document Detail


Cytokine gene polymorphisms in sarcoidosis.
MedLine Citation:
PMID:  21086908     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Sarcoidosis is a disease characterized by granuloma formation in many organs, but mostly in lung and lymph nodes. The immunopathogenic background of the disease is probably based on disregulation of immune response to different antigens. The imbalance of immune reactivity might be influenced by genetic background. In our study, we have investigated cytokine genetic polymorphisms in sarcoidosis group and compared the results with that of a group of healthy volunteers.
METHODS: Thirty one sarcoidosis patients were enrolled to our study. Basic demographic data were collected. Polymorphisms in the promoter regions of the IL-1alpha, IL-1beta, IL-1R, IL-1RA, IL-2, IL-4, IL-6, IL-10, IL-12, TNF-alpha, IFN-gamma and in the translated regions of the TGF-beta, IL-1 beta, IL-2, IL-4 and IL-4RA genes were characterized.
RESULTS: For IL-10, the (-819) and (-592) CC homozygosity was statistically more frequent in the sarcoidosis group compared to healthy controls. According to the haplotypes, the majority of sarcoidosis patients had IL-10 (-1082)(-819)(-592) ACC haplotype 2 compared to controls with ATA in most of the cases.
CONCLUSIONS: The results of our study support the hypothesis of a genetically encoded immune regulation imbalance in sarcoidosis. The high-producer IL-10 (-819) and (-592) CC genotypes and intermediate- producer IL-10 (-1082) (-819) (-592) ACC haplotype 2 present in the majority of our sarcoidosis patients could support the role of genetically encoded disregulation of cell- mediated immune response to an unknown antigen.
Authors:
M Vasakova; M Sterclova; L Kolesar; A Slavcev; J Skibova; I Striz
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG / World Association of Sarcoidosis and Other Granulomatous Disorders     Volume:  27     ISSN:  1124-0490     ISO Abbreviation:  Sarcoidosis Vasc Diffuse Lung Dis     Publication Date:  2010 Jul 
Date Detail:
Created Date:  2010-11-19     Completed Date:  2010-12-15     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9610928     Medline TA:  Sarcoidosis Vasc Diffuse Lung Dis     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  70-5     Citation Subset:  IM    
Affiliation:
Department of Respiratory Diseases, 1st Medical School Charles University and University Thomayer Hospital Prague, Czech Republic. martina.vasakova@ftn.cz
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MeSH Terms
Descriptor/Qualifier:
Case-Control Studies
Chi-Square Distribution
Cytokines / genetics*
Czech Republic
European Continental Ancestry Group / genetics
Female
Gene Frequency
Genetic Predisposition to Disease
Haplotypes
Homozygote
Humans
Interleukin-10 / genetics
Male
Middle Aged
Phenotype
Polymorphism, Genetic*
Promoter Regions, Genetic
Sarcoidosis / ethnology,  genetics*,  immunology
Severity of Illness Index
Chemical
Reg. No./Substance:
0/Cytokines; 0/IL10 protein, human; 130068-27-8/Interleukin-10

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