Complement receptor 1 single nucleotide polymorphisms in Czech and Dutch patients with sarcoidosis
F Mrazek1, M Kvezereli, E Garr
1Immunology and Respiratory Medicine, Palacky University, Olomouc, Czech Republic.
Tissue Antigens
|November 15, 2007
Summary
Complement receptor 1 (CR1) gene single nucleotide polymorphisms (SNPs) C5507G and A3650G were not linked to sarcoidosis susceptibility or clinical course in Czech and Dutch populations. CR1 gene expression in bronchoalveolar lavage cells also showed no significant differences.
Area of Science:
- Immunogenetics
- Pulmonary Medicine
- Human Genetics
Background:
- Genetic factors are implicated in sarcoidosis susceptibility.
- Previous studies suggested a role for complement receptor 1 (CR1) gene polymorphisms in Italian sarcoidosis patients.
Purpose of the Study:
- To investigate the association of CR1 gene single nucleotide polymorphisms (SNPs) C5507G and A3650G with sarcoidosis in Czech and Dutch populations.
- To evaluate the relationship between CR1 gene polymorphisms and the clinical course of sarcoidosis.
- To assess CR1 gene expression in bronchoalveolar lavage (BAL) cells of sarcoidosis patients and healthy controls.
Main Methods:
- Genotyping of CR1 SNPs C5507G and A3650G in Czech (n=210) and Dutch (n=116) sarcoidosis patients and their respective controls (Czech n=203, Dutch n=112).
- Analysis of CR1 messenger RNA (mRNA) expression in BAL cells using quantitative reverse transcriptase-polymerase chain reaction (qRT-PCR).
Main Results:
- No significant association was found between CR1 C5507G and A3650G SNPs and susceptibility to sarcoidosis in either population.
- These CR1 gene polymorphisms were not associated with the clinical course of sarcoidosis.
- CR1 mRNA expression levels in BAL cells did not differ between sarcoidosis patients and control subjects.
- CR1 mRNA expression was not associated with the presence of the CR1 5507*G allele.
Conclusions:
- The investigated CR1 gene polymorphisms (C5507G and A3650G) are unlikely to play a significant role in sarcoidosis susceptibility or its clinical manifestations in Czech and Dutch populations.
- CR1 gene expression in BAL cells does not appear to be altered in sarcoidosis patients compared to controls.
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