Polymorphisms of the immune response genes: selected biological, methodical and medical aspects.

Background: Variants of the immune response genes (IRG) are considered a potential source of interindividual differences in both innate and adaptive immune responses. A large number of gene polymorphisms have been reported as alternative forms of the IRG nucleotide sequence with important functional consequences for the structure/expression of immune response molecules. Accordingly, IRG polymorphisms are considered responsible for various monogenic diseases.

Protein levels of CC chemokine ligand (CCL)15, CCL16 and macrophage stimulating protein in patients with sarcoidosis.

The objective of this study was to assess protein levels for candidate cytokines, chemokines, growth factors, matrix metalloproteinases and their inhibitors in bronchoalveolar lavage fluid (BALF) in patients with polar forms of pulmonary sarcoidosis, i.e. Löfgren's syndrome (LS) and more advanced chest X-ray (CXR) stage III disease.

The CR1 C5507G polymorphism is not involved in susceptibility to idiopathic pulmonary fibrosis in two European populations.

Idiopathic pulmonary fibrosis (IPF), a severe lung disease with unknown aetiology, is thought to have an important genetic component. Single nucleotide polymorphism, C5507G, of the complement receptor 1 (CR1) gene, which affects the number of CR1 molecules on erythrocytes, has been associated with susceptibility to IPF in a single European population. To replicate this finding, 53 Czech IPF patients with 203 Czech healthy control subjects and 70 English IPF patients with 149 English controls were investigated.

Complement receptor 1 single nucleotide polymorphisms in Czech and Dutch patients with sarcoidosis.

A single nucleotide polymorphism (SNP) C5507G of the complement receptor 1 (CR1) gene has been associated with genetic susceptibility to sarcoidosis in an Italian population. In order to provide further data on the possible involvement of CR1 gene polymorphisms in sarcoidosis, CR1 SNPs C5507G and A3650G were investigated in Czech (n = 210) and Dutch (n = 116) patients with sarcoidosis with ethnically matched groups of healthy control subjects (Czech, n = 203; Dutch, n = 112). CR1 C5507G and A3650G SNPs were not associated with susceptibility to sarcoidosis or its clinical course.

Distribution of 22 cytokine gene polymorphisms in the healthy Czech population.

Cytokine gene polymorphisms (CGP) have been implicated in the pathogenesis of immune-mediated diseases including transplant complications via their effect on cytokine production and regulation. This study aimed to determine population frequencies of selected cytokine single nucleotide polymorphisms in the healthy Czech population and compare them with the data from other selected European populations. CGP were genotyped by polymerase chain reaction with sequence-specific primers (PCR-SSP) using the Heidelberg kit in 120 unrelated Czech healthy individuals.