Asthma bronchiale je chronická zápalová choroba dýchacích ciest, ktorá sa klinicky prejavuje záchvatmi dýchavičnosti. Na vzniku astmy sa podiel'aju viaceré faktory, najma environmentálne a dědičné, avšak ich přesný mechanizmus pósobenia sa ešte stále študuje. V súvislosti s patogenézou astmy sa skúmajú aj geny umiestnené v HLA - genetickej oblasti. K takýmto génom sa nedávno zařadil aj gén kódujúci neklasickú molekulu HLA-G. Biologický význam HLA-G spočívá v potláčaní imunitnej odpovede a navodzovaní tolerancie. Na základe vyšetrenia sekvencie nukleotidov sa doteraz identifikovalo 47 róznych HLA-G aliel. Významný polymoďizmus zahřňa přítomnost' 14 nukleotidov na 3' konci genu HLA-G, ktorý ovplyvňuje stabilitu mRN A a pravděpodobné aj celkovú hladinu proteinu. V práci sme sa preto zamerali na analýzu přítomnosti tohto inzertu v gene HLA-G u pacientov s astmou. Celkovo sme vyšetřili 176 pacientov a 73 zdravých jedincov. Metodou PCR sme identifikovali jedincov s HLA-G genotypom „+14/+14" (19,89 % vs. 16,44 %), s genotypom „-14/-14" (29,55 % vs. 32,88 %) a heterozygotných jedincov s genotypom „+14/-14" (50,57 % vs. 50,68 %). V porovnaní s kontrolou, hladina preukaznosti/j nebola statisticky významná pri nijakej vyšetrovanej skupině, napriek tomu najváčší statistický rozdiel medzi skupinou pacientov a kontrolou sme zistili pri porovnávaní výskytu genotypu „+14/+14" (p = 0,5964).

Bronchial asthma is a chronic inflammatory disease of respiratory tract characterised by attacks of breathlessness. Many factors are involved in its development, including environmental and genetic factors; nevertheless the precise mechanisms of their contribution have not been completely elucidated until now. In relation to the pathogenesis of asthma, genes located in the HLA region have been intensively studied for many years, including HLA-G. The main biological function of HLA-G includes the participation in the tolerance induction. Similarly to other HLA genes, HLA-G is polymorphic too. By nucleotide sequence analysis 47 various HLA-G alleles have been identified until now. The most important polymorphism includes the presence of 14 bp sequence located in 3’ UTR region of HLA-G gene. It is proposed that this polymorphism is involved in mRNA stability which subsequently affects the levels of HLA-G molecules. The aim of our work was to analyse presence of 14 bp sequence in HLA-G gene in the group of patients suffering from bronchial asthma. Altogether we have analysed 176 asthma patients and 73 healthy individuals. Using PCR method we found individuals with HLA-G genotype „-14/-14“ (29,55% vs. 32,88%), with HLA-G genotype „+14/+14“ (19,89% vs. 16,44%) and those who are heterozygous „+14/-14“ (50,57% vs. 50,68%). No statistical significance has been observed by comparing any analysed group to healthy controls as revealed by parameter p counting, nevertheless, the most statistical difference were found between the „+14/+14“groups of patients and controls (p = 0,5964).

Imunologický ústav LF Univ Kom Bratislava

Martinské centrum imunológie s r o Martin

HLA-G polymorphism and bronchial asthma

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