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Standartnaya terapiya bronhial'noj astmy (BA) vklyuchaet naznachenie β2-agonistov. Izmenenie funkcional'noj aktivnosti β2-adrenoreceptora associirovano s polimorfizmom gena ADRB2 i svyazano s nizkim terapevticheskim otvetom na β2-agonisty. Vyyavlenie nositelej klinicheski znachimyh variantov gena pomozhet izbezhat' neeffektivnogo lecheniya i posluzhit osnovaniem dlya naznacheniya al'ternativnoj terapii. Cel'yu issledovaniya bylo ocenit' klinicheskuyu znachimost' associirovannyh s terapevticheskim otvetom na β2-agonisty polimorfnyh variantov gena ADRB2 (Arg16Gly i Gln27Glu) dlya gruppy pacientov s BA. Provedeno klinicheskoe i geneticheskoe obsledovanie nebol'shoj gruppy vzroslyh nekuryashchih pacientov (n = 21) s BA srednej stepeni tyazhesti (III–IV stupen' po GINA), v tom chisle pacientov novogo teratipa, dlya kotoryh harakterny plohoj otvet na β2-adrenergicheskie sredstva, no znachimyj otvet na M-holinergicheskie sredstva. V pervuyu gruppu byli opredeleny pacienty s podtverzhdennoj effektivnost'yu primeneniya sal'butamola, kotorye v to zhe vremya imeli horoshij otvet na ipratropiya bromid. Vo vtoruyu gruppu voshli pacienty s nizkoj effektivnost'yu terapii sal'butamolom i polozhitel'nym testom s ipratropiya bromidom. Analiz raspredeleniya polimorfnyh variantov Arg16Gly i Gln27Glu pokazal otsutstvie dostovernoj svyazi allelej i genotipov s effektivnost'yu primeneniya β2-agonistov (0,52 — dlya varianta rs1042713, p = 1,0; i 1,0 — dlya varianta rs1042714, r = 0,74 sootvetstvenno). Pri etom pacienty s otsutstviem otveta na sal'butamol imeli genotip libo Arg16Gly, libo Gly16Gly. Neobhodimy dal'nejshie issledovaniya s bol'shim chislom pacientov i rasshireniem perechnya testiruemyh polimorfnyh variantov.

Analiz associacii polimorfnyh variantov gena ADRB2 s otvetom na β2-agonisty u pacientov s redkim teratipom bronhial'noj astmy