Abstract
The aim of the study was to evaluate the effect of TRPM8 cold thermoreceptor gene polymorphisms on the development of asthma phenotype with cold airway hyperresponsiveness (CAH). 167 cases of mild-to-moderate persistent asthma were retrospectively analyzed. In each case, the examination included two repeated bronchoprovocation tests with 3-min isocapic cold air hyperventilation with 6-month interval, standard spirometry and genotyping of seven TRPM8 polymorphisms (rs11562975, rs17868387, rs28901637, rs138810119, rs2052030, rs17865682 and rs1003540). A double positive response to the bronchoprovocation test served as a criterion for the phenotype of asthma with CAH. Based on the results of the study, previously revealed relationship between rs11562975 polymorphism and CAH was confirmed, and also three new polymorphisms (rs17868387, rs17865682 and rs1003540) differentially associated with CAH asthma phenotype were identified. The obtained data indicate the contribution of the molecular genetic peculiarities of TRPM8 to the pathogenesis of CAH and substantiate the further search for additional molecular mechanisms of cold-induced respiratory reactions.
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