Prognostic significance of interleukin-1a (il1a) RS1800857 genetic polymorphism in develop pulmonary sarcoidosis in residents of Karelia

The relevance of the research problem is justified by insufficient knowledge of the mechanisms for genetic regulation of inflammatory immune response during granuloma formation and arising inflammation in pulmonary sarcoidosis. It is believed that development of inflammatory process and formation of sarcoid granulomas occurs in subjects with genetically determined sensitivity to the effects of an unidentified etiological agent(s). The complexity of determining a causative factor(s) is accounted for by a variety of clinical forms and manifestations of the disease as well as a role for multifaceted immunological events in the pathogenesis of this disease. The process of inflammation, its intensity, may depend, among other issues, on host genetic background. Both enhanced and lowered production of pro-inflammatory factors can be observed in carriers of certain combinations of gene allelic variants. This, in turn, may determine human susceptibility to emergence of pulmonary sarcoidosis as well as alter clinical characteristics of the disease course and magnitude of developing immune inflammatory response. It should also be noted that the genetic background differs in various ethnic groups. Therefore, genetic background and environmental cues, ethnicity, may account for differed disease prevalence and phenotype. In this regard, it is relevant to search for allelic gene variations that could act as prognostic markers for development and progression of pulmonary sarcoidosis as well as characterize the features of its course. The data on the relationship between the carriage of allelic gene variations and susceptibility to pulmonary sarcoidosis as well as the contribution of IL1A rs1800857 polymorphic variant to development, progression, and therapy of the disease remain sparse and often contradictory. The current study assessed a risk of lung sarcoidosis in the subjects of Russian descent of the Republic of Karelia. According to the results of the studies, a significant association (p < 0.001) between the indicated IL1A gene allelic polymorphism and pulmonary sarcoidosis was established, with a risk of its development increasing by 3.47-fold (95% CI 2.41–5.01) in carriers of the T allele (p < 0.001). Thus, the single nucleotide polymorphism rs1800857 in the IL1A gene is associated with the risk of developing lung sarcoidosis in the subjects of Russian descent of the Republic of Karelia.