COMPREHENSIVE ANALYSIS OF POLYMORPHIC VARIANTS OF GENES OF TNF-α AND ER1 IN PATIENTS WITH ATOPIC ASTHMA

Abstract

Bronchial asthma (BA) is a multifactorial disease, genetic factors play an important role in its etiopathogenesis. At the same time, data on associations of polymorphic variants of the estrogen receptor gene with BA are quite contradictory. Objective of this research was to study the peculiarities of allele polymorphism frequencies of ER1 and TNF-α genes and their combinations in patients with atopic BA depending on the disease severity. Materials and methods: in the course of a retrospective single-center comparative pilot study by PCR/RFLP analysis, the frequencies of alleles and genotypes for the ER1 and TNF-α genes were determined in 78 prepubertal children (9 [6–13] years) with atopic BA. The population comparison group included 115 people. Results: the study revealed that in BA patients with moderate severity, genotypes Xx (48% and 14%; OR=6,067 CI=[1,653–22,268]), and Pp (94% and 47%, respectively; OR=18,074 CI=[2,319–140,854]) of the ER1 gene were statistically significantly more common than in the comparison group. A statistically significant difference was found in the distribution of genotype combinations for the XbaI and PvuII polymorphisms of the ER1 and –308A genes>G of TNF-α gene polymorphism in patients with BA and in the comparison group (2=31,761, p=0,0043). The frequency of the combined a-PpXx genotype in BA patients was higher than in the comparison group (22% and 3%, OR=11,09, p<0,0001). Conclusion: associations were found between the severity of BA and the genotype of the ER1 gene. The revealed absence of associations of polymorphism of the ER1 gene and BA with gender is probably due to the fact that we observed the direct influence of genetic factors without the influence of hormonal background.