DETECTION OF RS9939609 POLYMORPHISM OF FTO GENE AND RS324011 POLYMORPHISM OF STAT6 GENE AND SEVERITY DEGREE OF BRONCHIAL ASTHMA ASSOCIATED WITH OBESITY

Alexander Fediv,Elena Melnik

doi:10.21303/2504-5679.2017.00413

Abstract

The aim of this research was to analyze the distribution of FTO and STAT6 genes polymorphism in patients with bronchial asthma (BA), associated with obesity (Ob) depending on the main disease severity degree. Materials and methods. The study included 117 patients 18–48 years old, divided in 3 groups. The main group (bronchial asthma, associated with obesity) included 57 patients, two groups of comparison – 30 patients with the diagnosis BA and a normal body weight, and 30 patients with obesity, but without the pathology of the bronchopulmonary system. The general genomic DNA was extracted from blood according to the standard protocol. The genetic typing was realized by the method of allele-specific amplification with the detection of results in the real time regime using TaqMan-probes, complementary to polymorphic parts of DNA. The detection of deletions in FTO and STAT 6 genes was realized by the method of polymerase chain reaction (PCR) using specific primers. Results. In the main group, among patients with BA and Ob, carriers of Т/Т genotype were 36,84 %, Т/А – 45,61 %, А/А – 17,55 % against 40 %, 60 % and 0 % respectively in PHP group by FTO gene. Carriers of С/С genotype in the main group were 38,6 %, С/Т – 35,09 %, Т/Т – 26,31 % against 40 %, 55 % and 5 % respectively in PHP group by STAT6 gene. In the main group the light persisting BA was diagnosed in 20,0 % of cases, middle severity – in 60,0 % and severe – in 20,0 % of patients. In the group of comparison this disease severity was observed in 17,7 %, 66,5 % and 15,8 % of observations, respectively. Conclusions. So, among patients with BA, associated with Ob with the middle and severe course of asthma the percent of heterozygous (Т/А) and mutant carriers (А/А) rs9939609 polymorphism of FTO gene is higher than at the light course. The analogous situation is observed at the study of rs324011 polymorphism of STAT6 (C2892T) gene among this category of patients. So, the determination of FTO and STAT6 genes polymorphism in patients with BA, associated with Ob, can be considered as a marker of the more severe course of asthma.

Highlights

Bronchial asthma (BA) it is a classic example of a multifactor pathology, realized at the interaction of numerous factors of environment and hereditary predisposition [1, 2]
Today there is revealed a series of genes, involved in the asthma pathogenesis, that exist in different allele variants and favor BA appearance
The last years’ studies, including the full genomic analysis demonstrated the essential connection between obesity and rs9939609 single nucleotide polymorphism in the first intron of FTO fat gene, fat mass and obesity associated [17, 18]

Summary

Introduction

Bronchial asthma (BA) it is a classic example of a multifactor pathology, realized at the interaction of numerous factors of environment and hereditary predisposition [1, 2]. The genetic polymorphism is a base of the phenotypic difference between persons and may cause the hereditary predisposition to different nosologies [3, 4]. The detection of “predisposition genes” may favor the purposeful primary prophylaxis in receptive persons [5]. It was established, that at the combination of BA and obesity can be observed the heavier asthma course, worsening of disease control and inadequate response of patients to the treatment [6]. In patients with BA and obesity is formed the difficultly controlled phenotype with manifestations of a dose-dependence or resistance to inhalation CS (ICS) [7]. The feature of BA course at the modern stage is the growth of specific weight of severe forms, including among youth that the high invalidism and lethality are connected with [9, 10]

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Discussion

Conclusion