АЛМАТЫ ҚАЛАСЫ ТҰРҒЫНДАРЫНДА БРОНХИЯЛЫҚ АСТМАНЫҢ ДАМУ ҚАУПІНЕ АДАМНЫҢ ГЕНЕТИКАЛЫҚ ПОЛИМОРФИЗМДЕРІ МЕН PM2.5, CO ЖӘНЕ SO2 КОНЦЕНТРАЦИЯЛАРЫНЫҢ ӘСЕРІН ТАЛДАУ

Abstract

Approximately 91% of the world’s population lives in regions where air pollution levels exceed the limits set by the World Health Organization. Exposure to polluted air is recognized as a significant risk factor for bronchial asthma (BA). In Kazakhstan, the prevalence of BA continues to increase, and worsening environmental conditions make a substantial contribution to this trend. Twin studies have shown that the heritability of BA reaches up to 70%. At the same time, external factors including air quality also play an important role. Single nucleotide polymorphisms (SNPs) identified through genome-wide association studies (GWAS) help determine genetic predisposition to BA and assess the influence of environmental factors such as air pollutants PM_2.5, CO, and SO₂.

The aim of this study is to analyze SNPs associated with bronchial asthma and their interaction with atmospheric air pollutants among residents of Almaty. The study included patients diagnosed with BA and healthy volunteers; microarray genotyping was performed, and air pollution data were collected over a seven-month period. The most pronounced protective association was identified for rs3117098 (TSBP-AS1, OR=0.39, p=0.000), whereas rs2844510 (LINC01149, OR=2.00, p=0.047) and two polymorphisms in the HLA-DRA/TSBP1-AS1 region (rs9268516, rs3763309) were associated with increased risk. Notably, CO exposure significantly enhanced the genetic effect of rs3763309 (OR=2.96, p=0.002) and rs9268516 (OR=2.10, p=0.004), while the interactions with PM_2.5 and SO₂ were statistically significant but weak.

This is the first study aimed at identifying the association between asthma-related genetic variations and air pollutant concentrations in Almaty, with a focus on the Kazakh population. The findings will contribute to a deeper understanding of the mechanisms underlying BA development and support the advancement of personalized approaches to diagnosis and prevention.

Key words: bronchial asthma; environmental pollution; single nucleotide polymorphism; genotyping.