Exploring the Associations Between CHRNA5 and IREB2 Gene Polymorphisms and COPD in the Kazakhstan Population

Akparova A. Kurmanova G. Trimova G. Ashirbekov Y. Nigmatova D. Abdrakhmanova B. Mussagulova Z. Idrisova G. Kulembayeva A. Kurmanova A.
September 2025 Multidisciplinary Digital Publishing Institute (MDPI)

Biomedicines
2025 #13 Issue 9

Background/Objectives: Chronic obstructive pulmonary disease (COPD) is a progressive inflammatory lung disease characterized by irreversible airway obstruction. This study aims to investigate the associations between COPD and its phenotypes with polymorphic variants of the IREB2 and CHRNA5 genes in the Kazakhstan population. Methods: A case–control study was conducted involving 265 COPD patients and 267 controls. Genotyping of the IREB2 polymorphisms rs13180 and rs2568494, as well as CHRNA5 rs16969968 polymorphism, was performed using real-time polymerase chain reactions (Real-Time PCRs). Results: A higher frequency of the AA genotype of the IREB2 rs2568494 polymorphism was identified in COPD patients with moderate to very severe airflow obstruction (Chronic Obstructive Lung Disease (GOLD) stages II, III, and IV), with an odds ratio of 0.69 (95% CI = 0.23–2.10; Padj = 0.03). The IREB2 rs13180 polymorphism was significantly more frequent or prevalent in smokers and showed a correlation with FEV₁ (forced expiratory volume in one second) (β = 7.79, SE = 2.98, p = 0.01) and FEV₁/ FVC (forced vital capacity) (β = 9.51, SE = 2.95, p = 0.002). Additionally, the CC genotype of this polymorphism was associated with clinical manifestations of COVID-19 in COPD patients (χ²= 3,95, df = 2, p = 0.05). Conclusions: Our study identified a significant association between the IREB2 rs2568494 polymorphism and an increased risk of severe COPD. The IREB2 rs13180 polymorphism was linked to smoking behavior, as well as key lung function indicators, suggesting its potential role in disease progression and lung damage. Furthermore, the CC genotype of the IREB2 rs13180 polymorphism was associated with clinical manifestations of COVID-19 in COPD patients, indicating a potential impact of this genetic variant on susceptibility to viral infections in this population.

CHRNA5 , COPD , IREB2 , Kazakhstan , single-nucleotide polymorphisms

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Faculty of Medicine and Healthcare, Al-Farabi Kazakh National University, Almaty, 050040, Kazakhstan
Laboratory of Structural and Functional Genomics, M. Aitkhozhin Institute of Molecular Biology and Biochemistry, 86, Dosmukhamedov Street, Almaty, 050012, Kazakhstan
Respiratory Center, City Clinical Hospital No 1, Almaty, 050006, Kazakhstan
Department of General Biology and Genomics, L.N. Gumilyov Eurasian National University, 2, Satpayev Str., Astana, 010008, Kazakhstan

Faculty of Medicine and Healthcare
Laboratory of Structural and Functional Genomics
Respiratory Center
Department of General Biology and Genomics

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