Page 27 - GTM-1-1

Global Translational Medicine

ORIGINAL RESEARCH ARTICLE
Gene-gene and gene-environment

interactions of the inflammatory gene variants
in the development of chronic obstructive

pulmonary disease

1
1
2
Gulnaz F. Korytina *, Yulia G. Aznabaeva , Timur R. Nasibullin , Olga V. Kochetova ,
1
1
3
Natalia N. Khusnutdinova , Tatyana V. Viktorova , and Naufal Sh. Zagidullin 2
1 Laboratory of Physiological Genetics, Institute of Biochemistry and Genetics - Subdivision of the
Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russian Federation
2 Department of Internal Diseases, Bashkir State Medical University, Ufa, Russian Federation
3 Department of Biology, Bashkir State Medical University, Ufa, Russian Federation

Abstract
Chronic obstructive pulmonary disease (COPD) is a complex chronic inflammatory
disease that is characterized by partly reversible airflow limitation, chronic
inflammation, fibrosis of small airways, and destruction of lung parenchyma.
We aimed to assess the association of the inflammatory gene loci singly and in
combinations with COPD in smokers and non-smokers in ethnic Tatar from Russia to
evaluate the gene-gene and gene-environment interactions in COPD development.
Eleven loci of inflammatory genes, including IL19, IL20, IL24, PPBP, IL4, IL4RA, С5,
Corresponding author: FAS, FASLG, and TGFb1, were genotyped in 484 smoking COPD patients, 517 healthy
Gulnaz F. Korytina smokers, 117 non-smoking COPD patients, and 100 healthy non-smokers. Significant
(guly_kory@mail.ru)
associations with COPD in smokers were identified for IL19 (rs2243193), IL4
Citation: Korytina GF, (rs2243250), IL4 (rs2070874), and PPBP (rs352010). In non-smokers, associations were
Aznabaeva YG, Nasibullin TR,
et al., 2022, Gene-gene and established for IL24 (rs291107), IL4 (rs2070874), and PPBP (rs352010). Associations of
gene-environment interactions of the inflammatory genes loci IL19 (rs2243193), IL4 (rs2070874), TGFb1 (rs1800469), PPBP
inflammatory gene variants in the (rs352010), and FASLG (rs763110) and smoking index were determined. Associations
development of chronic obstructive
pulmonary disease. Global Transl of FAS (rs1800682), FASLG (rs763110), IL4 (rs2243250), IL4RA (rs1805010), and PPBP
Med, 1(1): 91. (rs352010) loci with pulmonary function variables were observed. The results of gene-
https://doi.org/10.36922/gtm.v1i1.91 gene interactions analysis showed distinctive patterns of association of inflammatory
Received: May 11, 2022 gene loci with COPD in groups stratified by smoking status. The combination of A
Accepted: June 20, 2022 allele of IL19 (rs2243193), C allele of IL4 (rs2243250), and T allele of PPBP (rs352010)
Published Online: June 28, 2022
was the main component of the majority of protective gene-gene combination
Copyright: © 2022 Author(s). associated with COPD in smokers. The highest risk of COPD was conferred by TT
This is an Open Access article genotype of PPBP (rs352010) in combination with A allele of FAS (rs1800682). While in
distributed under the terms of the
Creative Commons Attribution non-smokers, the most commonly featured was IL24 (rs291107) C allele in protective
License, permitting distribution, patterns and IL24 (rs291107) T allele in predisposing combinations. The highest risk
and reproduction in any medium, of COPD in non-smokers was detected in a gene-gene combination consisting of A
provided the original work is
properly cited. allele of IL12RB2 (rs3762317) together with G allele of IL12A (rs2243115), C allele of IL4
(rs2070874), and A allele of IL4RA (rs1805010).
Publisher’s Note: AccScience
Publishing remains neutral with
regard to jurisdictional claims in
published maps and institutional Keywords: Chronic obstructive pulmonary disease; Cytokine; IL19; IL24; PPBP
affiliations.

Volume 1 Issue 1 (2022) 1 https://doi.org/10.36922/gtm.v1i1.91