Unresolved Issues in Chronic Obstructive Pulmonary Disease: Perspectives in Genetic Research



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Abstract

The global prevalence of chronic obstructive pulmonary disease among individuals aged >40 years is approximately 10%. The disease’s progression, often leading to early disability, underscores its significant medical and social impact. Further research of risk factors, particularly genetic underpinnings, of chronic obstructive pulmonary disease is essential for developing effective primary prevention strategies in genetically predisposed individuals. This review aimed to analyze international and Russian scientific sources on genetic polymorphisms associated with chronic obstructive pulmonary disease and their roles in disease pathogenesis and examine the pharmacogenetic aspects of therapy, specifically how genetic variation affects drug efficacy and safety. Full-text articles published between 2000 and 2024 and indexed in PubMed, eLIBRARY.RU, Google Scholar, and ResearchGate were analyzed. This review summarizes key genetic studies on chronic obstructive pulmonary disease, including comorbidities and pharmacogenetic characteristics of commonly used drugs. Research on heritable factors confirmed that genetic susceptibility increases the risk of chronic obstructive pulmonary disease. Several variables influence therapeutic response, among which genetic factors are critical for guiding treatment choices. Large-scale genome-wide association studies have identified chronic obstructive pulmonary disease-associated loci that contribute to our understanding of disease pathogenesis. Polygenic risk scores based on multiple single-nucleotide polymorphisms have demonstrated efficacy in predicting disease risk and severity and may be useful in predictive medicine. The investigation of genetic polymorphisms offers promising opportunities for the advancement of personalized approaches to the prediction, prevention, and treatment of chronic obstructive pulmonary disease.

About the authors

Rustem F. Khamitov

Kazan State Medical University

Email: rhamitov@mail.ru
ORCID iD: 0000-0001-8821-0421
SPIN-code: 5362-0356

MD, Dr. Sci. (Medicine), Professor, Head, Depart. of Internal Diseases

Russian Federation, Kazan

Firyuza I. Sattarova

Kazan State Medical University

Author for correspondence.
Email: fifuza@mail.ru
ORCID iD: 0009-0002-1157-0984
SPIN-code: 8579-1605

Assistant Lecturer, Depart. of Internal Diseases

Russian Federation, Kazan

Emiliya S. Egorova

Kazan State Medical University

Email: jastspring@yandex.ru
ORCID iD: 0000-0002-6210-4660
SPIN-code: 8706-8630

Junior Research Associate, Lab. of Genetics of Aging and Longevity, Central Research Laboratory

Russian Federation, Kazan

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