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Functional impairment in COPD can be predicted using genomic-derived data.

Rui Marçalo^1,2,3, Guilherme Rodrigues², Miguel Pinheiro⁴

¹Genome Medicine Laboratory, Institute of Biomedicine (iBiMED), Department of Medical Sciences, University of Aveiro, Aveiro, Portugal gmoura@ua.pt amarques@ua.pt ruifilipemarcalo@ua.pt.

|January 29, 2025

Summary

This summary is machine-generated.

Genetic factors significantly impact functional decline in chronic obstructive pulmonary disease (COPD). Polygenic risk scores can help identify individuals at higher risk for personalized interventions.

Keywords:

Exercise Pulmonary Disease, Chronic Obstructive Pulmonary Rehabilitation

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Area of Science:

Pulmonary Medicine
Genetics
Biostatistics

Background:

Reduced functional capacity and muscle weakness are key issues in chronic obstructive pulmonary disease (COPD).
The genetic underpinnings of functional impairment in COPD are not well understood.

Purpose of the Study:

To investigate the contribution of genetic factors to functional impairment in COPD patients.
To develop a predictive model for functional decline using genetic data.

Main Methods:

Cross-sectional analysis of sociodemographic, clinical, and genetic data from 245 COPD patients.
Hierarchical clustering based on functional capacity and muscle strength.
Genome-wide association study (GWAS) and calculation of polygenic risk scores (PRSs).

Main Results:

Two patient clusters identified: one with preserved function, another with reduced capacity and weakness.
GWAS suggested associations with polymorphisms in xanthine dehydrogenase.
A predictive model using genomic data achieved an AUC of 0.87 for identifying functional impairment.

Conclusions:

Genetic factors are significantly linked to functional impairment in COPD.
Integrating PRSs into predictive models can aid in early identification of at-risk individuals.
Further validation in external cohorts is recommended for the predictive model.