Please use this identifier to cite or link to this item: http://hdl.handle.net/10773/40774
Title: Decoding The Genetic Architecture Behind Disease Heterogeneity: A Genome-Wide Association Study And Cluster Analysis In COPD
Author: Rodrigues, Guilherme
Marçalo, Rui
Moura, Gabriela
Afreixo, Vera
Marques, Alda
Issue Date: 10-Dec-2023
Publisher: Universidade de Aveiro
Abstract: Pulmonary, as well as extrapulmonary features such as muscle weakness and reduced exercise capacity, contribute signifcantly to the morbidity and mortality as well as the individual, social and economic burden of chronic obstructive pulmonary disease (COPD). Aetiology is multifactorial, including extrinsic factors such as smoking, inactivity, malnutrition and corticosteroid use, as well as intrinsic factors such as hypoxia, hypercapnia, infammation and oxidative/nitrosative stress. Evidence suggests single-nucleotide polymorphisms (SNPs) may be involved in muscle wasting and other pathophysiological processes. A known genetic predisposition to functional impairment could therefore be useful in optimising the treatment of this meaningful patient-centred health domain. Hence, we conducted a cluster analysis and genome-wide association study (GWAS), to identify genetic variants associated with functional impairment in individuals with COPD.
Peer review: yes
URI: http://hdl.handle.net/10773/40774
DOI: 10.34624/jshd.v5i2.32432
Appears in Collections:ESSUA - Comunicações
IBIMED - Comunicações
Lab3R - Comunicações

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