Utilize este identificador para referenciar este registo: http://hdl.handle.net/10773/36583
Título: COPD: can genetic Background inform about disease heterogeneity?
Autor: Marçalo, R. F. Santos
Rodrigues, G.
Córdova, T.
Neves, V.
Neto, S.
Pinheiro, M.
Santos, M. A. S.
Simão, P.
Mendes, A.
Andrade, L.
Marques, A.
Moura, G. R.
Palavras-chave: COPD
Data: 1-Dez-2022
Editora: European Respiratory Society
Resumo: People with COPD vary substantially on their pulmonary (e.g., airway obstruction) and extra-pulmonary (e.g., symptoms, functional status) manifestations. The aim of this study was to relate this high heterogeneity to the patient’s genetic Background, namely focusing on polymorphisms associated with COPD and COPD-associated phenotypes and features. Summary statistics for COPD and COPD-associated phenotypes and features (emphysema, FEV1, FEV1/FVC, smoking, BMI, asthma, airway responsiveness, coronary heart disease, blood pressure, pulmonary artery enlargement, resting heart rate and resting oxygen saturation) were obtained from GWAS Catalog (https://www.ebi.ac.uk/gwas/ accessed in August 2021). A local COPD cohort was genotyped using Global Screening Arrays (GSA-Illumina) and polygenic risk scores were calculated per phenotype/feature. A cluster analysis was then carried out to determine how patients would group according to their assessed genetic risks. The study currently includes 255 participants with COPD (68 [61, 74] years old; 79.61% male; FEV1/FVC 53.02 [41.24, 61.94]). Our preliminary results show that people cluster into 3 main groups based on their genetic risk for emphysema, followed by COPD, whilst their clinical characteristics remained similar among groups. Future work is currently being conducted to further explore these clusters and perform their validation. This work was funded by FEDER funds through COMPETE 2020, Operational Programme for Competitiveness and Internationalization (POCI-01-0145-FEDER-028806), CENTRO 2020 (CENTRO-01-0246-FEDER-000018; CENTRO-08-5864-FSE-000039) and by Fundação para a Ciência e a Tecnologia (UI/BD/151337/2021). The iBiMED is supported by FCT funds under UIDP/04501/2020.
Peer review: yes
URI: http://hdl.handle.net/10773/36583
DOI: 10.1183/13993003.congress-2022.1811
ISSN: 0903-1936
Aparece nas coleções: ESSUA - Comunicações
DCM - Comunicações
IBIMED - Comunicações
Lab3R - Comunicações

Ficheiros deste registo:
Ficheiro Descrição TamanhoFormato 
COPD_ can genetic Background inform about disease heterogeneity_European Respiratory Society.pdf164.36 kBAdobe PDFVer/Abrir

Formato BibTex MendeleyEndnote Degois 

Todos os registos no repositório estão protegidos por leis de copyright, com todos os direitos reservados.