Please use this identifier to cite or link to this item:
Title: Genetic profile and patient-reported outcomes in Chronic Obstructive Pulmonary Disease: a systematic review
Author: Melro, Hélder
Gomes, Jorge
Moura, Gabriela
Marques, Alda
Issue Date: 21-Jun-2018
Publisher: Public Library of Science
Abstract: Background: Chronic Obstructive Pulmonary Disease (COPD) impacts differently on patients at similar grades, suggesting that factors other than lung function may influence patients’ experience of the disease. Recent studies have found associations between genetic variations and patient-reported outcomes (PROs). Identifying these associations might be fundamental to predict the disease progression and develop tailored interventions. This systematic review aimed to identify the genetic variations associated with PROs in COPD. Methods and Findings: Databases were searched until July 2017 (PROSPERO: CRD42016041639) and additional searches were conducted scanning the reference list of the articles. Two independent reviewers assessed the quality of studies using the Q-Genie checklist. This instrument is composed of 11 questions, each subdivided in 7 options from 1 poor-7 excellent. Thirteen studies reporting 5 PROs in association with genes were reviewed. Studies were rated between “good quality” (n=8) and “moderate” (n=5). The most reported PRO was frequency of exacerbations (n=7/13), which was mainly associated with MBL2 gene variants. Other PRO’s were health-related quality of life (HRQOL) (n=4/13), depressive symptoms (n=1/13), exacerbation severity (n=1/13) and breathlessness, cough and sputum (n=1/13), which were commonly associated with other genetic variants. Conclusions: Although a limited number of PRO’s have been related to genetic variations, findings suggest that there is a significant association between specific gene variants and the number/severity of exacerbations, depressive symptoms and HRQOL. Further research is needed to confirm these findings and assess the genetic influence on other dimensions of patients’ lives, since it may enhance our understanding and management of COPD.
Peer review: yes
DOI: 10.1371/journal.pone.0198920
ISSN: 1932-6203
Appears in Collections:IBIMED - Artigos
DCM - Artigos
Lab3R - Artigos

Files in This Item:
File Description SizeFormat 
journal.pone.0198920.pdf1.98 MBAdobe PDFView/Open

Formato BibTex MendeleyEndnote Degois 

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.