Genetic profile and patient-reported outcomes in chronic obstructive pulmonary disease: A systematic review

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.

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.

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.