Chronic Obstructive Pulmonary Disease (COPD) is characterized by a chronic airflow limitation associated with an abnormal inflammatory response of the airways to inhaled noxious particles or gases. It is the third leading cause of death worldwide, accounting for approximately 3 million deaths each year and the prevalence is predicted to increase even further during the coming decade (WHO 2015). In the last two decades, there has been a disappointing lack of fundamental breakthroughs in the understanding of the pathophysiology of COPD and there is currently no pharmacological treatment available that halts its relentless progression. A clear alternative for describing COPD does not exist either, while the identification of subgroups of COPD patients based on clinical, genomic and epigenomic factors would be useful. A clinically relevant phenotype with high potential of having a genetic cause is severe early-onset COPD (SEO-COPD), defined by severe airflow obstruction (FEV1 ≤ 40% predicted) at a relatively young age (≤53 years) \[1\]. In the UMCG, we have a continuous flow of severe COPD patients who are referred to our hospital for bronchoscopic lung volume reduction treatment or lung transplantation. Approximately 40-50% of these patients fulfil the criteria for SEO-COPD. As part of a previously approved study ("Phenotyping in COPD", METc 2014/102), these patients are routinely characterized when they are willing to participate in this study and gave their written informed consent. Characterization is performed using lung function (i.e. spirometry, body box), clinical (i.e. questionnaires, physical examination, measurement of waist-hip ratio), radiologic (HRCT-scan) and systemic parameters (venous blood collection). Moreover, the following additional samples are being extracted: bronchial biopsies, bronchial brushes and nasal brushes. There are two objectives this study adds. The primary objective is to identify the genetic and epigenetic mechanisms underlying SEO-COPD by using the bronchial brushes and biopsies that are already extracted from the SEO-COPD patients. The secondary objective is to add two control groups (i.e. mild-moderate COPD group and healthy non-COPD control group) matched for age and smoking habits (all COPD patients referred for BLVRT or lung transplantation are ex-smokers). Hopefully, this will eventually explore COPD susceptibility and its genetic cause, resulting in a more tailored treatment of this COPD subset.
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Common and rare genetic variants that contribute to severe early-onset COPD
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