COPACETIC

"COPD Pathology: Addressing Critical gaps, Early Treatment and Innovative Concepts"

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 Obiettivo del progetto (Objective)

'COPD is the only chronic disease with an increasing mortality and it will constitute the 4th leading cause of death by 2035 world wide. To alleviate the burden of COPD an accurate and easy diagnosis in the early stages of COPD needs to be developed. Many studies strongly suggest that there is an individual genetic susceptibility to COPD: only 10-15% of all smokers develop COPD. In another study, 53% of subjects had mild and 13.3% severe emphysema. When that genetic susceptibility becomes known, new diagnostics and a better insight into the pathogenesis of COPD will become available. Treatment or prevention come into reach. Several studies have elucidated a low number of significant genetic differences obtained via the candidate gene approach: a better approach is a genome wide scan. The results of such a genome wide scan will be compared between smokers with and without COPD. This approach has proven itself in e.g. diabetes mellitus. Data show that diagnosing COPD by only using pulmonary function tests, will only pick up a minority of the patients with emphysema. So, a diagnostic bias is often present, but avoided in the current study: it is the first time that data on CT scans and pulmonary function are combined for an accurate diagnosis. We will carry out a 300.000 SNP genome wide scan in a 4000 male heavy smokers with and without COPD. The diagnosis of COPD is based on using pulmonary function tests and CT-scanning. A replication study with the ~3,000 most significant SNPs will be performed in 5 European replication cohorts to remove false positives findings, study sex influences, population stratification and disease severity. We will also investigate gene expression in peripheral blood of smokers with and without COPD. The gene expression data will assist in SNP selection. We will build COPD prediction models based on the significant SNPs from the replication studies and validate the rule in all avalable cohorts'

Introduzione (Teaser)

Smoking is tied to chronic obstructive pulmonary disease (COPD), yet many smokers never develop it. EU scientists are attempting to identify the genetic characteristics that predispose people to COPD and thereby the means to treat or diagnose it effectively.

Descrizione progetto (Article)

COPD is an incurable progressive lung disease associated with long term inhalation of fine dust or smoking. Current treatment is to give up smoking and alleviate painful symptoms with medication. Over 5 million people die of COPD every year. COPD is characterised by chronic obstruction of airflow to the lungs or the destruction of lung tissue and interferes with normal breathing.

Scientific studies have identified a link between genetic susceptibility and COPD development. Only one in four smokers is likely to develop COPD. The EU funded project 'COPD pathology: Addressing critical gaps, early treatment and innovative concepts' (COPACETIC) conducted a genome-wide scan of individuals at high risk. Subjects were selected on the basis of computerised tomographic (CT) scans and pulmonary tests.

COPACETIC partners collected genetic material from thousands of smokers and non-smokers in various European countries to conduct genome wide association scans (GWASs) for COPD, chronic bronchitis and emphysema. The GWAS results on COPD found approximately 350 DNA variations (single nucleotide polymorphisms (SNPs)) that were subsequently examined. Studies were also carried out to identify genes involved in chronic mucous hypersecretion and factors including but not limited to genetics leading to lung function decline. Baseline studies showed that COPD resulted from airflow obstruction or tissue damage, but not both.

World Health Organization (WHO) estimates that total deaths from COPD will increase by more than 30 % in the next 10 years. The COPACETIC study aims to reverse this trend by identifying the genetic factors that make some individuals more susceptible to COPD from smoking. Genetic risk factors if identified early can be used as biomarkers. High risk individuals can be advised to avoid smoking to prevent onset of COPD. Early diagnosis and treatment could be initiated early in genetically susceptible smokers to arrest or slow down the progressiveness of COPD.