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

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Why do some smokers get away with it?

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.

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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.

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