Clinical Epidemiology Unit

Genetic and environmental risk factors for COPD

Assoc Prof Michael Abramson
Dr Justine Ellis
Ms Melanie Matheson
Dr Rory Wolfe

Funded by: Monash Small Grant
LEW Carty Foundation

Chronic obstructive pulmonary disease (COPD) arises from an interaction between genetic susceptibility and environmental agents. The best-described genetic factor is homozygous a1-antitrypsin deficiency, although this only accounts for a small proportion of cases. The major known environmental cause of COPD is cigarette smoking.
However not all smokers develop COPD, suggesting that other genetic and occupational factors contribute to susceptibility. We are investigating the roles of genes and occupational exposures in COPD. This project is examining the interaction between genetic and environmental risk factors and provide important information for preventing
respiratory diseases and disability in the future.

This project is an extension of our current NHMRC funded project investigating COPD in middle aged and older adults. To date 981 of the target sample of 1,200 people have been tested. Ethical approval for this phase of the project was received on 16th April 2002. Participants seen before this date have been contacted by letter to obtain consent to use their blood samples provided at the laboratory visits. To date, 86.1% of the 729 people seen before this date have agreed to participate. DNA extraction has been commenced with the phenol-chloroform method to improve DNA yield and quality. Optimisation of the genotyping methods has been started.

Publications

M.Matheson, J.Ellis, J.Raven, M.Sim, E.H.Walters, M.Abramson. Genetic and environmental risk factors for chronic asthma in middle aged and older adults. Asthma
Australia Conference, Hobart 2002. [Abstract]