By Prof. John Attia
We contributed data from our local Hunter Community Study to an international effort to identify genes contributing to lung function; these are obviously important for diseases such as asthma and emphysema. Studies from around the world that had collected information on genetic polymorphisms (common genetic variants) and spirometry (lung function tests) on adult males and females were invited to pool data in an international consortium.
Such large scale studies are needed because the effect of individual genes are very small and large sample sizes are needed to detect them.
Most of the work we have done with genetics as part of international consortia has been through the CHARGE group. Our initial contact with this group was through an International Stroke Genetic Consortium conference that we hosted here in Newcastle. In talking over coffee with one of the delegates from the US, Sudha Sheshadri, a Professor of neurology from Boston University, conversation moved to cohort studies and to the Hunter Community Study, hosted at HMRI.
She thought the measures available from the study were very broad ranging and she sent an introductory email to the head of the CHARGE consortium that had just started up. We followed this through, which has led to the multiple papers mentioned previously.
Results from over 52,000 people from 14 different countries were eventually pooled including the US, UK, Germany, France, Belgium, Netherlands, Croatia, Sweden, Finland, Norway, South Korea, New Zealand and Australia; we were 1 of 2 centres in Australia to contribute results.
The results were just published just this month in Nature Genetics (July 2014, vol 46, pages 669-677) and identify 6 new genes that are potentially involved in lung development and/or lung disease. This is the 8th time that we contribute to such international consortia; other occasions have focused on stroke, IQ, kidney function, and endometriosis.
*** Professor John Attia is Academic Director, School of Medicine and Public Health at the University of Newcastle, and Academic Director of General Medicine at John Hunter Hospital, Hunter New England Health.