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Wednesday, 19 October 2011

A high standard of living is no protection against the insidious disease of asthma, which is more prevalent in Australia, New Zealand and the UK than anywhere else in the world.

One in eight adults and nearly one in five children in Australia suffer from asthma.

So it comes as no surprise to find out that Australia (specifically WA) leads the way in asthma gene research: trying to find out exactly what gene variants cause the disease, so that treatments can be specifically targeted.

The difficulty lies in the many different forms of asthma: some caused by allergies, some not, and some of them a combination of the two.

WA has four groups working in asthma genetics, three of them directly affiliated with UWA: the Lung Institute of WA , the Raine Cohort Study and the School of Paediatrics and Child Health. The fourth is the Busselton Group.

These groups are part of the Australian Asthma Genetics Consortium, headed by Dr Manuel Ferreira from the Queensland Institute of Medical Research, which recently announced the discovery of two new genetic variants that increase the risk of asthma.

It was published in the prestigious medical journal, The Lancet.

The two latest discoveries are the geographical locations on the DNA where there are gene variants between asthmatics and non-asthmatics.

One is in the interleukin-6 receptor (IL6R) gene on chromosome 1 and the other near a gene called GARP on chromosome 11.

"IL6R is particularly interesting because it plays an important role in the immune system and inflammation," said Winthrop Professor Philip Thompson, director of the Lung Institute and senior author of The Lancet paper.

"The results suggest that asthma patients produce more IL6R in the lung than non-asthmatics which, in turn, contributes to inflammation. Medications acting on that receptor may provide new treatment options."

He said asthma was an umbrella term to describe a mix of diseases with different subsets and different pathways. "The research is far more complex than simply finding a single gene for asthma. There are multiple genes involved.

"The pathway usually begins with an external trigger, such as house dust mite or cat hair, taking advantage of the abnormality of a certain gene, which alters the normal way a body would react. Several pathways lead to what we know as asthma."

Professor Thompson said WA was a powerful force in asthma genetics and the findings of the consortium had led to international interest and recognition.

"The NHMRC funding to put together this consortium has not only resulted in the genetic discoveries, but in an invitation to join international consortia," Professor Thompson said. "It shows that networking and collaboration can lead to something powerful, with key scientists combining their expertise. We were able to take advantage of the international collaborators' work to validate our work, and the results were published in the highest quality journal."

Professor Thompson said the inclusion of Winthrop Professor Peter Le Souëf, head of Paediatrics and Child Health, added value to the project. Professor Le Souëf is a world-renowned asthma geneticist. The other key contributors were Adjunct Associate Professor Alan James (Busselton) and Professor Craig Pennell (Raine Cohort Study).

The significant outcomes in the study highlight the major contributions that Western Australian medical scientists are making in the field of asthma and asthma genetics.

"I feel we are at a turning point in the search for treatments that target specific abnormalities. We know there is something on these chromosomes that is relevant to asthma. Now we need to drill down further and fine tune the map," Professor Thompson said.

Published in UWA News , 17 October 2011

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