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Thursday, 20 September 2012

Busselton residents were among 170,000 people of European ancestry around the world in a study examining for the first time how genetic variants influence the complex trait of body mass index (BMI).

The University of Western Australia was one of almost 130 international health and research organisations contributing to the study, with co-authors including Adjunct Professor John Beilby and Dr Jennie Hui, of UWA's Schools of Pathology and Laboratory Medicine and Population Health.

For the study published in Nature , the Busselton Health Study (BHS) population was surveyed for a fat mass and obesity-associated genotype (FTO) which researchers found was linked to BMI variability in men and women.

Researchers looked at both the genotype (genetic makeup) of those involved in the study and the phenotype - a combination of genotype, environment and epigenetic factors, or heritable changes in gene expression.

The researchers found that variants at the FTO locus have the largest effect on BMI.  This explains why people with the same genotype may be obese while others are not.

"Knowledge of phenotypic variability as a function of genotype may be important when the phenotypes are risk factors for disease or treatment response," the authors wrote.

"The demonstration that individual genetic loci with effects on variability can be identified facilitates further study to understand the function and evolution of the genetic control of variation.

"This is important in medicine, evolutionary biology and agricultural selection programs, yet for complex traits, no individual genetic variants associated with variance have been identified until now."

The BHS is one of the world's longest-running epidemiological research programs.  Since 1966, it has contributed to an understanding of many common diseases and health conditions.  The unique BHS database is compiled and managed by UWA's School of Population Health.

Data for the BMI study was obtained from Busselton and 44 other populations around the world, including Iceland, the US, Switzerland, Croatia, Sweden, Finland, Estonia, the Netherlands, Germany, Italy, Poland, the UK and Israel.  The Amish community in the US also took part.

Media references

Adjunct Professor John Beilby (UWA School of Pathology and Laboratory Medicine)  (+61 8)  9346 3882
Dr Jennie Hui (UWA School of Population Health and School of Pathology and Laboratory Medicine)  (+61 8)  9346 1931
Michael Sinclair-Jones (UWA Public Affairs)  (+61 8)  6488 3229  /  (+61 4) 00 700 783

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