Family study of ear health and metabolic diseases in a WA Aboriginal community

Family study of ear health and metabolic diseases in a WA Aboriginal community

Jenefer Blackwell (Project Leader), Harvey Coates, * Heather Cordell, Elizabeth Davis, Sarra Jamieson, Simon Miles, Marie Rye, Elizabeth Scaman, Genevieve Syn, Shyan Vijayasekaran (* International Partner)

Understanding health and disease in Aboriginal communities could play an important role in reducing the disparity between Aboriginal and non-Aboriginal populations in Australia.

The aim of this project is to use genetics as a tool to understand more about the pathogenesis of disease in Aboriginal Australians.

During 2008 a partnership was established between the Ngangganawili Aboriginal Health Service (NAHS) and TICHR, underpinned by the signing of memoranda of understanding (MoU) between NAHS and TICHR, and between NAHS, Karalundi Aboriginal Educational Community Inc. (KAEC; which is serviced clinically by NAHS) and TICHR. These MoUs incorporate the principles for research in Aboriginal communities as outlined within the framework of the NHMRC and other national guidelines. The family study of ear health and metabolic diseases was approved by the WA Aboriginal Health and Information Ethics Committee (WAAHIEC) in 2009.

This study is examining genetic susceptibility to otitis media in children, and genetic risk factors for metabolic diseases such as type 2 diabetes (T2D), heart disease, renal failure, and obesity in adults.

Collection of saliva for DNA commenced in November 2009, and by mid 2010 we had 425 fully consented DNA samples from large inter-related pedigrees which have been analysed on the Illumina 1.5M Duo SNP-chip to allow genome-wide association study (GWAS) of these diseases and related clinical and quantitative trait data.

Preliminary analysis of body mass index and T2D has identified regions of association containing genes with strong functional implications for T2D in this population, results of which will be published following a major feedback to community and educational project being undertaken in June 2011. Other traits are under analysis.

The results of these studies should be broadly applicable to other WA Aboriginal communities, and could inform treatment and translational research strategies across Aboriginal and Torres Strait Islander communities.

Funders of the project: The NHMRC