Aboriginal Genetics and Health Genome-wide association and sequencing studies

Welcome to the Aboriginal Genetics and Health Genome-wide association and sequencing studies site (AGHS). Below you will find links to each project and supporting documentation.


Files for download

https://www.ebi.ac.uk/ega/dataproviders/EGAO00000000341

Project 1: Family Study of Ear Health and Metabolic Disease in a Western Australian Aboriginal Population

Publications arising from this study

  1. Denise Anderson , Heather J. Cordell , Michaela Fakiola , Richard W. Francis, Genevieve Syn, Elizabeth S. H. Scaman, Elizabeth Davis, Simon J. Miles, Toby McLeay, Sarra E. Jamieson and Jenefer M. Blackwell. (2015) First Genome-Wide Association Study in an Australian Aboriginal Population Provides Insights into Genetic Risk Factors for Body Mass Index and Type 2 Diabetes. PLoS ONE 10(3): e0119333. doi:10.1371/journal.pone.0119333 PMID: 25760438. Data at EGA: https://www.ebi.ac.uk/ega/studies/EGAS00001001004
  2. Dave Tang, Denise Anderson, Richard W. Francis, Genevieve Syn, Sarra E. Jamieson, Timo Lassmann and Jenefer M. Blackwell. (2016) Genotype and exome data for an Australian Aboriginal population: a reference panel for health-based research. Scientific Data. 3:160023. doi: 10.1038/sdata.2016.23. PMID: 27070114. Data at EGA: https://www.ebi.ac.uk/ega/studies/EGAS00001001585
  3. Dave Tang, Michaela Fakiola, Genevieve Syn, Denise Anderson, Elizabeth S. H. Scaman, Elizabeth Davis, Simon J. Miles, Toby McLeay, Sarra E. Jamieson, Timo Lassmann and Jenefer M. Blackwell. (2017) Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians. Manuscript submitted. (Utilises data from Publications 1 and 2).

Project 2: Genome-wide analysis of genetic risk factors for rheumatic heart disease in Australian Aboriginal populations from the Northern Territory

Publications arising from this study

  1. Lesley-Ann Gray, Heather D'Antoine, Steven Tong, Melita McKinnon, Dawn Bessarab, Niagre Brown, Bo Reményi, Andrew Steer, Genevieve Syn, Jenefer M. Blackwell, Michael Inouye, Jonathan R. Carapetis. (2017) A genome-wide association study of rheumatic heart disease in Aboriginal Australians provides support for pathogenic molecular mimicry. Journal of Infectious Diseases, DOI:10.1093/infdis/jix497. PMID: 29029143.

Contact

Please contact Dr Sarra Jamieson for further information. Email: AGHS @ telethonkids.org.au