Sarra E Jamieson, Jenefer M Blackwell, Harvey L Coates, Shyan Vijayasekaran, Steve Brown, Mahmood F Bhutta and Heather J Cordell
Otitis media (OM; or ear infection) is the most common illness-related reason for a visit to a medical practitioner by preschool children, for paediatric antibiotic use, and for surgery in childhood. Whilst 80% of children will suffer at least one episode of OM at some time before school age, around 40% will suffer from recurrent or chronic episodes of OM (i.e. severe OM) leading to an increased risk of conductive hearing loss, delayed language development and poor educational outcomes. Current medical and surgical treatments for OM are suboptimal and preventative interventions, such as vaccines, have had very limited impact to date. It is known that susceptibility to OM has a genetic component but the genes underlying this susceptibility are currently poorly described.
To determine the genes that play a role in childhood susceptibility to severe OM we established the Western Australian Family Study of OM. This study has recruited over 1000 children diagnosed with severe OM that required the surgical insertion of grommets. Using these samples along with data available from the Western Australian Pregnancy (Raine) Cohort Study we have identified several genes that play a key role in susceptibility to OM. This includes several genes that fall within the TGFβ and hypoxia pathways. This suggests that these two essential biological pathways play an important role in the development of OM and we are now following up the results of our genetic studies with functional analyses to determine the exact role of the genes involved.
Funding:
- The Raine Foundation
- Brightspark Foundation Fellowship
- UWA Research Development Award