FBXO11, a regulator of the TGF beta pathway, is associated with severe otitis media in Western Australian children
MS Rye, SP Wiertsema, ESH Scaman, J Oommen, W Sun, RW Francis, W Ang, CE Pennell, D Burgner, P Richmond, S Vijayasekaran, HL Coates, SD Brown, JM Blackwell, SE Jamieson
Genes & Immunity | NATURE PUBLISHING GROUP | Published : 2011
Otitis media (OM) is a common childhood disease characterised by middle ear inflammation following infection. Susceptibility to recurrent acute OM (rAOM) and chronic OM with effusion (COME) is highly heritable. Two murine mutants, Junbo and Jeff, spontaneously develop severe OM with similar phenotypes to human disease. Fine-mapping of these mutants identified two genes (Evi1 and Fbxo11) that interact with the transforming growth factor β (TGFβ) signalling pathway. We investigated these genes, as well as four Sma- and Mad-related (SMAD) genes of the TGFβ pathway, as candidate rAOM/COME susceptibility genes in two predominantly Caucasian populations. Single-nucleotide polymorphisms (SNPs) with..View full abstract
Awarded by NHMRC
Awarded by Medical Research Council
We thank all the families who have participated in the Western Australian Family Study of Otitis Media study and the Raine Study. We also thank the Raine Study Team for cohort coordination and data collection. This work was supported by funds to SEJ from a Raine Medical Research Foundation Priming Grant at the University of Western Australia (UWA) and a UWA Research Award and core funds to JMB from The Stan Perron Foundation, UWA and the Western Australian State Government. MSR is supported by an Australian Post Graduate Scholarship; SEJ is funded by a Brightspark Foundation (WA) Fellowship. The Raine Study has been supported by the NH&MRC over the last 20 years with funding for Core Management provided by UWA, The Raine Medical Research Foundation at UWA, the UWA Faculty of Medicine, Dentistry and Health Sciences, the Telethon Institute for Child Health Research and the Women and Infants Research Foundation. Raine Study Illumina 660W-Quad Beadchip Data was supported by NH&MRC (Palmer et al, ID 572613).