A mouse-to-man candidate gene study identifies association of chronic otitis media with the loci TGIF1 and FBXO11

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Bhutta , M F , Lambie , J , Hobson , L , Goel , A , Hafren , L , Einarsdottir , E , Mattila , P S , Farrall , M , Brown , S & Burton , M J 2017 , ' A mouse-to-man candidate gene study identifies association of chronic otitis media with the loci TGIF1 and FBXO11 ' , Scientific Reports , vol. 7 , 12496 . https://doi.org/10.1038/s41598-017-12784-8

Title: A mouse-to-man candidate gene study identifies association of chronic otitis media with the loci TGIF1 and FBXO11
Author: Bhutta, Mahmood F.; Lambie, Jane; Hobson, Lindsey; Goel, Anuj; Hafren, Lena; Einarsdottir, Elisabet; Mattila, Petri S.; Farrall, Martin; Brown, Steve; Burton, Martin J.
Contributor: University of Helsinki, Clinicum
University of Helsinki, Research Programs Unit
University of Helsinki, Clinicum
Date: 2017-10-02
Language: eng
Number of pages: 7
Belongs to series: Scientific Reports
ISSN: 2045-2322
URI: http://hdl.handle.net/10138/227974
Abstract: Chronic otitis media with effusion (COME) is the most common cause of hearing loss in children, and known to have high heritability. Mutant mouse models have identified Fbxo11, Evi1, Tgif1, and Nisch as potential risk loci. We recruited children aged 10 and under undergoing surgical treatment for COME from 35 hospitals in the UK, and their nuclear family. We performed association testing with the loci FBXO11, EVI1, TGIF1 and NISCH and sought to replicate significant results in a case-control cohort from Finland. We tested 1296 families (3828 individuals), and found strength of association with the T allele at rs881835 (p = 0.006, OR 1.39) and the G allele at rs1962914 (p = 0.007, OR 1.58) at TGIF1, and the A allele at rs10490302 (p = 0.016, OR 1.17) and the G allele at rs2537742 (p = 0.038, OR 1.16) at FBXO11. Results were not replicated. This study supports smaller studies that have also suggested association of otitis media with polymorphism at FBX011, but this is the first study to report association with the locus TGIF1. Both FBX011 and TGIF1 are involved in TGF-beta signalling, suggesting this pathway may be important in the transition from acute to chronic middle ear inflammation, and a potential molecular target.
Subject: TGF-BETA
EFFUSION
LINKAGE
SUSCEPTIBILITY
INFLAMMATION
EXPRESSION
MUTATION
TRAITS
DESIGN
3125 Otorhinolaryngology, ophthalmology
3111 Biomedicine
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