Acute otitis media (AOM) is among the most common pediatric diseases, and the most frequent reason for antibiotic treatment in children. Risk of AOM is dependent on environmental and host factors, as well as a significant genetic component. We identify genome-wide significance at a locus on 6q25.3 (rs2932989, Pmeta=2.15 × 10-09), and show that the associated variants are correlated with the methylation status of the FNDC1 gene (cg05678571, P=1.43 × 10-06), and further show it is an eQTL for FNDC1 (P=9.3 × 10-05). The mouse homologue, Fndc1, is expressed in middle ear tissue and its expression is upregulated upon lipopolysaccharide treatment. In this first GWAS of AOM and the largest OM genetic study to date, we identify the first genome-wide significant locus associated with AOM.,
Nature Communications
Department of Otorhinolaryngology

Van Ingen, G., Li, J. (Jin), Goedegebure, A., Pandey, R. (Rahul), Rose Li, Y. (Yun), March, K., … Hakonarson, H. (2016). Genome-wide association study for acute otitis media in children identifies FNDC1 as disease contributing gene. Nature Communications, 7. doi:10.1038/ncomms12792