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Nat Commun. 2016 Sep 28;7:12792. doi: 10.1038/ncomms12792.

Genome-wide association study for acute otitis media in children identifies FNDC1 as disease contributing gene.

Author information

1
Department of Otolaryngology, Head and Neck Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam 3000 CA, The Netherlands.
2
The Generation R Study Group, Erasmus MC, University Medical Center Rotterdam, Rotterdam 3000 CA, The Netherlands.
3
Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
4
Department of Pediatrics, Erasmus MC, University Medical Center Rotterdam, Rotterdam 3000 CA, The Netherlands.
5
Department of Epidemiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam 3000 CA, The Netherlands.
6
Department of Computer Science, New Jersey Institute of Technology, Newark 07102, New Jersey, USA.
7
Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam 3000 CA, The Netherlands.
8
Department of Public Health, Erasmus MC, University Medical Center Rotterdam, Rotterdam 3000 CA, The Netherlands.
9
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
10
Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

Abstract

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.

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