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

Gijs van Ingen (), Jin Li, André Goedegebure, Rahul Pandey, Yun Rose Li, Michael E. March, Vincent W. V. Jaddoe, Marina Bakay, Frank D. Mentch, Kelly Thomas, Zhi Wei, Xiao Chang, Heather S. Hain, André G. Uitterlinden, Henriette A. Moll, Cornelia M. van Duijn, Fernando Rivadeneira, Hein Raat, Robert J. Baatenburg de Jong, Patrick M. Sleiman, Marc P. van der Schroeff and Hakon Hakonarson ()
Additional contact information
Gijs van Ingen: Head and Neck Surgery, Erasmus MC, University Medical Center Rotterdam
Jin Li: Center for Applied Genomics, Children’s Hospital of Philadelphia
André Goedegebure: Head and Neck Surgery, Erasmus MC, University Medical Center Rotterdam
Rahul Pandey: Center for Applied Genomics, Children’s Hospital of Philadelphia
Yun Rose Li: Center for Applied Genomics, Children’s Hospital of Philadelphia
Michael E. March: Center for Applied Genomics, Children’s Hospital of Philadelphia
Vincent W. V. Jaddoe: The Generation R Study Group, Erasmus MC, University Medical Center Rotterdam
Marina Bakay: Center for Applied Genomics, Children’s Hospital of Philadelphia
Frank D. Mentch: Center for Applied Genomics, Children’s Hospital of Philadelphia
Kelly Thomas: Center for Applied Genomics, Children’s Hospital of Philadelphia
Zhi Wei: New Jersey Institute of Technology
Xiao Chang: Center for Applied Genomics, Children’s Hospital of Philadelphia
Heather S. Hain: Center for Applied Genomics, Children’s Hospital of Philadelphia
André G. Uitterlinden: Erasmus MC, University Medical Center Rotterdam
Henriette A. Moll: Erasmus MC, University Medical Center Rotterdam
Cornelia M. van Duijn: Erasmus MC, University Medical Center Rotterdam
Fernando Rivadeneira: Erasmus MC, University Medical Center Rotterdam
Hein Raat: Erasmus MC, University Medical Center Rotterdam
Robert J. Baatenburg de Jong: Head and Neck Surgery, Erasmus MC, University Medical Center Rotterdam
Patrick M. Sleiman: Center for Applied Genomics, Children’s Hospital of Philadelphia
Marc P. van der Schroeff: Head and Neck Surgery, Erasmus MC, University Medical Center Rotterdam
Hakon Hakonarson: Center for Applied Genomics, Children’s Hospital of Philadelphia

Nature Communications, 2016, vol. 7, issue 1, 1-7

Abstract: 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.

Date: 2016
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DOI: 10.1038/ncomms12792

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