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Nat Genet. 2015 Aug;47(8):917-20. doi: 10.1038/ng.3347. Epub 2015 Jun 29.

Rare A2ML1 variants confer susceptibility to otitis media.

Author information

1
Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
2
1] Philippine National Ear Institute, University of the Philippines Manila-National Institutes of Health, Manila, Philippines. [2] Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines.
3
Philippine National Ear Institute, University of the Philippines Manila-National Institutes of Health, Manila, Philippines.
4
Department of Otorhinolaryngology, Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, USA.
5
Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
6
1] Center for Public Health Genomics, University of Virginia School of Medicine, Charlottesville, Virginia, USA. [2] Department of Biochemistry and Molecular Genetics, University of Virginia, Charlottesville, Virginia, USA.
7
1] Institute of Human Genetics, University of the Philippines Manila-National Institutes of Health, Manila, Philippines. [2] Department of Pediatrics, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines.
8
Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines.
9
Department of Otolaryngology, Head and Neck Surgery, University of Minnesota, Minneapolis, Minnesota, USA.
10
Division of Pediatric Infectious Disease and Immunology, Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas, USA.
11
1] Center for Public Health Genomics, University of Virginia School of Medicine, Charlottesville, Virginia, USA. [2] Department of Biochemistry and Molecular Genetics, University of Virginia, Charlottesville, Virginia, USA. [3] Department of Public Health Sciences, University of Virginia, Charlottesville, Virginia, USA.

Abstract

A duplication variant within the middle ear-specific gene A2ML1 cosegregates with otitis media in an indigenous Filipino pedigree (LOD score = 7.5 at reduced penetrance) and lies within a founder haplotype that is also shared by 3 otitis-prone European-American and Hispanic-American children but is absent in non-otitis-prone children and >62,000 next-generation sequences. We identified seven additional A2ML1 variants in six otitis-prone children. Collectively, our studies support a role for A2ML1 in the pathophysiology of otitis media.

PMID:
26121085
PMCID:
PMC4528370
DOI:
10.1038/ng.3347
[Indexed for MEDLINE]
Free PMC Article

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