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Rare A2ML1 variants confer susceptibility to otitis media
Regie Lyn P Santos-Cortez1, Charlotte M Chiong2, Ma Rina T Reyes-Quintos2
1Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Nature Genetics
|June 30, 2015
Summary
A gene variant in A2ML1 is linked to otitis media, a common ear infection. This finding in Filipino and American children suggests A2ML1 plays a role in ear infection development.
Area of Science:
- Genetics
- Otolaryngology
- Molecular Biology
Background:
- Otitis media (OM) is a prevalent childhood infection, often recurrent.
- The genetic underpinnings of otitis media susceptibility require further elucidation.
Purpose of the Study:
- To investigate the role of the gene A2ML1 in the pathophysiology of otitis media.
- To identify genetic variants associated with otitis media susceptibility.
Main Methods:
- Family-based linkage analysis in an indigenous Filipino pedigree.
- Segregation analysis of A2ML1 variants.
- Case-control association study comparing otitis-prone children with controls.
- Next-generation sequencing data analysis.
Main Results:
- A duplication variant in A2ML1 cosegregated with otitis media in a Filipino family (LOD score = 7.5).
- This variant was located within a founder haplotype shared by otitis-prone children of diverse ethnicities but absent in controls.
- Seven additional A2ML1 variants were identified in six otitis-prone children.
Conclusions:
- Genetic variations in A2ML1 are associated with otitis media susceptibility.
- A2ML1 is implicated in the pathophysiology of otitis media.
- Further research into A2ML1's function may reveal novel therapeutic targets for otitis media.
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