Abstract

BackgroundPreviously rare A2ML1 variants were identified to confer otitis media susceptibility in an indigenous Filipino community and in otitis-prone US children. The goal of this study is to describe differences in the middle ear microbiome between carriers and non-carriers of an A2ML1 duplication variant that increases risk for chronic otitis media among indigenous Filipinos with poor health care access.MethodsEar swabs were obtained from 16 indigenous Filipino individuals with chronic otitis media, of whom 11 carry the A2ML1 duplication variant. Ear swabs were submitted for 16S rRNA gene sequencing.ResultsGenotype-based differences in microbial richness, structure, and composition were identified, but were not statistically significant. Taxonomic analysis revealed that the relative abundance of the phyla Fusobacteria and Bacteroidetes, and genus Fusobacterium were nominally increased in carriers compared to non-carriers, but were non-significant after correction for multiple testing. We also detected rare bacteria including Oligella that was reported only once in the middle ear.ConclusionsThese findings suggest that A2ML1-related otitis media susceptibility may be mediated by changes in the middle ear microbiome. Knowledge of middle ear microbial profiles according to genetic background can be potentially useful for therapeutic and prophylactic interventions for otitis media and can guide public health interventions towards decreasing otitis media prevalence within the indigenous Filipino community.Electronic supplementary materialThe online version of this article (doi:10.1186/s40249-016-0189-7) contains supplementary material, which is available to authorized users.

Highlights

  • Rare A2ML1 variants were identified to confer otitis media susceptibility in an indigenous Filipino community and in otitis-prone US children

  • In developed countries otitis media remains the top reason for health care visits and antibiotic use among children [1], while incidence and prevalence of otitis media are high in sub-Saharan Africa, Asia and in marginalized communities such as indigenous populations, where the burden of complications due to chronic otitis media is mostly felt [2]

  • Overall our findings suggest that the A2ML1 duplication variant may induce changes in the middle ear microbiome

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Summary

Introduction

Rare A2ML1 variants were identified to confer otitis media susceptibility in an indigenous Filipino community and in otitis-prone US children. A rare A2ML1 duplication variant c.2478_2485dupGGCTAAAT (p.(Ser829Trpfs*9)) confers susceptibility to otitis media in three European- or Hispanic-American children in Texas, USA and an indigenous Filipino population This variant co-segregated with different forms of otitis media in a six-generation pedigree within the indigenous Filipino community, which is highly intermarried due to socio-economic segregation and cultural discrimination and has a relatively homogeneous environmental background i.e., poor health care access and hygiene, lack of pneumococcal vaccination, crowded households and swimming in dirty seawater. In this population, known risk factors for otitis media including quantitative age, gender, nutrition and tobacco exposure were not associated with otitis media status [7]. The duplication variant occurred within a short haplotype that was common among the indigenous Filipinos and the US children, suggesting a founder variant that is estimated to be 1 800 years old and that may have occurred within the Filipino and US populations through Spanish colonization [6]

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