Genetic susceptibility to chronic otitis media with effusion: Candidate gene single nucleotide polymorphisms

Authors

  • Carol J. MacArthur MD,

    Corresponding author
    1. Department of Otolaryngology–Head and Neck Surgery, Oregon Health and Science University, Portland, Oregon, U.S.A
    2. Oregon Hearing Research Center, Oregon Health and Science University, Portland, Oregon, U.S.A
    • Send correspondence to Carol J. MacArthur, MD, Associate Professor, Otolaryngology–Head and Neck Surgery, OHSU, 3181 SW Sam Jackson Park Rd., PV-01, Portland, OR 97239-3098. E-mail: macarthc@ohsu.edu

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  • Beth Wilmot PhD,

    1. Bioinformatics and Biostatistics, Oregon Clinical and Translational Research Institute, Oregon Health and Science University, Portland, Oregon, U.S.A
    2. Division of Bioinformatics and Computational Biology, Department of Clinical Epidemiology and Medical Informatics, Oregon Health and Science University, Portland, Oregon, U.S.A
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  • Linda Wang BS,

    1. School of Medicine, Oregon Health and Science University, Portland, Oregon, U.S.A
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  • Michael Schuller MS,

    1. Department of Otolaryngology–Head and Neck Surgery, Oregon Health and Science University, Portland, Oregon, U.S.A
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  • Jessyka Lighthall MD,

    1. Department of Otolaryngology–Head and Neck Surgery, Oregon Health and Science University, Portland, Oregon, U.S.A
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  • Dennis Trune PhD

    1. Department of Otolaryngology–Head and Neck Surgery, Oregon Health and Science University, Portland, Oregon, U.S.A
    2. Oregon Hearing Research Center, Oregon Health and Science University, Portland, Oregon, U.S.A
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  • Presented at Triological Society Meeting, Orlando, Florida, U.S.A., April 12, 2013.

  • This work was funded by the National Organization for Hearing Research Foundation and NIH--NIDCD R01 DC009455. C.J.M. and D.T. and are stockholders of 13Therapeutics.

  • The authors have no other funding, financial relationships, or conflicts of interest to disclose.

Abstract

Objectives/Hypothesis

The genetic factors leading to a predisposition to otitis media are not well understood. The objective of the current study was to develop a tag-single nucleotide polymorphism (SNP) panel to determine if there is an association between candidate gene polymorphisms and the development of chronic otitis media with effusion.

Study Design

A 1:1 case/control design of 100 cases and 100 controls was used. The study was limited to the chronic otitis media with effusion phenotype to increase the population homogeneity.

Methods

A panel of 192 tag-SNPs was selected. Saliva for DNA extraction was collected from 100 chronic otitis media with effusion cases and 100 controls. After quality control, 100 case and 79 control samples were available for hybridization. Genomic DNA from each subject was hybridized to the SNP probes, and genotypes were generated. Quality control across all samples and SNPs reduced the final SNPs used for analysis to 170. Each SNP was then analyzed for statistical association with chronic otitis media with effusion.

Results

Eight SNPs from four genes had an unadjusted P value of <.05 for association with the chronic otitis media with effusion phenotype (TLR4, MUC5B, SMAD2, SMAD4); five of these polymorphisms were in the TLR4 gene.

Conclusions

Even though these results need to be replicated in a novel population, the presence of five SNPs in the TLR4 gene having association with chronic otitis media with effusion in our study population lends evidence for the possible role of this gene in the susceptibility to otitis media.

Level of Evidence

NA. Laryngoscope, 124:1229–1235, 2014

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