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

Carol J. MacArthur, Beth Wilmot, Linda Wang, Michael Schuller, Jessyka Lighthall, Dennis Trune

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1229-1235
Number of pages7
JournalLaryngoscope
Volume124
Issue number5
DOIs
StatePublished - May 2014

Keywords

  • Otitis media
  • genetics
  • innate immune system
  • single nucleotide polymorphisms

ASJC Scopus subject areas

  • Otorhinolaryngology

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