Presented at Triological Society Meeting, Orlando, Florida, U.S.A., April 12, 2013.
Genetic susceptibility to chronic otitis media with effusion: Candidate gene single nucleotide polymorphisms
Article first published online: 2 OCT 2013
© 2013 The American Laryngological, Rhinological and Otological Society, Inc.
Volume 124, Issue 5, pages 1229–1235, May 2014
How to Cite
MacArthur, C. J., Wilmot, B., Wang, L., Schuller, M., Lighthall, J. and Trune, D. (2014), Genetic susceptibility to chronic otitis media with effusion: Candidate gene single nucleotide polymorphisms. The Laryngoscope, 124: 1229–1235. doi: 10.1002/lary.24349
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.
- Issue published online: 18 APR 2014
- Article first published online: 2 OCT 2013
- Accepted manuscript online: 8 AUG 2013 07:33AM EST
- Manuscript Accepted: 18 JUL 2013
- National Organization for Hearing Research Foundation . Grant Number: NIH-NIDCD R01 DC009455
- c.j.m. and d.t. are stockholders of 13Therapeutics.
- Otitis media;
- single nucleotide polymorphisms;
- innate immune system
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.
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.
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.
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.
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