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Mucin gene polymorphisms in otitis media patients.

ABSTRACT: Mucin genes MUC2, MUC5AC, and MUC5B have been identified as major gel-forming mucins in the middle ear (ME). This study compared polymorphisms in MUC2, MUC5AC, and MUC5B genes in otitis media (OM) patients and controls.Cross-sectional case-control study. Patients age 6 months to 14 years undergoing routine tympanostomy tube insertion for recurrent otitis media (RecOM) or chronic otitis media with effusion (OME) were compared to control patients with no history of OM undergoing an unrelated procedure.Genomic DNA extracted from peripheral blood samples was analyzed by Southern blots using gene-specific probes to determine sizes of MUC2 and MUC5AC genes. Polymerase chain reaction was used to determine the size of MUC5B genes.Twenty RecOM patients, 20 OME patients, and 40 control patients were analyzed. There were no statistically significant differences in polymorphism expression identified between groups for MUC2 and MUC5B genes. OME patients were more likely than controls or RecOM patients to carry the longer MUC5AC-b allele.Differences in mucin polymorphisms have been demonstrated in other diseases. In otitis media, OME patients are more likely than controls or RecOM to carry the longer MUC5AC-b allele. MUC5AC is a primary innate defense mechanism for ME epithelium, and alterations in protein structure have the potential to affect that defense and predispose patients to disease. This study demonstrates that the properties of post-transcriptionally modified MUC5AC deserve further study, and specific pathogen-host interactions studies should explore the impact of this polymorphism.

SUBMITTER: Ubell ML

PROVIDER: S-EPMC2919485 | biostudies-literature | 2010 Jan

REPOSITORIES: biostudies-literature

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Mucin gene polymorphisms in otitis media patients.

Ubell Matthew L ML Khampang Pawjai P Kerschner Joseph E JE

The Laryngoscope 20100101 1

<h4>Objectives/hypothesis</h4>Mucin genes MUC2, MUC5AC, and MUC5B have been identified as major gel-forming mucins in the middle ear (ME). This study compared polymorphisms in MUC2, MUC5AC, and MUC5B genes in otitis media (OM) patients and controls.<h4>Study design</h4>Cross-sectional case-control study. Patients age 6 months to 14 years undergoing routine tympanostomy tube insertion for recurrent otitis media (RecOM) or chronic otitis media with effusion (OME) were compared to control patients ...[more]

PMID: 19718741

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Project description:Nontypeable Haemophilus influenzae (NTHi) colonize the human pharynx asymptomatically, and are also an important cause of otitis media (OM). Previous studies have demonstrated that some genes are more prevalent in OM-causing NTHi strains than in commensal strains, suggesting a role in virulence. These studies, however, are unable to investigate the possible associations between gene polymorphisms and disease. This study examined amino acid polymorphisms and sequence diversity in a potential virulence gene, the hemin receptor hemR, from a previously characterized NTHi strain collection containing both commensal and OM organisms to identify possible associations between the polymorphisms and otitis media. The full open reading frame of hemR was sequenced from a total of 146 NTHi isolates, yielding a total of 47 unique HemR amino acid sequences. The predicted structure of HemR showed substantial similarity to a class of monomeric TonB dependent, ligand-gated channels involved in iron acquisition in other gram negative bacteria. Fifteen amino acid polymorphisms were significantly more prevalent at the 90% confidence level among commensal compared to OM isolates. Upon controlling for the confounding effect of population structure, over half of the polymorphism-otitis media relationships lost statistical significance, emphasizing the importance of assessing the effect of population structure in association studies. The seven polymorphisms that retained significance were dispersed throughout the protein in various functional and structural domains, including the signal peptide, N-terminal plug domain, and intra- and extracellular loops. The alternate amino acid of only one of these seven polymorphisms was more common among OM isolates, demonstrating a strong trend toward the consensus sequence among disease causing NTHi. We hypothesize that variability at these positions in HemR may result in a reduced ability to acquire iron, rendering NTHi with such versions of the gene less fit for survival in the middle ear environment.

Dataset Information

Mucin gene polymorphisms in otitis media patients.

Publications

Mucin gene polymorphisms in otitis media patients.

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