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BMC Med Genet. 2011 Sep 26;12:124. doi: 10.1186/1471-2350-12-124.

Significant linkage at chromosome 19q for otitis media with effusion and/or recurrent otitis media (COME/ROM).

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1
Center for Public Health Genomics, University of Virginia, Charlottesville, VA 22908, USA.

Abstract

BACKGROUND:

In previous analyses, we identified a region of chromosome 19 as harboring a susceptibility locus for chronic otitis media with effusion and/or recurrent otitis media (COME/ROM). Our aim was to further localize the linkage signal and ultimately identify the causative variant or variants. We followed up our previous linkage scan with dense SNP genotyping across in a 5 Mb region. A total of 607 individuals from 139 families, including 159 affected sib pairs and 62 second-degree affected relative pairs, were genotyped at 1,091 SNPs. We carried out a nonparametric linkage analysis, modeling marker-to-marker linkage disequilibrium.

RESULTS:

The maximum log of the odds (LOD) score increased to 3.75 (P = 1.6 × 10(-5)) at position 63.4 Mb, with a LOD-1 support interval between 61.6 Mb and 63.8 Mb, providing significant evidence of linkage between this region and COME/ROM. The support interval contains over 90 known genes, including several genes involved in the inflammasome protein complex, a key regulator of the innate immune response to harmful exogenous or endogenous stimuli. Parametric linkage analysis suggests that for a sib of an affected individual, the recurrence risk of COME/ROM due to this linkage region is twice the recurrence risk in the population. We examined potential associations between the SNPs genotyped in this region and COME/ROM, however none provided evidence for association.

CONCLUSION:

This study has refined the 19q region of linkage with COME/ROM, and association results suggest that the linkage signal may be due to rare variants.

PMID:
21943191
PMCID:
PMC3191346
DOI:
10.1186/1471-2350-12-124
[Indexed for MEDLINE]
Free PMC Article

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