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Link to original content: https://pubmed.ncbi.nlm.nih.gov/21899751
Deep resequencing of the voltage-gated potassium channel subunit KCNE3 gene in chronic tinnitus - PubMed Skip to main page content
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Comparative Study
. 2011 Sep 7:7:39.
doi: 10.1186/1744-9081-7-39.

Deep resequencing of the voltage-gated potassium channel subunit KCNE3 gene in chronic tinnitus

Affiliations
Comparative Study

Deep resequencing of the voltage-gated potassium channel subunit KCNE3 gene in chronic tinnitus

Philipp G Sand et al. Behav Brain Funct. .

Abstract

Membrane-stabilizing drugs have long been used for the treatment of chronic tinnitus, suggesting an underlying disturbance of sensory excitability due to changes in ion conductance. The present study addresses the potassium channel subunit gene KCNE3 as a potential candidate for tinnitus susceptibility. 288 Caucasian outpatients with a diagnosis of chronic tinnitus were systematically screened for mutations in the KCNE3 open reading frame and in the adjacent region by direct sequencing. Allele frequencies were determined for 11 known variants of which two (F66F and R83H) were polymorphic but were not associated with the disorder. No novel variants were identified and only three carriers of R83H were noted. However, owing to a lack of power, our study can neither rule out effects of KCNE3 on the risk for developing chronic tinnitus, nor can it exclude a role in predicting the severity of tinnitus. More extensive investigations are invited, including tests for possible effects of variation in this ion channel protein on the response to treatment.

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Figures

Figure 1
Figure 1
Evolutionary conservation of the KCNE3 amplicon under study. The degree of conservation (PhastCons score) is plotted against the physical position based on genomic sequence information from 46 placental mammals. Both g.15,190T>C (rs2270676 encoding F66F) and g.15,240G>A (rs17215437 encoding R83H) map to a highly conserved part of the open reading frame. The ORF is delimited by positions 74,168,608 and 74,168,296 on the February 2009 Homo sapiens high coverage assembly (Hg19) from the Genome Reference Consortium (GRCh37).

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