Sand, Philipp G. and Langguth, Berthold and Itzhacki, Jacob and Bauer, Angelika and Geis, Sandra and Cárdenas-Conejo, E. and Pimentel, Vanessa and Kleinjung, Tobias and Zuge, Elisabeth (2012) Resequencing of the auxiliary GABAB receptor subunit gene KCTD12 in chronic tinnitus. Frontiers in Systems Neuroscience 6, p. 41.
|License: Creative Commons Attribution Non-commercial|
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Tinnitus is a common and often incapacitating hearing disorder marked by the perception of phantom sounds. Susceptibility factors remain largely unknown but GABAB receptor signaling has long been implicated in the response to treatment and, putatively, in the etiology of the disorder. We hypothesized that variation in KCTD12, the gene encoding an auxiliary subunit of GABAB receptors, could help to predict the risk of developing tinnitus. Ninety-five Caucasian outpatients with a diagnosis of chronic tinnitus were systematically screened for mutations in the KCTD12 open reading frame and the adjacent 3′ untranslated region by Sanger sequencing. Allele frequencies were determined for 14 known variants of which three (rs73237446, rs34544607, and rs41287030) were polymorphic. When allele frequencies were compared to data from a large reference population of European ancestry, rs34544607 was associated with tinnitus (p = 0.04). However, KCTD12 genotype did not predict tinnitus severity (p = 0.52) and the association with rs34544607 was weakened after screening 50 additional cases (p = 0.07). Pending replication in a larger cohort, KCTD12 may act as a risk modifier in chronic tinnitus. Issues that are yet to be addressed include the effects of neighboring variants, e.g., in the KCTD12 gene regulatory region, plus interactions with variants of GABAB1 and GABAB2.
|Date:||25 May 2012|
|Institutions:|| Medicine > Lehrstuhl für Hals-Nasen-Ohren-Heilkunde|
Medicine > Lehrstuhl für Psychiatrie und Psychotherapie
|Projects:||Open Access Publizieren (DFG)|
|Keywords:||KCTD12, association analysis, tinnitus, cortical inhibition|
|Subjects:||600 Technology > 610 Medical sciences Medicine|
|Refereed:||Yes, this version has been refereed|
|Created at the University of Regensburg:||Yes|
|Deposited On:||07 Sep 2012 06:35|
|Last Modified:||20 Mar 2013 11:20|