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ISRN Otolaryngology
Volume 2012 (2012), Article ID 706896, 4 pages
Clinical Study

The -1364A/C Aquaporin 5 Gene Promoter Polymorphism Is Not Associated with Menière’s Disease

1Klinik für Hals-Nasen-Ohrenheilkunde, University of Duisburg-Essen, 45122 Essen, Germany
2Klinik für Anästhesiologie und Intensivmedizin, University of Duisburg-Essen and Universitätsklinikum Essen, 45122 Essen, Germany
3Institut für Pharmakogenetik, University of Duisburg-Essen, 45122 Essen, Germany

Received 21 July 2012; Accepted 3 September 2012

Academic Editors: A. Horii, B. Mazurek, and A. D. Rapidis

Copyright © 2012 Diana Arweiler-Harbeck et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Objective. Aquaporin 5 plays an important role in maintaining inner ear water and fluid homeostasis. Since the aquaporin (AQP) 5 promoter-1364A/C polymorphism is associated with altered AQP5 expression and this could impact upon key mechanisms of Menière’s disease, we tested the hypothesis that genotypes of the AQP5 promoter-1364A/C polymorphism are associated with the incidences of Menière’s disease (MD), familial Menière’s disease (FMD), or endolymphatic hydrops (EH). Methods. With approval of the local ethics committee, DNA of 102 patients (39 with MD, 54 with FMD, and 9 with EH) and of 292-matched Caucasian controls was isolated from blood samples and genotyped for the AQP 5 promoter-1364A/C polymorphism. The -test was applied to compare genotype distributions and allele frequencies between patients and controls. Results. Overall, genotype frequencies were not different between controls (AA 69%, AC 30%, CC 1%) and patients with MD AA: 65.7% (23 MD, 37 FMD, and 8 EH); AC: 23.5% (12 MD, 11 FMD, and 1 EH); CC: 3.9% (1 MD, 3 FMD, and 0 EH). However, subgroup analysis revealed the CC genotype to be more frequent in patients with FMD (5.9%) than in healthy controls (1%) ( ). Conclusions. Overall, genotypes of the -1364A/C AQP5 gene polymorphism are not associated with a significant increased risk for Menière’s disease.