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

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...

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Autores principales: Arweiler-Harbeck, Diana, Saidi, Freschta, Lang, Stephan, Peters, Jürgen, Siffert, Winfried, Adamzik, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scholarly Research Network 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3671710/
https://www.ncbi.nlm.nih.gov/pubmed/23762616
http://dx.doi.org/10.5402/2012/706896
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author Arweiler-Harbeck, Diana
Saidi, Freschta
Lang, Stephan
Peters, Jürgen
Siffert, Winfried
Adamzik, Michael
author_facet Arweiler-Harbeck, Diana
Saidi, Freschta
Lang, Stephan
Peters, Jürgen
Siffert, Winfried
Adamzik, Michael
author_sort Arweiler-Harbeck, Diana
collection PubMed
description 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 χ (2)-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%) (P = 0.042). Conclusions. Overall, genotypes of the -1364A/C AQP5 gene polymorphism are not associated with a significant increased risk for Menière's disease.
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spelling pubmed-36717102013-06-12 The -1364A/C Aquaporin 5 Gene Promoter Polymorphism Is Not Associated with Menière's Disease Arweiler-Harbeck, Diana Saidi, Freschta Lang, Stephan Peters, Jürgen Siffert, Winfried Adamzik, Michael ISRN Otolaryngol Clinical Study 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 χ (2)-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%) (P = 0.042). Conclusions. Overall, genotypes of the -1364A/C AQP5 gene polymorphism are not associated with a significant increased risk for Menière's disease. International Scholarly Research Network 2012-10-16 /pmc/articles/PMC3671710/ /pubmed/23762616 http://dx.doi.org/10.5402/2012/706896 Text en Copyright © 2012 Diana Arweiler-Harbeck et al. https://creativecommons.org/licenses/by/3.0/ 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.
spellingShingle Clinical Study
Arweiler-Harbeck, Diana
Saidi, Freschta
Lang, Stephan
Peters, Jürgen
Siffert, Winfried
Adamzik, Michael
The -1364A/C Aquaporin 5 Gene Promoter Polymorphism Is Not Associated with Menière's Disease
title The -1364A/C Aquaporin 5 Gene Promoter Polymorphism Is Not Associated with Menière's Disease
title_full The -1364A/C Aquaporin 5 Gene Promoter Polymorphism Is Not Associated with Menière's Disease
title_fullStr The -1364A/C Aquaporin 5 Gene Promoter Polymorphism Is Not Associated with Menière's Disease
title_full_unstemmed The -1364A/C Aquaporin 5 Gene Promoter Polymorphism Is Not Associated with Menière's Disease
title_short The -1364A/C Aquaporin 5 Gene Promoter Polymorphism Is Not Associated with Menière's Disease
title_sort -1364a/c aquaporin 5 gene promoter polymorphism is not associated with menière's disease
topic Clinical Study
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3671710/
https://www.ncbi.nlm.nih.gov/pubmed/23762616
http://dx.doi.org/10.5402/2012/706896
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