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

Abstract EN

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 χ2-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.