Meniere's Disease: Molecular Analysis of Aquaporins 2, 3 and Potassium Channel KCNE1 Genes in Brazilian Patients

Meniere's Disease: Molecular Analysis of Aquaporins 2, 3 and Potassium Channel KCNE1 Genes in Brazilian Patients

Author Lopes, Karen de Carvalho Autor UNIFESP Google Scholar
Sartorato, Edi Lucia Google Scholar
da Silva-Costa, Sueli M. Google Scholar
de Macedo Adamov, Nadya Soares Google Scholar
Gananca, Fernando Freitas Autor UNIFESP Google Scholar
Abstract Objectives: Meniere's disease (MD) is a complex disease of unknown etiology characterized by a symptomatic tetrad of vertigo, hearing loss, tinnitus, and aural fullness. In addition to factors related to homeostasis of the inner ear, genetic factors have been implicated in its pathophysiology, including genes related to the transport of water and ionic composition maintenance of the endolymph, such as the aquaporin genes AQP2 and AQP3, and the potassium channel gene KCNE1. The aim of this study was to identify polymorphisms of these genes and determine their association with clinical characteristics of patients with MD. Design: A case-control genetic association study was carried out, including 30 patients with definite Meniere's disease and 30 healthy controls. The coding regions of the target genes were amplified from blood samples by polymerase chain reaction (PCR), followed by direct sequencing. The associations of polymorphisms with clinical characteristics were analyzed with logistic regression. Results: Five polymorphisms were identified: rs426496 in AQP2

rs591810 in AQP3

and rs1805127, rs1805128, and rs17173510 in KCNE1. After adjustment, rs426496 was significantly associated with tinnitus during the initial crisis and with altered electronystagmography, and rs1805127 was significantly associated with nephropathy. Conclusions: The genetic variant rs426496 in AQP2

rs591810 in AQP3 and rs1805127, rs1805128, and rs17173510, in KCNE1 were found in patients with Meniere's disease. The polymorphism rs426496, in AQP2, is associated with tinnitus at the onset of Meniere's disease and altered electronystagmography. In addition, rs1805127, in KCNE1, is associated with the presence of nephropathy.
Keywords Aquaporin 2
Aquaporin 3
Endolymphatic hydrops
Meniere disease
Potassium channel
Language English
Date 2016
Published in Otology & Neurotology. Philadelphia, v. 37, n. 8, p. 1117-1121, 2016.
ISSN 1531-7129 (Sherpa/Romeo, impact factor)
Publisher Lippincott Williams & Wilkins
Extent 1117-1121
Origin http://dx.doi.org/10.1097/MAO.0000000000001136
Access rights Closed access
Type Article
Web of Science ID WOS:000382236800032
URI http://repositorio.unifesp.br/handle/11600/51135

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