Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/327875
Type: Artigo
Title: Meniere's Disease: Molecular Analysis Of Aquaporins 2, 3 And Potassium Channel Kcne1 Genes In Brazilian Patients
Author: Lopes
Karen de Carvalho; Sartorato
Edi Lucia; da Silva-Costa
Sueli M.; de Macedo Adamov
Nadya Soares; Gananca
Fernando Freitas
Abstract: 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.
Subject: Aquaporin 2
Aquaporin 3
Endolymphatic Hydrops
Meniere Disease
Potassium Channel
Editor: Lippincott Williams & Wilkins
Philadelphia
Citation: Otology & Neurotology. Lippincott Williams & Wilkins, v. 37, p. 1117 - 1121, 2016.
Rights: fechado
Identifier DOI: 10.1097/MAO.0000000000001136
Address: https://insights.ovid.com/pubmed?pmid=27509294
Date Issue: 2016
Appears in Collections:Unicamp - Artigos e Outros Documentos

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