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European Archives of Oto-Rhino-Laryngology

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11.11.2016 | Otology

Genetics of ion homeostasis in Ménière’s Disease

verfasst von: Roberto Teggi, Laura Zagato, Simona Delli Carpini, Lorena Citterio, Claudia Cassandro, Roberto Albera, Wen-Yi Yang, Jan A. Staessen, Mario Bussi, Paolo Manunta, Chiara Lanzani

Erschienen in: European Archives of Oto-Rhino-Laryngology | Ausgabe 2/2017

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Abstract

Aim of this work was to assess the role of polymorphisms belonging to genes involved in the regulation of ionic homeostasis in Caucasian patients with Ménière Disease (MD). We recruited 155 patients with definite Ménière Disease and 186 controls (Control Group 1) without a lifetime history of vertigo, overlapping with patients for age and rate of hypertension. We validated the positive results on 413 Caucasian subjects selected from a European general population (Control Group 2). The clinical history for migraine and hypertension was collected; genomic DNA was characterized for a panel of 33 SNPs encoding proteins involved in ionic transport. We found a higher rate of migraineurs in MD subjects compared to Group 1 (46.8 vs 15.5%, p = 0.00005). Four SNPs displayed differences in MD patients compared to Group 1 controls: rs3746951 and rs2838301 in SIK1 gene, rs434082 and rs487119 in SLC8A1; the p values of Chi-squared test for genotype frequencies are 0.009, 0.023, 0.009 and 0.048, respectively. SLC8A1 gene encodes for Na⁺-Ca⁺⁺ exchanger, while SIK1 gene encodes for Salt Inducible Kinase 1, an enzyme associated with Na⁺-K⁺ ATPase function. The validation with Control Group 2 displayed that only rs3746951 and rs487119 are strongly associated to MD (p = 0.001 and p = 0.0004, respectively). These data support the hypothesis that a genetically induced dysfunction of ionic transport may act as a predisposing factors to develop MD.

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Titel: Genetics of ion homeostasis in Ménière’s Disease
verfasst von: Roberto Teggi
Laura Zagato
Simona Delli Carpini
Lorena Citterio
Claudia Cassandro
Roberto Albera
Wen-Yi Yang
Jan A. Staessen
Mario Bussi
Paolo Manunta
Chiara Lanzani
Publikationsdatum: 11.11.2016
Verlag: Springer Berlin Heidelberg
Erschienen in: European Archives of Oto-Rhino-Laryngology / Ausgabe 2/2017
Print ISSN: 0937-4477
Elektronische ISSN: 1434-4726
DOI: https://doi.org/10.1007/s00405-016-4375-9

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Genetics of ion homeostasis in Ménière’s Disease

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