OBJECTIVE: Multiple candidate genes have been presented for Ménière's disease (MD), but to date no positive replications have been reported. We review here all the previously proposed candidate genes for MD and report our results on the analysis of six such genes, AQP2, KCNE1, KCNE3, HCFC1, COCH, and ADD1. STUDY SAMPLE: A well-defined sample set of 38 sporadic and 21 familial Finnish MD patients. DESIGN: Mutation analysis, case-control study, and review of literature. RESULTS: A polymorphism rs1805127 in the potassium channel gene, KCNE1, was associated with MD in sporadic (p = 0.011), but not familial patients (p = 0.62). In addition, we identified four novel unique variations in the KCNE1 gene. PolyPhen and Mutation Taster analyses indicated that at least one of the variations c.259T > C; p.Trp87Arg is probably damaging to the coded protein. CONCLUSIONS: Our review of the reported candidate genes shows that the current understanding of the genetic factors contributing to the development of MD is limited, and that the study of its etiology would benefit greatly from more comprehensive genetic knowledge.
OBJECTIVE: Multiple candidate genes have been presented for Ménière's disease (MD), but to date no positive replications have been reported. We review here all the previously proposed candidate genes for MD and report our results on the analysis of six such genes, AQP2, KCNE1, KCNE3, HCFC1, COCH, and ADD1. STUDY SAMPLE: A well-defined sample set of 38 sporadic and 21 familial Finnish MD patients. DESIGN: Mutation analysis, case-control study, and review of literature. RESULTS: A polymorphism rs1805127 in the potassium channel gene, KCNE1, was associated with MD in sporadic (p = 0.011), but not familial patients (p = 0.62). In addition, we identified four novel unique variations in the KCNE1 gene. PolyPhen and Mutation Taster analyses indicated that at least one of the variations c.259T > C; p.Trp87Arg is probably damaging to the coded protein. CONCLUSIONS: Our review of the reported candidate genes shows that the current understanding of the genetic factors contributing to the development of MD is limited, and that the study of its etiology would benefit greatly from more comprehensive genetic knowledge.
Authors: Rabia Faridi; Risa Tona; Alessandra Brofferio; Michael Hoa; Rafal Olszewski; Isabelle Schrauwen; Muhammad Z K Assir; Akhtar A Bandesha; Asma A Khan; Atteeq U Rehman; Carmen Brewer; Wasim Ahmed; Suzanne M Leal; Sheikh Riazuddin; Steven E Boyden; Thomas B Friedman Journal: Hum Mutat Date: 2018-12-12 Impact factor: 4.878
Authors: Sonia Cabrera; Elena Sanchez; Teresa Requena; Manuel Martinez-Bueno; Jesus Benitez; Nicolas Perez; Gabriel Trinidad; Andrés Soto-Varela; Sofía Santos-Perez; Eduardo Martin-Sanz; Jesus Fraile; Paz Perez; Marta E Alarcon-Riquelme; Angel Batuecas; Juan M Espinosa-Sanchez; Ismael Aran; Jose A Lopez-Escamez Journal: PLoS One Date: 2014-11-14 Impact factor: 3.240
Authors: Lidia Frejo; Teresa Requena; Satoshi Okawa; Alvaro Gallego-Martinez; Manuel Martinez-Bueno; Ismael Aran; Angel Batuecas-Caletrio; Jesus Benitez-Rosario; Juan M Espinosa-Sanchez; Jesus José Fraile-Rodrigo; Ana María García-Arumi; Rocío González-Aguado; Pedro Marques; Eduardo Martin-Sanz; Nicolas Perez-Fernandez; Paz Pérez-Vázquez; Herminio Perez-Garrigues; Sofía Santos-Perez; Andres Soto-Varela; Maria C Tapia; Gabriel Trinidad-Ruiz; Antonio Del Sol; Marta E Alarcon Riquelme; Jose A Lopez-Escamez Journal: Front Immunol Date: 2017-12-13 Impact factor: 7.561