Oulu Center for Cell-Matrix Research, Biocenter and Department of Medical Biochemistry and Molecular Biology, Institute of Biomedicine, University of Oulu, Finland.
Int J Audiol. 2012 Nov;51(11):841-5. doi: 10.3109/14992027.2012.705900. Epub 2012 Aug 30.
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.
A well-defined sample set of 38 sporadic and 21 familial Finnish MD patients.
Mutation analysis, case-control study, and review of literature.
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.
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.
已提出多种候选基因用于梅尼埃病（MD），但迄今为止尚无阳性复制报道。我们在此回顾了所有先前提出的 MD 候选基因，并报告了我们对 6 个候选基因（AQP2、KCNE1、KCNE3、HCFC1、COCH 和 ADD1）的分析结果。
38 例散发性和 21 例家族性芬兰 MD 患者的明确样本集。
突变分析、病例对照研究和文献复习。
钾通道基因 KCNE1 中的 rs1805127 多态性与散发性 MD 相关（p = 0.011），但与家族性 MD 无关（p = 0.62）。此外，我们在 KCNE1 基因中发现了四个新的独特变异。PolyPhen 和 Mutation Taster 分析表明，至少有一个变异 c.259T > C；p.Trp87Arg 可能对编码蛋白有害。
我们对报告的候选基因的综述表明，目前对导致 MD 发生的遗传因素的理解有限，对其病因的研究将从更全面的遗传知识中受益匪浅。
