Meniere's disease is associated with single nucleotide polymorphisms in the human potassium channel genes, KCNE1 and KCNE3
Meniere's disease is associated with single nucleotide polymorphisms in the human potassium channel genes, KCNE1 and KCNE3
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DOI：
10.1159/000089410
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发表时间：
2005-01-01
期刊：
影响因子：
--
通讯作者：
Kubo, T
中科院分区：
文献类型：
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作者：
Doi, K;Sato, T;Kubo, T
虽然散发性和遗传性梅尼埃病(MD)的基础仍未确定，但它可能是多因素的，其中一个因素是遗传易感性。近年来，复杂疾病的遗传关联研究非常流行，大多数是以单核苷酸多态(SNPs)为标记的病例对照研究。KCNE钾通道基因突变/多态可能在MD发病中起作用，因为KCNE钾通道在内耳的跨膜离子和水运输中存在并活跃。在本研究中，为了确定MD的易感基因，我们进行了优化抽样、优化表型/基因分型和选择KCNE基因作为候选基因的遗传关联研究。对63例确诊的MD患者和205例非MD对照组进行SNPs分析，发现KCNE1基因存在112G/A SNP，KCNE3基因存在198T/C SNP。对于KCNE1和KCNE3基因，在MD病例和非MD对照组受试者中，每个SNP的频率都有显著差异。结果表明，KCNE1基因的112G/A SNP和KCNE3基因的198T/C SNP可决定MD的易感性增加。版权所有(C)2005 S.Karger AG，巴塞尔。
Although the bases for both the sporadic and inherited forms of Meniere's disease (MD) remain undefined, it is likely to be multifactorial, one of the factors being a genetic predisposition. Recently, genetic association studies on complex diseases have become very popular and most of them are case-control studies using single nucleotide polymorphisms (SNPs) as markers. Mutations/ polymorphisms in KCNE potassium channel genes might play a causative role in MD, because KCNE potassium channels have been suggested to be present and active in transmembrane ion and water transports in the inner ear. In the present study, to identify MD susceptibility genes, we have conducted a genetic association study with optimized sampling, optimized phenotyping/genotyping, and a selection of KCNE genes as the candidate genes. The SNPs analyses identified 112G/A SNP in the KCNE1 gene and 198T/C SNP in the KCNE3 gene in 63 definite MD cases as well as 205 and 237 non-MD control subjects. For both KCNE1 and KCNE3 genes, a significant difference in frequency of each SNP was confirmed between MD cases and non-MD control subjects. The result indicates that 112G/A SNP in the KCNE1 gene and 198T/ C SNP in the KCNE3 gene could determine an increased susceptibility to develop MD. Copyright (C) 2005 S. Karger AG, Basel.