Department of Audiology and Phoniatrics, Nofer Institute of Occupational Medicine, Łódź, Poland.
Int J Occup Med Environ Health. 2012 Sep;25(4):356-64. doi: 10.2478/S13382-012-0061-3. Epub 2012 Dec 6.
Tinnitus is defined as a perception of sound in the absence of an external acoustic stimulus. Several factors are known to influence tinnitus, e.g. hearing loss, noise exposure, age, and hypertension. As only certain individuals develop tinnitus in the presence of the above risks and in approximately 50% of cases tinnitus is not attributed to any particular cause, the question arose whether this inter-individual susceptibility to tinnitus could be explained by the influence of genetic factors.
To test the hypothesis that genetic variability in genes of the potassium recycling pathway is associated with increased susceptibility to tinnitus.
The study group consisted of 626 subjects exposed to occupational noise (128 with tinnitus and 498 without tinnitus). 99 single nucleotide polymorphisms were investigated in 10 genes involved in the potassium recycling pathway in the inner ear, previously selected as putative noise-induced hearing loss (NIHL) candidate genes.
Nominally significant associations were obtained for 2 variants in KCNE1 (potassium voltage-gated channel, Isk-related family, member 1) and SLC12A2 (solute carrier family 12, member 2) genes. The first gene contributed to tinnitus that developed independently of hearing loss, while the second one was associated with increased susceptibility to noise-induced hearing loss.
Present findings lend support to the notion of potassium recycling pathway genes as possible risk modifiers of tinnitus in individuals with and without hearing loss. Due to the lack of replication in other independent populations these results should be seen as suggestive.
耳鸣被定义为在没有外部声刺激的情况下感知到声音。已知有几个因素会影响耳鸣,例如听力损失、噪声暴露、年龄和高血压。由于只有某些个体在存在上述风险的情况下会出现耳鸣,并且大约 50%的情况下耳鸣没有特定原因,因此出现了一个问题,即这种对耳鸣的个体易感性是否可以通过遗传因素的影响来解释。
测试假设,即钾循环途径基因的遗传变异性与耳鸣易感性增加有关。
研究组由 626 名接触职业噪声的受试者组成(128 名有耳鸣,498 名无耳鸣)。在先前被选为疑似噪声性听力损失(NIHL)候选基因的内耳钾循环途径中的 10 个基因中,研究了 99 个单核苷酸多态性。
在 KCNE1(钾电压门控通道,Isk 相关家族成员 1)和 SLC12A2(溶质载体家族 12,成员 2)基因中,获得了 2 个变体的名义显著关联。第一个基因有助于与听力损失无关的耳鸣的发展,而第二个基因与噪声性听力损失的易感性增加有关。
目前的研究结果支持钾循环途径基因作为有听力损失和无听力损失个体耳鸣的潜在风险修饰因子的概念。由于在其他独立人群中缺乏复制,这些结果应被视为提示性的。