Vona Barbara, Nanda Indrajit, Shehata-Dieler Wafaa, Haaf Thomas
Institute of Human Genetics, Julius Maximilians University WürzburgWürzburg, Germany.
Plastic, Aesthetic and Reconstructive Surgery, Department of Otorhinolaryngology, Comprehensive Hearing Center, University Hospital WürzburgWürzburg, Germany.
Front Neurosci. 2017 May 8;11:236. doi: 10.3389/fnins.2017.00236. eCollection 2017.
Tinnitus is the perception of a phantom sound that affects between 10 and 15% of the general population. Despite this considerable prevalence, treatments for tinnitus are presently lacking. Tinnitus exhibits a diverse array of recognized risk factors and extreme clinical heterogeneity. Furthermore, it can involve an unknown number of auditory and non-auditory networks and molecular pathways. This complex combination has hampered advancements in the field. The identification of specific genetic factors has been at the forefront of several research investigations in the past decade. Nine studies have examined genes in a case-control association approach. Recently, a genome-wide association study has highlighted several potentially significant pathways that are implicated in tinnitus. Two twin studies have calculated a moderate heritability for tinnitus and disclosed a greater concordance rate in monozygotic twins compared to dizygotic twins. Despite the more recent data alluding to genetic factors in tinnitus, a strong association with any specific genetic locus is lacking and a genetic study with sufficient statistical power has yet to be designed. Future research endeavors must overcome the many inherent limitations in previous study designs. This review summarizes the previously embarked upon tinnitus genetic investigations and summarizes the hurdles that have been encountered. The identification of candidate genes responsible for tinnitus may afford gene based diagnostic approaches, effective therapy development, and personalized therapeutic intervention.
耳鸣是一种对幻听的感知,影响着10%至15%的普通人群。尽管患病率相当高,但目前仍缺乏耳鸣的治疗方法。耳鸣表现出一系列公认的风险因素和极端的临床异质性。此外,它可能涉及数量未知的听觉和非听觉网络以及分子途径。这种复杂的组合阻碍了该领域的进展。在过去十年中,特定遗传因素的识别一直是多项研究调查的前沿。九项研究采用病例对照关联方法对基因进行了检测。最近,一项全基因组关联研究突出了与耳鸣相关的几个潜在重要途径。两项双胞胎研究计算出耳鸣具有中等遗传度,并揭示同卵双胞胎的一致率高于异卵双胞胎。尽管最近的数据暗示了耳鸣中的遗传因素,但缺乏与任何特定基因座的强关联,并且尚未设计出具有足够统计效力的遗传研究。未来的研究必须克服先前研究设计中的许多固有局限性。本综述总结了先前开展的耳鸣遗传研究,并总结了所遇到的障碍。确定导致耳鸣的候选基因可能会提供基于基因的诊断方法、有效的治疗开发和个性化的治疗干预。