Otosclerosis is a relatively common cause of hearing impairment, characterized by abnormal bone remodeling of the middle and inner ear. In about 50–60% of the patients, the disease is present in a familial form. In most of these families, otosclerosis seems to be caused by a small number of genetic factors (oligogenic) while only in a small number of families the disease seems to be truly monogenic. In the remaining patients a complex genetic form of otosclerosis is present. Several studies have aimed to identify the genetic factors underlying otosclerosis, which has led to the identification of eight published loci for monogenic otosclerosis, as well as several genes and one chromosomal region (11q13.1) with a clear association with otosclerosis. Implementation of next-generation sequencing (NGS) in otosclerosis research has led to the identification of pathogenic variants in MEPE, ACAN and SERPINF1, although the pathogenic role of the latter is under debate. In addition, a recent GWAS can be considered a breakthrough for otosclerosis as it identified several strong associations with otosclerosis and suggested new potential candidate genes. These recent findings are important for unraveling the genetic architecture of otosclerosis. More future studies will help to understand the complete pathogenesis of the disease.

耳硬化症是一种相对常见的听力障碍原因，其特征是中耳和内耳的骨重塑异常。在大约 50-60% 的患者中，该疾病以家族形式存在。在大多数这些家庭中，耳硬化症似乎是由少数遗传因素（寡基因）引起的，而只有少数家庭的疾病似乎是真正的单基因。在其余患者中，存在复杂的耳硬化遗传形式。几项研究旨在确定耳硬化症的遗传因素，从而确定了八个已发表的单基因耳硬化症基因座，以及与耳硬化症有明显关联的几个基因和一个染色体区域 (11q13.1)。MEPE 、ACAN和SERPINF1，尽管后者的致病作用仍在争论中。此外，最近的 GWAS 可以被认为是耳硬化症的一个突破，因为它确定了与耳硬化症的几个强烈关联，并提出了新的潜在候选基因。这些最近的发现对于解开耳硬化症的遗传结构很重要。未来更多的研究将有助于了解该疾病的完整发病机制。