耳硬化症发病机制的遗传学和分子生物学研究

Genetic and Molecular Biology Research on the Pathogenesis of Otosclerosis

耳硬化症是一种伴有外显率减少的常染色体显性疾病,近40%~50%临床病例是没有家族遗传病史的散发病例,是由遗传因素和环境因素共同作用的复杂的遗传性疾病。遗传因素包括分子途径(包括骨质重建、免疫途径、炎性因素、内分泌途径),这些因素对耳硬化症的发展起一定作用。

Otosclerosis is an autosomal dominant disease with reduced penetrance,but approximately 40%-50%of clinical cases are sporadic without a family history of the disease.Many studies suggest that otosclerosis is a complex genetic disorder caused by the combined effects of genetic and environmental factors.Genetic factors include molecular pathways,such as bone remodeling,immune pathways,inflammatory factors,and endocrine pathways,which play a role in the development of otosclerosis.