Genetic Aspects Of Otosclerosis: Current Data On Predisposition, Candidate Genes, And Clinical Significance
Keywords:
otosclerosis, genetics, hereditary, predispositionAbstract
This article presents an analytical review of current evidence on the genetic aspects of otosclerosis. Otosclerosis is considered a disorder of pathological bone remodeling of the otic capsule that most commonly causes stapes fixation and conductive or mixed hearing loss. The reviewed literature indicates that the disease is characterized by familial aggregation, autosomal-dominant inheritance with incomplete penetrance in a subset of families, and a pronounced polygenic and multifactorial background. The beststudied genetic signals involve RELN, TGFB1, BMP2, BMP4, MEPE, ACAN, SERPINF1, and FOXL1. However, several associations have not been consistently replicated across populations, highlighting substantial genetic heterogeneity. It is concluded that genetic markers cannot yet replace clinical diagnosis, but they are valuable for risk stratification in familial cases, early-onset disease, and bilateral involvement, and they provide a scientific basis for future personalized approaches
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