doiSerbia

Genetic basis of otosclerosis

Zukić Branka (University of Belgrade, Institute of Molecular Genetics and Genetic Engineering, Laboratory for Molecular Biomedicine, Belgrade, Serbia)
Anđelković Marina (University of Belgrade, Institute of Molecular Genetics and Genetic Engineering, Laboratory for Molecular Biomedicine, Belgrade, Serbia)
Gašić Vladimir (University of Belgrade, Institute of Molecular Genetics and Genetic Engineering, Laboratory for Molecular Biomedicine, Belgrade, Serbia)
Grubin Jasmina (Ministry of Education, Science and Technological Development of the Republic of Serbia, Belgrade, Serbia)
Pavlović Sonja (University of Belgrade, Institute of Molecular Genetics and Genetic Engineering, Laboratory for Molecular Biomedicine, Belgrade, Serbia)
Đerić Dragoslava (University of Belgrade, Faculty of Medicine, Clinical Center of Serbia, Clinic for Otorhinolaryngology, Belgrade, Serbia)

Introduction. Otosclerosis is a disorder of the bone labyrinth and stapes resulting in conductive hearing loss. The genetic basis of otosclerosis still remains unknown. We aimed at reporting a comprehensive review of up-to-date knowledge on genetic basis of otosclerosis. Methods. Narrative literature review was undertaken to summarize the data about genetics of otosclerosis. Results. Genetics of otosclerosis has not been studied extensively and the literature on this topic is scarce. However, knowledge of genetic basis of otosclerosis is recently increasing. We have presented an overview of the knowledge of association of genetic markers with otosclerosis, gained from linkage analyses, candidate-gene studies, and modern high-throughput genomic studies. Conclusion. Due to its complex pathophysiology, otosclerosis is not a disease whose genetic base will be easily understood. Multiple omics analysis and bioinformatics will lead to elucidation of genetic basis of otosclerosis.

Keywords: otosclerosis, genetics, linkage analyses, candidate-gene studies, high-throughput genomic studies

Project of the Serbian Ministry of Education, Science and Technological Development, Grant no. 451-03-68/2020-14/200042