72 -10 (84) 2025 - Khushvakova N.J., Khamrakulova N.O. - GENETIC ASPECTS OF OTOSCLEROSIS INVOLVING THE TGFB1 GENE

GENETIC ASPECTS OF OTOSCLEROSIS INVOLVING THE TGFB1 GENE

Khushvakova N.J. - Samarkand State Medical University

Khamrakulova N.O. - Samarkand State Medical University

Makhmudova S.K. - Samarkand State Medical University

Khakimov N.K. - Samarkand State Medical University

Resume

Otosclerosis is one of the most common causes of progressive hearing loss, characterized by impaired bone remodeling in the otic capsule. Recent studies highlight the significant role of genetic factors in the pathogenesis of the disease. Particular attention is given to the TGFB1 gene, which regulates bone remodeling, osteogenesis, and fibrosis. Polymorphisms of TGFB1 have been associated with an increased risk of otosclerosis, as confirmed by population-based studies. Molecular and genetic analysis of this gene provides deeper insights into the mechanisms of pathological lesion formation and opens prospects for the development of personalized diagnostic and therapeutic approaches. A review of current data on the role of TGFB1 in the pathogenesis of otosclerosis emphasizes the importance of a genetic perspective in studying this condition.

Key words: otosclerosis, genetics, TGFB1, bone remodeling, polymorphism, hearing loss.

First page

400

Last page

407

For citation:Khushvakova N.J., Khamrakulova N.O., Makhmudova S.K., Khakimov N.K. - GENETIC ASPECTS OF OTOSCLEROSIS INVOLVING THE TGFB1 GENE//New Day in Medicine 10(84)2025 400-407 https://newdayworldmedicine.com/en/new_day_medicine/10-84-2025

List of References

  1. Алещик И. Ч., Хоров О. Г., Ракова С. Н. Отосклероз у детей // Материалы республиканской с международным участием научно-практической конференции, посвященной 60-летию Гродненского государственного медицинского университета. 2018; 38-41 стр.
  2. Байбакова Е. В. и др. Отосклероз. Клинические рекомендации. Национальная медицинская ассоциация оториноларингологов. – 2016.
  3. Бойко Н. В., Колесников В. Н., Анохина Е. А. Дифференциальная диагностика отосклероза // РМЖ. 2017;25(6):404-408.
  4. Еловиков А. М., Подлужная М. Я. Медико-демографическая характеристика больных отосклерозом в Пермском крае // Российская оториноларингология. – 2010;3:73-78.
  5. Свистушкин В. М., Синьков Э. В., Стожкова И. В. Этиопатогенетические аспекты отосклероза // Российская оториноларингология. 2021;20/5(114):68-74.
  6. Юсупов А.Д., Орлова Ю.Ю., Сергеев А.В. Отосклероз // Методы профилактики и лечения заболеваний ЛОР-органов. 2022; 238-243 стр.
  7. Chen H. J. et al. Role of gene polymorphisms/haplotypes and plasma level of TGF-β1 in susceptibility to in-stent restenosis following coronary implantation of bare metal stent in Chinese Han patients // International Heart Journal. 2018;59(1):161-169.
  8. Janssens K. et al. Transforming growth factor-β1 to the bone // Endocrine reviews. – 2005;26(6):743-774.
  9. Mowat A.J. et al. Evidence of distinct RELN and TGFB1 genetic associations in familial and non-familial otosclerosis in a British population // Human Genetics. – 2018;137(5):357-363.
  10. Priyadarshi S. et al. The risks of RELN polymorphisms and its expression in the development of otosclerosis // Plos one. 2022;17(6):e0269558.

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