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Vol. 25, Art. 40 (pp. 767-808)    |    2024       

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Genetic factors in scoliosis progression: A literature review

Vissarionov S.V.1, Khalchitsky S.E.1, Pershina P.A.1, Asadulaev M.S.1, Buslov K.G.1, Batotsyrenova E.G.2, Golinets E.M.2, Srago I.A.2, Komov Yu.V.2, Kretser T.Yu.2, Krasnikova E.N.2, Kashuro V.A.2,3,4

1H.Turner National Medical Research Center for Children's Orthopedics and Trauma Surgery, St. Petersburg, Russia
2St. Petersburg State Pediatric Medical University, St. Petersburg, Russia
3Herzen State Pedagogical University of Russia, St. Petersburg, Russia
4Saint Petersburg State University, St. Petersburg, Russia

Brief summary

Scoliosis is a multifactorial disease manifested in the population in the form of congenital or idiopathic scoliosis. Despite the differences in etiology, according to numerous studies, both types of spinal deformities have a genetic determinant that determines not only the etiological causes, but also the factors of progression. Understanding the genetic prerequisites for scoliosis progression is necessary to improve diagnostics, early assessment of the disease prognosis, and individualization of therapeutic and surgical treatment strategies. Objective. The aim of this literature review is to analyze current publications devoted to genetic factors contributing to the progression of spinal deformity in patients with congenital and idiopathic scoliosis. Materials and Methods. A systematic literature search was conducted using Pubmed, Google Scholar, Cochrane library, Web of Science, Lens.org, and elibrary databases for the period from 2000 to 2024. Inclusion criteria were: availability of full-text source, studies with at least 20 probands, published results of the study. Exclusion criteria were: lack of open access to full-text source, studies without presented results, conference abstracts, preliminary reports. Results. In preparing the literature review, 147 sources were selected that matched the keywords and the purpose of the publication. Further, 55 sources that met the inclusion criteria were selected and analyzed in detail in the text of this publication. Conclusion. Publication activity in the direction of searching for genetic determinants of deformity progression in congenital and idiopathic scoliosis has increased significantly over the last decades and nowadays seems to be a widely covered topic. However, in the direction of studying the progression, or dysplastic course of congenital scoliosis, publications have been extremely underrepresented in comparison with the study of these aspects in idiopathic scoliosis groups. Based on this analysis, it can be concluded that congenital and idiopathic scoliosis share common genetic markers such as the 16p11.2 locus, PTK7 and CHD7 genes, but have more unique genetic alterations that influence their progression. Integration of genetic testing into clinical practice can significantly improve early diagnosis and individualization of treatment.


Key words

congenital scoliosis, idiopathic scoliosis, genetics, GWAS, DISCO, progression, secondary curves.

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