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. 2024 Sep 6:20:100556.
doi: 10.1016/j.xnsj.2024.100556. eCollection 2024 Dec.

Genetics and pathogenesis of scoliosis

Edgar Petrosyan  1 , Jawad Fares  1 , Christopher S Ahuja  1 , Maciej S Lesniak  1 , Tyler R Koski  1 , Nader S Dahdaleh  1 , Najib E El Tecle  1
Affiliations

Genetics and pathogenesis of scoliosis

Edgar Petrosyan et al. N Am Spine Soc J. .

Abstract

Background: Scoliosis is defined as a lateral spine curvature of at least 10° with vertebral rotation, as seen on a posterior-anterior radiograph, often accompanied by reduced thoracic kyphosis. Scoliosis affects all age groups: idiopathic scoliosis is the most common spinal disorder in children and adolescents, while adult degenerative scoliosis typically affects individuals over fifty. In the United States, approximately 3 million new cases of scoliosis are diagnosed annually, with a predicted increase in part due to global aging. Despite its prevalence, the etiopathogenesis of scoliosis remains unclear.

Methods: This comprehensive review analyzes the literature on the etiopathogenetic evidence for both idiopathic and adult degenerative scoliosis. PubMed and Google Scholar databases were searched for studies on the genetic factors and etiopathogenetic mechanisms of scoliosis development and progression, with the search limited to articles in English.

Results: For idiopathic scoliosis, genetic factors are categorized into three groups: genes associated with susceptibility, disease progression, and both. We identify gene groups related to different biological processes and explore multifaceted pathogenesis of idiopathic scoliosis, including evolutionary adaptations to bipedalism and developmental and homeostatic spinal aberrations. For adult degenerative scoliosis, we segregate genetic and pathogenic evidence into categories of angiogenesis and inflammation, extracellular matrix degradation, neural associations, and hormonal influences. Finally, we compare findings in idiopathic scoliosis and adult degenerative scoliosis, discuss current limitations in scoliosis research, propose a new model for scoliosis etiopathogenesis, and highlight promising areas for future studies.

Conclusions: Scoliosis is a complex, multifaceted disease with largely enigmatic origins and mechanisms of progression, keeping it under continuous scientific scrutiny.

Keywords: Adolescent idiopathic scoliosis; Adult degenerative scoliosis; Aging; Degenerative spine disorder; Low back pain; Spinal deformity.

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Conflict of interest statement

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Figures

Fig 1
Fig. 1
Genetics of idiopathic scoliosis.
Fig 2
Fig. 2
Pathogenesis of idiopathic scoliosis.
Fig 3
Fig. 3
Vicious cycle of adult degenerative scoliosis.
Fig 4
Fig. 4
Genes associated with adult degenerative scoliosis.
Fig 5
Fig. 5
The etiopathogenetic tree of scoliosis.
See this image and copyright information in PMC

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