Epigenetic and Genetic Factors Related to Curve Progression in Adolescent Idiopathic Scoliosis: A Systematic Scoping Review of the Current Literature

Adolescent idiopathic scoliosis (AIS) is a progressive deformity of the spine. Scoliotic curves progress until skeletal maturity leading, in rare cases, to a severe deformity. While the Cobb angle is a straightforward tool in initial curve magnitude measurement, assessing the risk of curve progressi...

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Bibliographic Details
Published in:International journal of molecular sciences 2022-05, Vol.23 (11), p.5914
Main Authors: Faldini, Cesare, Manzetti, Marco, Neri, Simona, Barile, Francesca, Viroli, Giovanni, Geraci, Giuseppe, Ursini, Francesco, Ruffilli, Alberto
Format: Article
Language:English
Subjects:
Adolescent
Cartilage
Clinical medicine
Disease management
Disease Progression
Epigenesis, Genetic
Epigenetics
Genetic factors
Genetic markers
Genomes
Humans
Literature reviews
Markers
Patients
Polymorphism
Radiography
Review
Scoliosis
Scoliosis - diagnosis
Scoliosis - genetics
Single-nucleotide polymorphism
Spine
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Summary:Adolescent idiopathic scoliosis (AIS) is a progressive deformity of the spine. Scoliotic curves progress until skeletal maturity leading, in rare cases, to a severe deformity. While the Cobb angle is a straightforward tool in initial curve magnitude measurement, assessing the risk of curve progression at the time of diagnosis may be more challenging. Epigenetic and genetic markers are potential prognostic tools to predict curve progression. The aim of this study is to review the available literature regarding the epigenetic and genetic factors associated with the risk of AIS curve progression. This review was carried out in accordance with Preferential Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines. The search was carried out in January 2022. Only peer-reviewed articles were considered for inclusion. Forty studies were included; fifteen genes were reported as having SNPs with significant association with progressive AIS, but none showed sufficient power to sustain clinical applications. In contrast, nine studies reporting epigenetic modifications showed promising results in terms of reliable markers. Prognostic testing for AIS has the potential to significantly modify disease management. Most recent evidence suggests epigenetics as a more promising field for the identification of factors associated with AIS progression, offering a rationale for further investigation in this field.
ISSN:1422-0067
1661-6596
1422-0067
DOI:10.3390/ijms23115914