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

Abstract

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.

Sex differences in musculoskeletal injury and disease risks across the lifespan: Are there unique subsets of females at higher risk than males for these conditions at distinct stages of the life cycle?

“…In addition, it is not known whether in detail whether the muscle involvement is primary or secondary regarding causality. To address some of the gaps, a number of studies and reviews have explored and analyzed the possibility that there are genetic or epigenetic-related variables at play in disease initiation and progression ( Gorman et al, 2012 ; Zaydman et al, 2021 ; De Salvatore et al, 2022 ; Faldini et al, 2022 ). A number of studies have implicated a variety of genes and gene families in AIS including Fibrillin-1 ( Sheng et al, 2019 ; De Azevedo et al, 2022 ), Fibrillin-1 and Fibrillin-2 variants associated with severe disease ( Buchan et al, 2014 ), estrogen receptor variants and polymorphisms ( Esposito et al, 2009 ; Wang et al, 2020 ), the NUCKS1 gene in Chinese adolescents ( Xu et al, 2017 ), and the helicase DNA-binding protein 7 (CHD7) ( Wu et al, 2021 ; Wu et al, 2022 ).…”

Respiratory and Musculoskeletal Long-Term Outcomes after Surgical Resection of Congenital Cystic Adenomatoid Malformation of the Lung in Newborns, Infants, and Toddlers

“…32 Thoracoscopic approach seems to reduce the risk of thoracic and spinal deformities in children. However, these results should also take into account the overall incidence of idiopathic musculoskeletal abnormalities in the healthy population, reported in 2-3% of children 33 Pectus excavatum, which constitutes the most frequent congenital thoracic wall anomaly, affects around 1:400 live births. 34 Given the growing experience supporting the role of thoracoscopy in this regard, we have started the transition to minimally invasive thoracoscopic lobectomy in recent years, even for newborns and infants.…”

Factors that influence in-brace derotation effects in patients with adolescent idiopathic scoliosis: a study based on EOS imaging system

“…Adolescent idiopathic scoliosis (AIS) is a complex three-dimensional spinal deformity which occurs in adolescence with unknown etiology [ 1 ]. The overall incidence of AIS can reach 2–3% in adolescents, while the incidence in females is 1.5–3 times higher than that in males [ 2 , 3 ]. About two-thirds of patients will experience continued progression of spinal deformity during rapid growth period, which not only affects appearance perception and causes psychological disorders, but may also leads to spinal degeneration and even cardiopulmonary dysfunction [ 3 ].…”