The Genetic Associations in Scoliosis; A Systematic Review of The Literature

Introduction:
Idiopathic Scoliosis (IS) is the most common spinal deformity in adolescents, accounting for 80% of all spinal deformities. However, the etiology remains uncertain, and most cases are being identified as Adolescent Idiopathic Scoliosis (AIS).

Aims/

Objective:
The objective of this article is to systematically review the currently available literature on the genetic associations of scoliosis to enhance clinical practice and establish recommendations for future research.

Methods:
Using the PRISMA guidelines for systematic reviews, articles from PubMed, Google Scholar, Medline, Embase, Scopus, and Web of Science, that presented any data on genetic associations with scoliosis were included for data extraction and analysis. The search was restricted to articles from 1994 to 2022 written in all languages. Reports on review articles, expert opinions, abstracts from scientific meetings, and case reports on 5 or fewer patients were excluded. The data that were extracted from the relevant articles included: Specific Genes, Chromosomes, Pathways, SNPs, RNAs, and Epigenetic Factors shown to have statistically significant association with scoliosis. Most studies had different inclusion criteria and outcome measures, thus prohibiting a proper meta-analysis. Therefore, only the idiopathic scoliosis papers were compared.

Results:
Methodological quality was assessed by assigning levels of evidence as previously defined by the Centre for Evidence-Based Medicine. See Table 1 for associations. This systematic review provides strong evidence in favor of genetic associations in Scoliosis.

Conclusion:
AIS is caused by many different gene mutations, environmental influences, and a synergy of different mechanisms, interactions, and factors. While there exists a plethora of literature regarding genetic associations in AIS, it is still not enough to clearly explain the etiopathogenesis of AIS to help develop targeted genetic treatments.