Single Nucleotide Polymorphisms and Adolescent Idiopathic Scoliosis

Abstract

Study Design. Meta-analysis. Objective. To determine the single nucleotide polymorphisms (SNPs) that are related to adult idiopathic scoliosis. Summary and Background Data. Adolescent idiopathic scoliosis (AIS) is considered one of the most prevalent spinal diseases. Even though the cause of AIS is yet to be determined, family history and sex have shown conclusive associations. Multiple studies have indicated that AIS is more prevalent in families where at least one other first-degree relative is similarly affected, indicating a possible genetic etiology to AIS. Materials and Methods. Articles were collected from 3 different search engines and then processed in 2 stages for final article selection for quantitative analysis. Five different genetic models were represented to show the association between the different SNPs and AIS. The Hardy-Weinberg equilibrium was examined using Fisher exact test, with significance set at P <0.05. The final analysis paper’s quality was evaluated using the Newcastle Ottawa Scale. Kappa interrater agreement was calculated to evaluate the agreement between authors. Results. The final analysis comprised 43 publications, 19412 cases, 22005 controls, and 25 distinct genes. LBX1 rs11190870 T>C and MATN-1 SNPs were associated with an increased risk of AIS in one or all of the 5 genetic models. IGF-1, estrogen receptor alfa, and MTNR1B, SNPs were not associated with AIS in all 5 genetic models. Newcastle Ottawa Scale showed good quality for the selected articles. Cohen k = 0.741 and Kappa interrater agreement of 84% showed that the writers were in strong agreement. Conclusions. There seem to be associations between AIS and genetic SNP. Further larger studies should be conducted to validate the results.

The Whole-Exome Sequencing of a Cohort of 19 Families with Adolescent Idiopathic Scoliosis (AIS): Candidate Pathways

“…The 18% concordance with genes already reported in the literature is encouraging given the heterogeneity of the cohorts in terms of geographical origin (mostly North America and China) and selection criteria (familial studies and GWAS, with or without functional validation). However, several of the most significant genes with variants found in AIS, such as MATN1 and LBX1, were not observed in this cohort [30]. This rate of replication is an echo of the replication studies conducted in Chinese and Canadian cohorts of the ScoliScore designed in an American population, for which only 0-2 of the 53 SNP have significantly replicated in other cohorts [31][32][33].…”