Update This article was updated on December 31, 2020, because of a previous error. On page 1460, in the “Results” section of the Abstract, the sentence that had read “The surgical treatment group had significantly better pain, activity, and self-image domain scores at 5 years postoperatively compared with the untreated AIS group (all p ≤ 0.014), and similar pain, self-image, and activity domain scores compared with the healthy control group; function scores were significantly lower in the healthy control group compared with the surgical treatment group (p < 0.001).” now reads “The surgical treatment group had significantly better pain, activity, and self-image domain scores at 5 years postoperatively compared with the untreated AIS group (all p ≤ 0.014), and similar pain, self-image, and activity domain scores compared with the healthy control group; however, function scores were significantly lower among patients in the surgical treatment group (p < 0.001).” An erratum has been published: J Bone Joint Surg Am. 2021 Feb 3;103(3):e13. Background: Posterior spinal fusion with pedicle screws is the gold-standard treatment for adolescent idiopathic scoliosis (AIS); however, it is unclear whether this procedure results in improved long-term back pain and health-related quality of life compared with patients not surgically treated for AIS. The aim of the present study was to evaluate back pain and quality of life in surgically managed patients with a minimum follow-up of 5 years compared with patients with untreated AIS and a healthy control group. Methods: Fifty-five consecutive adolescent patients who underwent posterior pedicle screw instrumentation for AIS by a single orthopaedic surgeon were prospectively enrolled. At a minimum of 5 years postoperatively, 49 patients completed Scoliosis Research Society (SRS)-24 questionnaires, and data on reoperation were collected. Pain and quality-of-life parameters were compared with those of 49 age and sex-matched patients with untreated AIS and 49 healthy controls. Results: The major curve averaged 53° preoperatively and 12° at 2 years postoperatively. One reoperation (pedicle screw removal) was needed because of a new neurological deficit (transient). The SRS-24 pain, function, and total scores improved significantly from preoperatively to 5 years postoperatively (all p ≤ 0.016), with pain scores improving from 4.0 to 4.3 (p = 0.003). There was no association between pain scores and the preoperative major curve, instrumentation below L1, or postoperative rib hump. The surgical treatment group had significantly better pain, activity, and self-image domain scores at 5 years postoperatively compared with the untreated AIS group (all p ≤ 0.014), and similar pain, self-image, and activity domain scores compared with the healthy control group; however, function scores were significantly lower among patients in the surgical treatment group (p < 0.001). Conclusions: Patients who underwent posterior spinal fusion with pedicle screws experienced improved back pain and health-related quality of life compared with patients with untreated AIS. Patients in the surgical treatment group had similar health-related quality of life to that of the healthy control group, except for function, which was significantly lower. Level of Evidence: Therapeutic Level III. See Instructions for Authors for a complete description of levels of evidence.

Purpose To estimate the heritability of scoliosis in the Swedish Twin Registry. Methods Self-reported data on scoliosis from 64,578 twins in the Swedish Twin Registry were analysed. Prevalence, pair-and probandwise concordances and tetrachoric correlations in mono-and dizygotic same-sex twins were calculated. The relative importance of genetic variance, i.e. the heritability, and unique and shared environmental variance was estimated using structural equation modelling in Mx software. In addition, all twins in the twin registry were matched against the Swedish Inpatient Register on the primary diagnosis idiopathic scoliosis. Results The prevalence of scoliosis was 4%. Pair-and probandwise concordance was 0.11/0.17 for mono-and 0.04/0.08 for same-sex dizygotic twins. The tetrachoric correlation (95% CI) was 0.41 (0.33-0.49) in mono-and 0.18 (0.09-0.29) in dizygotic twins. The most favourable model in the Mx analyses estimated the additive genetic effects (95% CI) to 0.38 (0.18-0.46) and the unique environmental effects to 0.62 (0.54-0.70). Shared environmental effects were not significant. The pairwise/ probandwise concordance for idiopathic scoliosis in the Swedish Inpatient Register was 0.08/0.15 for monozygotic and zero/zero for same-sex dizygotic twins. Conclusion Using self-reported data on scoliosis from the Swedish Twin Registry, we estimate that 38% of the variance in the liability to develop scoliosis is due to additive genetic effects and 62% to unique environmental effects. This is the first study of sufficient size to make heritability estimates of scoliosis.

Adolescent idiopathic scoliosis (AIS) is the most common musculoskeletal disorder of childhood development. The genetic architecture of AIS is complex, and the great majority of risk factors are undiscovered. To identify new AIS susceptibility loci, we conducted the first genome-wide meta-analysis of AIS genome-wide association studies, including 7956 cases and 88 459 controls from 3 ancestral groups. Three novel loci that surpassed genome-wide significance were uncovered in intragenic regions of the CDH13 (P-value rs4513093 = 1.7E-15), ABO (P-value rs687621 = 7.3E-10) and SOX6 (P-value rs1455114 = 2.98E-08) genes. Restricting the analysis to females improved the associations at multiple loci, most notably with variants within CDH13 despite the reduction in sample size. Genome-wide gene-functional enrichment analysis identified significant perturbation of pathways involving cartilage and connective tissue development. Expression of both SOX6 and CDH13 was detected in cartilage chondrocytes and chromatin immunoprecipitation sequencing experiments in that tissue revealed multiple HeK27ac-positive peaks overlapping associated loci. Our results further define the genetic architecture of AIS and highlight the importance of vertebral cartilage development in its pathogenesis.

Idiopathic scoliosis (IS), the most common spinal deformity, affects otherwise healthy children and adolescents during growth. The aetiology is still unknown, although genetic factors are believed to be important. The present review corroborates the understanding of IS as a complex disease with a polygenic background. Presumably IS can be due to a spectrum of genetic risk variants, ranging from very rare or even private to very common. The most promising candidate genes are highlighted.

Here, we confirm LBX1 as a susceptibility gene for idiopathic scoliosis in a Scandinavian population and report that we are unable to find evidence of other genes of similar or stronger effect.

The adolescent age group was more satisfied with the treatment than the adult groups. There was a significant improvement in all age groups after surgery.

Therapeutic Level III. See Instructions for Authors for a complete description of levels of evidence.

Adolescent idiopathic scoliosis (AIS) is the most common type of spinal deformity and has a significant genetic background. Genome-wide association studies (GWASs) identified several susceptibility loci associated with AIS. Among them is a locus on chromosome 6q24.1 that we identified by a GWAS in a Japanese cohort. The locus is represented by rs6570507 located within GPR126. To ensure the association of rs6570507 with AIS, we conducted a meta-analysis using eight cohorts from East Asia, Northern Europe and USA. The analysis included a total of 6,873 cases and 38,916 controls and yielded significant association (combined P = 2.95 × 10−20; odds ratio = 1.22), providing convincing evidence of the worldwide association between rs6570507 and AIS susceptibility. In silico analyses strongly suggested that GPR126 is a susceptibility gene at this locus.