Etiology of Adolescent Idiopathic Scoliosis: A Literature Review

Sina Rashidi Kikanloo, Sandip Parshottam Tarpada, Woojin Cho, Sina Rashidi Kikanloo, Sandip Parshottam Tarpada, Woojin Cho

Abstract

Adolescent idiopathic scoliosis (AIS) is the peripubertal development of spinal curvature of a minimum of 10°. AIS is thought to be attributable to genetic factors, nutrition, early exposure to toxins, and hormonal dysregulation. Recent literature suggests these factors may compound to determine both disease onset and severity. Currently, treatment is limited to observation, bracing, and surgical intervention. Intervention is presently determined by severity and risk of curve progression. As they emerge, new therapies may target specific etiologies of AIS.

Keywords: Adolescent; Adolescent idiopathic scoliosis; Cobb angle; Etiology; Review; Scoliosis.

Conflict of interest statement

No potential conflict of interest relevant to this article was reported.

References

    1. Weinstein SL, Dolan LA, Wright JG, Dobbs MB. Effects of bracing in adolescents with idiopathic scoliosis. N Engl J Med. 2013;369:1512–21.
    1. Andersen MR, Farooq M, Koefoed K, et al. Mutation of the planar cell polarity gene VANGL1 in adolescent idiopathic scoliosis. Spine. 2017;42:E702–7.
    1. Zhang Y, Gu Z, Qiu G. The association study of calmodulin 1 gene polymorphisms with susceptibility to adolescent idiopathic scoliosis. Biomed Res Int. 2014;2014:168106.
    1. Wu JZ, Wu WH, He LJ, et al. Effect of melatonin and calmodulin in an idiopathic scoliosis model. Biomed Res Int. 2016;2016:8460291.
    1. Zhao D, Qiu GX, Wang YP, Zhang JG, Shen JX, Wu ZH. Association between adolescent idiopathic scoliosis with double curve and polymorphisms of calmodulin1 gene/estrogen receptor-α gene. Orthop Surg. 2009;1:222–30.
    1. Buchan JG, Alvarado DM, Haller GE, et al. Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis. Hum Mol Genet. 2014;23:5271–82.
    1. Crijns TJ, Stadhouder A, Smit TH. Restrained differential growth: the initiating event of adolescent idiopathic scoliosis? Spine (Phila Pa 1976) 2017;42:E726–32.
    1. Haller G, Alvarado D, Mccall K, et al. A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis. Hum Mol Genet. 2016;25:202–9.
    1. Grauers A, Wang J, Einarsdottir E, et ak. Candidate gene analysis and exome sequencing confirm LBX1 as a susceptibility gene for idiopathic scoliosis. Spine J. 2015;15:2239–46.
    1. Zhu Z, Xu L, Leung-Sang Tang N, et al. Genomewide association study identifies novel susceptible loci and highlights Wnt/beta-catenin pathway in the development of adolescent idiopathic scoliosis. Hum Mol Genet. 2017;26:1577–83.
    1. Guo L, Yamashita H, Kou I, et al. Functional investigation of a non-coding variant associated with adolescent idiopathic scoliosis in zebrafish: elevated expression of the ladybird homeobox gene causes body axis deformation. PLoS Genet. 2016;12:e1005802.
    1. Xu JF, Yang GH, Pan XH, et al. Association of GPR126 gene polymorphism with adolescent idiopathic scoliosis in Chinese populations. Genomics. 2015;105:101–7.
    1. Li W, Li Y, Zhang L, et al. AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis. J Med Genet. 2016;53:488–93.
    1. Xu L, Huang S, Qin X, et al. Investigation of the 53 markers in a DNA-based prognostic test revealing new predisposition genes for adolescent idiopathic scoliosis. Spine 20. 1515;40:1086–91.
    1. Ryzhkov II, Borzilov EE, Churnosov MI, Ataman AV, Dedkov AA, Polonikov AV. Transforming growth factor beta 1 is a novel susceptibility gene for adolescent idiopathic scoliosis. Spine. 2013;38:E699–704.
    1. Xu L, Sun W, Qin X, Qiu Y, Zhu Z. The TGFB1 gene is associated with curve severity but not with the development of adolescent idiopathic scoliosis: a replication study in the Chinese population. BMC Musculoskelet Disord. 2016;17:15.
    1. Wang W, Ma J, Li SY, et al. Advance on genetic mechanism of adolescent idiopathic scoliosis and genetic relationship map. Zhongguo Gu Shang. 2015;28:854–60.
    1. Roye BD, Wright ML, Williams BA, et al. Does ScoliScore provide more information than traditional clinical estimates of curve progression? Spine. 2012;37:2099–103.
    1. Roye BD, Wright ML, Matsumoto H, et al. An independent evaluation of the validity of a DNA-based prognostic test for adolescent idiopathic scoliosis. J Bone Joint Surg Am. 2015;97:1994–8.
    1. Bohl DD, Telles CJ, Ruiz FK, Badrinath R, DeLuca PA, Grauer JN. A genetic test predicts providence brace success for adolescent idiopathic scoliosis when failure is defined a progression to >45 degrees. Clin Spine Surg. 2016;29:E146–50.
    1. Tang QL, Julien C, Eveleigh R, et al. A replication study for association of 53 single nucleotide polymorphisms in ScoliScore test with adolescent idiopathic scoliosis in French-Canadian population. Spine. 2015;40:537–43.
    1. Ogura Y, Kou I, Japan Scoliosis Clinical Research Group et al. Genome-wide association study for adolescent idiopathic scoliosis. Clin Calcium. 2016;26:553–60.
    1. Simony A, Carreon LY, Hjmark K, Kyvik KO, Andersen MO. Concordance rates of adolescent idiopathic scoliosis in a Danish twin population. Spine. 2016;41:1503–7.
    1. Kulis A, Gozdzialska A, Drag J, et al. Participation of sex hormones in multifactorial pathogenesis of adolescent idiopathic scoliosis. Int Orthop. 2015;39:1227–36.
    1. Zhou C, Wang H, Zou Y, Fang H. Research progress of role of estrogen and estrogen receptor on onset and progression of adolescent idiopathic scoliosis. Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi. 2015;29:1441–5.
    1. Goultidis TT, Papavasiliou KA, Petropoulos AS, Philippopoulos A, Kapetanos GA. Higher levels of melatonin in early stages of adolescent idiopathic scoliosis: toward a new scenario. J Pediatr Orthop. 2014;34:768–73.
    1. Zamecnik J, Krskova L, Hacek J, Stetkarova I, Krbec M. Etiopathogenesis of adolescent idiopathic scoliosis: expression of melatonin receptors 1A/1B, calmodulin and estrogen receptor 2 in deep paravertebral muscles revisited. Mol Med Rep. 2016;14:5719–24.
    1. Yang P, Liu H, Lin J, Yang H. The association of rs4753426 polymorphism in the melatonin receptor 1B (MTNR1B) gene and susceptibility to adolescent idiopathic scoliosis: a systematic review and metaanalysis. Pain Physician. 2015;18:419–31.
    1. Yang M, Wei X, Yang W, et al. The polymorphisms of melatonin receptor 1B gene (MTNR1B) (rs4753426 and rs10830963) and susceptibility to adolescent idiopathic scoliosis: a meta-analysis. J Orthop Sci. 2015;20:593–600.
    1. Chen C, Xu C, Zhou T, et al. Abnormal osteogenic and chondrogenic differentiation of human mesenchymal stem cells from patients with adolescent idiopathic scoliosis in response to melatonin. Mol Med Rep. 2016;14:1201–9.
    1. Man GC, Wong JH, Wang WW, et al. Abnormal melatonin receptor 1B expression in osteoblasts from girls with adolescent idiopathic scoliosis. J Pineal Res. 2011;50:395–402.
    1. Man GC, Wang WW, Yim AP, et al. A review of pinealectomy-induced melatonin-deficient animal models for the study of etiopathogenesis of adolescent idiopathic scoliosis. Int J Mol Sci. 2014;15:16484–99.
    1. Burwell RG. Aetiology of idiopathic scoliosis: current concepts. Pediatr Rehabil. 2003;6:137–70.
    1. Burwell RG, Dangerfield PH, Moulton A, Grivas TB. Adolescent idiopathic scoliosis (AIS), environment, exposome and epigenetics: a molecular perspective of postnatal normal spinal growth and the etiopathogenesis of AIS with consideration of a network approach and possible implications for medical therapy. Scoliosis. 2011;6:26.
    1. Ramirez M, Martinez-Llorens J, Sanchez JF, et al. Body composition in adolescent idiopathic scoliosis. Eur Spine J. 2013;22:324–9.
    1. McMaster ME, Lee AJ, Burwell RG. Indoor heated swimming pools: the vulnerability of some infants to develop spinal asymmetries years later. Stud Health Technol Inform. 2006;123:151–5.
    1. Sperandio EF, Alexandre AS, Yi LC, et al. Functional aerobic exercise capacity limitation in adolescent idiopathic scoliosis. Spine J. 2014;14:2366–72.
    1. Burwell RG, Aujla RK, Grevitt MP, et al. Pathogenesis of adolescent idiopathic scoliosis in girls: a double neuro-osseous theory involving disharmony between two nervous systems, somatic and autonomic expressed in the spine and trunk: possible dependency on sympathetic nervous system and hormones with implications for medical therapy. Scoliosis. 2009;4:24.
    1. Wang WJ, Sun C, Liu Z, et al. Transcription factor Runx2 in the low bone mineral density of girls with adolescent idiopathic scoliosis. Orthop Surg. 2014;6:8–14.
    1. Wang S, Qiu Y, Ma Z, Xia C, Zhu F, Zhu Z. Expression of Runx2 and type X collagen in vertebral growth plate of patients with adolescent idiopathic scoliosis. Connect Tissue Res. 2010;51:188–96.
    1. Sun X, Wu T, Liu Z, et al. Osteopenia predicts curve progression of adolescent idiopathic scoliosis in girls treated with brace treatment. J Pediatr Orthop. 2013;33:366–71.
    1. Chiru M. Adolescent idiopathic scoliosis and osteopenia. Maedica (Buchar) 2011;6:17–22.
    1. Normand E, Franco A, Moreau A, Marcil V. Dipeptidyl peptidase-4 and adolescent idiopathic scoliosis: expression in osteoblasts. Sci Rep. 2017;7:3173.
    1. Luciano RP, Wajchenberg M, Almeida SS, et al. Genetic ACE I/D and ACTN3 R577X polymorphisms and adolescent idiopathic scoliosis. Genet Mol Res. 2016;15
    1. Jiang J, Meng Y, Jin X, et al. Volumetric and fatty infiltration imbalance of deep paravertebral muscles in adolescent idiopathic scoliosis. Med Sci Monit. 2017;23:2089–95.
    1. Acaroglu E, Bobe R, Enouf J, Marcucio R, Moldovan F, Moreau A. The metabolic basis of adolescent idiopathic scoliosis: 2011 report of the “metabolic” workgroup of the Fondation Yves Cotrel. Eur Spine J. 2012;21:1033–42.

Source: PubMed

Подписаться