Role of the IL-6 Gene in the Etiopathogenesis of Idiopathic Scoliosis

Nikolova, Svetla; Dikova, Milka; Dikov, Dobrin; Djerov, Assen; Dzhebir, Gyulnas; Atanasov, Ventseslav; Savov, Alexey; Kremensky, Ivo

doi:10.1155/2015/621893

Cited by 11 publications

(9 citation statements)

References 10 publications

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“…Of potential significance, therefore, is a recent publication reporting a significant association between a functional polymorphism in IL-6 with susceptibility to idiopathic scoliosis and to curve severity [43]. Furthermore, there may be much to learn from studies that have examined the molecular basis for intervertebral disc degeneration in nonidiopathic scoliosis patient samples, where aberrant proliferation of cells in the nucleus pulposus is also implicated in the pathogenesis.…”

Section: Intervertebral Disc and Growth Platementioning

confidence: 99%

Adolescent idiopathic scoliosis: evidence for intrinsic factors driving aetiology and progression

Ede

Jones

2016

International Orthopaedics (SICOT)

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Adolescent idiopathic scoliosis (AIS) is now considered to be a multifactorial heterogeneous disease, with recent genomic studies supporting the role of intrinsic factors in contributing to the onset of disease pathology and curve progression. Understanding the key molecular signalling pathways by which these intrinsic factors mediate AIS pathology may facilitate the development of pharmacological therapeutics and the identification of predictive markers of progression. The heterogenic nature of AIS has implicated multiple tissue types in the disease pathophysiology, including spinal bone, intervertebral disc and paraspinal muscles. In this review, we highlight some of the mechanisms and intrinsic molecular regulators within these different tissue types and review the evidence for their involvement in AIS pathology.

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Section: Intervertebral Disc and Growth Platementioning

confidence: 99%

Adolescent idiopathic scoliosis: evidence for intrinsic factors driving aetiology and progression

Ede

Jones

2016

International Orthopaedics (SICOT)

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“…Interleukin-6 (IL-6) is a proinflammatory cytokine ,necessary for the complex cascade that leads to the degeneration of the intervertebral discs. The homozygous GG genotype of IL-6 gene was linked to a higher prevalence of scoliosis in a recent study with Bulgarian patients and the presence of the G allele could be considered as susceptibility factor to IS 12 . The estrogen receptor alpha gene (ESR1) has been tested as a gene connected with IS.…”

Section: Genetic Factorsmentioning

confidence: 97%

Etiopathogenesis of idiopathic scoliosis

Papadoudis¹,

Skourti²

2019

JRPMS

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Scoliosis is a three dimensional deformity of the spine characterized by rotation of the vertebrae in the transverse plane and curvatures in the frontal and sagittal plane 1. The key radiographical tool for diagnosis is Cobb angle, which is the angle created by lines crossing over the upper limit of the first vertebra in the curve and the lower limit of the lowest and final vertebra in the anterior-posterior radiography. Although this cannot entirely describe all spinal abnormalities , it is easy to calculate and to assess and has become the gold standard for scoliotic diagnosis 2. Deformity is the main clinical sign during the examination, not followed by the presence of pain. The spine may be obviously deviated from the midline ,or this may become apparent only when the patient bends forward (the Adams test) 3. The major curvature may be located at the thoracic, thoracolumbar or lumbar part of the vertebral column and the convexity may point to the left or right side, with compensatory and smaller curvatures above and below. The most common pattern is a thoracic curvature with right convexity with a compensatory left convexity at the lumbar vertebrae 4. Scoliosis is divided, in terms of etiology, into idiopathic (no known cause or disease), congenital (present at birth due to congenital etiological factors), and secondary(where it is caused by another disease) 2. Idiopathic scoliosis consists, moreover, of three sub-categories, according to the age of diagnosis, as infantile (between 0-3 years old), juvenile (between 4-9 years old) and adolescent (age 10 up to maturity) 5. Adolescent idiopathic scoliosis (AIS) has a prevalence rate between 1-3% and is more common in girls during puberty. The number of girls with AIS is two times higher than the number of boys with this disease and the prevalence is eight times higher among girls than boys when the deformation consists of curvatures greater than 30 degrees 6. Research into the etiopathogenesis of idiopathic scoliosis (IS) has spread through the years to multiple areas and a great number of suggestions has been made during the last decades concerning hormones, genetic , metabolic and biomechanical factors. Although a lot of theories have been proposed, none is capable to fully describe the pathophysiology of the disease, underlying the complexity and the multifactorial etiology of the condition. The purpose of this review is to summarize the main concepts of etiology Abstract Scoliosis is a three-dimensional deformity of the spine. The key radiographical tool for diagnosis is the Cobb angle and the most common form is a right thoracic convexity with a compensatory left lumbar convexity. Scoliosis is divided, in terms of etiology, into idiopathic, congenital, and secondary. Research into the etiology of idiopathic scoliosis has focused on multiple areas and a great number of suggestions has been made during the last decades concerning hormones, genetic, metabolic and biomechanical factors. Although a lot of theories have been proposed, none is capable to fully des...

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“…1. Following the deletion of duplicate and irrelevant articles, a total of 10 case-control studies 14,[16][17][18][19][20][21][22][23] including 1,695 AIS cases and 2,097 controls were selected for the meta-analysis. The characteristics of the eligible studies are presented in ►Table 2.…”

Section: Eligible Studiesmentioning

confidence: 99%

“…The characteristics of the eligible studies are presented in ►Table 2. Of the 10 case-control studies, 6 16,17,[21][22][23] were conducted among Asian popula-tions (1,331 AIS cases and 1,324 controls) and 4 14,[18][19][20] were performed with Caucasian populations (364 AIS cases and 773 controls). In total, three genotyping techniques were used in the included studies: PCR-RFLP, TaqMan and direct sequencing (DS).…”

Section: Eligible Studiesmentioning

confidence: 99%

Associação do polimorfismo IL-6 -174G > C (rs1800795) com escoliose idiopática da adolescência: Evidências de um estudo de caso-controle e metanálise

et al. 2019

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ResumoEstudos epidemiológicos recentes identificaram que o polimorfismo -174G > C (rs1800795) na região promotora do gene interleucina-6 (IL-6) está associado ao risco de desenvolver escoliose idiopática da adolescência (EIA), mas apresentaram resultados inconsistentes e controversos. Assim, realizamos um estudo de caso-controle e metanálise para obter uma estimativa mais precisa da relação entre o polimorfismo IL-6 -174G > C e o risco de desenvolver EIA. Um total de 80 pacientes com EIA e 80 controles saudáveis pareados foram genotipados usando o ensaio de reação em cadeia de polimerase de polimorfismos de comprimento de fragmentos de restrição (RCP-PCFR). Além disso, todos os estudos elegíveis publicados até junho de 2018 foram identificados por meio de uma pesquisa nas bases de dados PubMed, EMBASE, Google Scholar e China National Knowledge Infrastructure (CNKI). Calculamos as razões de probabilidades (RPs) e os intervalos de confiança de 95% (ICs95%) para avaliar a associação. Um total de 10 estudos elegíveis compreendendo 1.695 casos de EIA e 2.097 controles saudáveis foram incluídos na metanálise. Os dados agrupados sugeriram uma associação significativa entre o polimorfismo IL-6 -174G > C e a suscetibilidade a desenvolver EIA que foi demonstrada em quatro modelos genéticos, ou seja, alélico (C versus G; RP = 0,671; IC95%: 0,457–0,985; p = 0,042), heterozigótico (GC versus GG; RP = 0,734; IC95%: 0,554–0,973; p = 0,032), dominante (CC + GC versus GG; RP = 0,660; IC95%: 0,440–0,990; p = 0,044) e recessivo (CC versus CG + GG; RP = 0,506; IC95%: 0,264–0,970; p = 0,040). A análise de estratificação por etnia revelou um aumento do risco de desenvolver EIA em caucasianos, mas não em asiáticos. Esta metanálise, que é inconsistente com relação à metanálise anterior, sugere que o polimorfismo IL-6 -174G > C pode aumentar a suscetibilidade individual para desenvolver EIA, especialmente em caucasianos, e pode servir como um biomarcador para prever a população com alto risco de desenvolver EIA.

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Role of the IL-6 Gene in the Etiopathogenesis of Idiopathic Scoliosis

Cited by 11 publications

References 10 publications

Adolescent idiopathic scoliosis: evidence for intrinsic factors driving aetiology and progression

Adolescent idiopathic scoliosis: evidence for intrinsic factors driving aetiology and progression

Etiopathogenesis of idiopathic scoliosis

Associação do polimorfismo IL-6 -174G > C (rs1800795) com escoliose idiopática da adolescência: Evidências de um estudo de caso-controle e metanálise

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