Genetics and pathogenesis of idiopathic scoliosis

Grauers, Anna; Einarsdottir, Elisabet; Gerdhem, Paul

doi:10.1186/s13013-016-0105-8

Cited by 58 publications

(50 citation statements)

References 79 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…We agree with Grauers et al (2016) that a genetic approach focused on finding common variants (GWAS) will not reveal rare variants; on the other hand linkage studies of a family may identify disease causing variants in that specific family but these findings might not be applicable in most patients. Wajchenberg et al (2010) using a genetic linkage study in a family with multiple affected individuals, could not isolate the genetic region responsible for AIS.…”

Section: Discussionsupporting

confidence: 63%

Research Article Lack of differences in the expression of the angiotensin I - converting enzyme gene in the rotator muscles of patients with adolescent idiopathic scoliosis in a cross-sectional study comparing between the concave and convex sides of the scoliosis.

Wajchenberg¹,

Martins²,

Luciano³

et al. 2019

Genet. Mol. Res.

View full text Add to dashboard Cite

Several theories have been proposed to explain the etiology of adolescent idiopathic scoliosis (AIS), but none is conclusive. One such theory suggests the primary involvement of muscles due to myopathy, mainly affecting the erector and paravertebral rotator muscles. Studies indicate that there may be an association of AIS with genetic polymorphisms previously associated with physical performance and muscle power through their effects on muscle tissue. One of these is the gene coding for the angiotensin converting enzyme (ACE). We compared the expression of ACE gene polymorphisms in the concave and convex sides of the scoliotic curve in patients with AIS. We evaluated ACE gene expression in the multifidus muscles of the spine of 21 patients operated for AIS correction who had signs of asymmetric myopathy (worse in the concavity). Tissue samples were collected during corrective surgery. There was no significant difference in ACE gene expression in multifidus muscle samples from the two sides of the apex of the thoracic AIS deformity. There were also no differences in the expression of insertion/deletion polymorphisms. ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 18 (2): gmr18246 M. Wajchenberg et al. 2

show abstract

Section: Discussionsupporting

confidence: 63%

Research Article Lack of differences in the expression of the angiotensin I - converting enzyme gene in the rotator muscles of patients with adolescent idiopathic scoliosis in a cross-sectional study comparing between the concave and convex sides of the scoliosis.

Wajchenberg¹,

Martins²,

Luciano³

et al. 2019

Genet. Mol. Res.

View full text Add to dashboard Cite

show abstract

“…Gene regulation and certain alleles, such as 5A, have been indicated as risk factors for the acceleration of degenerative lumbar disc changes. 12,31 Thus, the relationship between MMP-3 polymorphisms and IS has been one of the most investigated associations and the one presented in the greater number of studies. However, in spite of those studies reporting this possible action, there is no consensus about the already proven relationship between MMP-3 and the onset or progression of IS.…”

Section: Mmp-3mentioning

confidence: 99%

“…10,11 Studies about the familial aggregation of IS and concordance in monozygotic twins provided the first evidence of a possible primary genetic cause of the disease. 12,13 Family-based genetic linkage studies have identified multiple loci of susceptibility. 14,15 Loci have been identified that implicate possible biological processes related to the pathogenesis of IS, such as axial modeling, cartilage formation, and growth asymmetries.…”

Section: Introductionmentioning

confidence: 99%

Genetic Aspects of Idiopathic Escoliosis - A Literature Review

Filho

Abe

Melo³

et al. 2019

Coluna/Columna

View full text Add to dashboard Cite

The idiopathic scoliosis (IS) is the most common form of spinal deformity. The pathogenesis of IS is still poorly understood. Several studies show evidence that the genetic component is determinant to the development of IS. In this setting, a crescent focus has been placed on the identification of genes, associated genetic polymorphisms, and multiple susceptibility loci. This review highlights the genes and genetic polymorphisms currently studied, identified as influential in the genesis of IS, such as MMP-3, IL-6, type I collagen, and vitamin D and estrogen receptors. We concluded that IS remains a complex disease with a polygenic background and that genetic polymorphisms are intrinsically related to this condition. Level of evidence III; Narrative Review.

show abstract

“…According to these measurements, a scoliotic curve of the spine is defined as (i) mild scoliosis (10-25°, requires monitoring), (ii) significant scoliosis (25-40°, treated with bracing), and (iii) severe scoliosis (over 40°, requires surgery) [5]. Recently, a number of the scoliosis patients are growing up to 2-3% worldwide due to the unawareness of people [6]. It is important to predict risk of progression, diagnose at early stage for preventing degenerative effects, and contribute to the patient's quality of life.…”

Section: Introductionmentioning

confidence: 99%

“…It is important to predict risk of progression, diagnose at early stage for preventing degenerative effects, and contribute to the patient's quality of life. Unfortunately, in some cases, rapid progress on spine deformity or late diagnosis is resulted with surgical operations that are necessary to stabilize the spine by means of rod placement on each affected vertebra [6]. All operations require precise processes in a limited workspace because of the spinal nerves and blood vessels.…”

Section: Introductionmentioning

confidence: 99%

Surgical Planning and Additive Manufacturing of an Anatomical Model: A Case Study of a Spine Surgery

Aydin¹,

Çakır²,

Dilek³

et al. 2020

Medical Robotics - New Achievements

View full text Add to dashboard Cite

3D scanning technologies have promising solutions for medical needs such as anatomical models, biocompatible implants, and orthotic/prosthetic models. Although virtual presurgical planning offers more precise results, it may not be applied in every hospital because of the high costs. The aim of this study is to assess the accuracy of the suggested low-cost and effective surgical planning method by means of additive manufacturing to increase success rate of each surgery. In this study, a full spine model of a scoliosis patient was acquired and reconstructed in MIMICS software using different filters and parameters. Therefore, a comparison in terms of geometrical errors among each model was performed based on a reference model. Subsequently, patient-specific full spine model was manufactured using a three-dimensional printing method (fused deposition modeling) and utilized before the surgery. 3D surgical model reconstruction parameters such as wrap tool, binomial blur, and curvature flow filters produced high geometrical errors, while mean filter produced the lowest geometrical error. Furthermore, similarity results of the curvature flow and discrete Gaussian filters were close to mean filter. Smooth tool and mean filter produced almost the same volume of the reference model. Consequently, an ideal protocol for surgical planning of a spine surgery is defined with measurable accuracy. Thus, success rate of a spine surgery may be increased especially for the severe cases owing to the more accurate preoperative review: operability.

show abstract

Genetics and pathogenesis of idiopathic scoliosis

Cited by 58 publications

References 79 publications

Research Article Lack of differences in the expression of the angiotensin I - converting enzyme gene in the rotator muscles of patients with adolescent idiopathic scoliosis in a cross-sectional study comparing between the concave and convex sides of the scoliosis.

Research Article Lack of differences in the expression of the angiotensin I - converting enzyme gene in the rotator muscles of patients with adolescent idiopathic scoliosis in a cross-sectional study comparing between the concave and convex sides of the scoliosis.

Genetic Aspects of Idiopathic Escoliosis - A Literature Review

Surgical Planning and Additive Manufacturing of an Anatomical Model: A Case Study of a Spine Surgery

Contact Info

Product

Resources

About