Association between Estrogen Receptor Alpha Gene Polymorphisms and Susceptibility to Idiopathic Scoliosis in Bulgarian Patients: A Case-Control Study

Nikolova, Svetla; Yablanski, Vasil; Vlaev, Evgeni; Stokov, Luben; Savov, Alexey; Kremensky, Ivo

doi:10.3889/oamjms.2015.054

Cited by 10 publications

(8 citation statements)

References 21 publications

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“…This is possible because of the reactions analysis and postural strategies, which forms the basis of mechanisms that promote the body in balance (Saifi, Kang & Lehman, 2016). Balance is a certain state of postural system, which is characterized by the vertical orientation of the body achieved due to aligning the forces acting on a body and their moments (Nikolova et al 2015). The balance is provided by the nervous system through the reflex tension of respective muscle groups called anti-gravity muscles (Romano et al 2008).…”

Section: Resultsmentioning

confidence: 99%

The Analysis of Selected Posturogram Parameters in Children with Scoliotic Changes

Wilczyński¹,

Habik²,

Bieniek³

et al. 2018

MAS

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The aim of the research was to analyze selected posturogram parameters in children with scoliotic changes. 28 girls aged 7-18 years old were involved in the study. Children attended to the Interschool Centre of Corrective Exercises in Starachowice. The research was conducted in June 2011. Spine research was made by Exhibeon digital radiography. Based on the size of the angle of spinal curvature there were identified scoliotic posture: 1-9° and scoliosis: ≥10°. There were 21 (75%) children with scoliotic posture, and 7 (25%) with idiopathic scoliosis. The frequency and type of defect didn't depended on age. Postural reactions were examined by static-dynamic Tecnobody's ST 310 Plus Stability System platform. Perimeter was from 539,46 with opened eyes (OE) to 759,04 with closed eyes (CE). The difference in Romberg's Test was 219,58. Ellipse area was from 447,46 with opened eyes (OE) to 850,32 with closed eyes (CE). The difference in Romberg's Test was 402,86. Perimeter ratio was 146,68, and Area ratio was 213,89. Analysis of variance showed a significant effect of study options which clearly differentiates Permeter (p=0,000008) and Ellipse Area (p=0,029882) in the research with opened and closed eyes. In a study with closed eyes it has been observed a significant increase of posturogram variables. Analysis of variance for Area ratio didn't show any significant effects (p= 0,376899) similarly for Perimeter ratio (p=0,523086). Posturogram variables generally decreased with age, however the analysis of variance didn't show any statistically significant effects. The analysis of the Spearman rank correlation of posturogram variables with age of examined persons also didn't show any significant associations.

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Section: Resultsmentioning

confidence: 99%

The Analysis of Selected Posturogram Parameters in Children with Scoliotic Changes

Wilczyński¹,

Habik²,

Bieniek³

et al. 2018

MAS

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“…ESR1 gene is expressed in both human bone cells( osteoclasts and osteoblasts) and its mutations were recognized as a causative factor for increased bone resorption and impaired skeletal growth. In 2015, a case-control study demonstrated that the ESR1 PvuII genetic polymorphism is associated with IS and curve severity in the Bulgarian population 13 . The vitamin D receptor (VDR) is defined as a ligand-activated transcription factor that controls gene expression in several cell types, including immune cells.…”

Section: Genetic Factorsmentioning

confidence: 99%

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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“…As a well established AIS susceptibility gene in the Caucasian population, the CHL1 gene failed to be replicated in the Chinese Han population [ 26 ]. The ESR1 gene was firstly confirmed to be associated with AIS in the Japanese population and later successfully validated in the Chinese and the Caucasian population [ 13 , 14 , 27 , 28 ]. Interestingly, this association was not supported by other 3 replication studies separately performed in the Asian and the Caucasian population [ 29 – 31 ].…”

Section: Introductionmentioning

confidence: 99%

The TGFB1 gene is associated with curve severity but not with the development of adolescent idiopathic scoliosis: a replication study in the Chinese population

Sun

Qin

et al. 2016

BMC Musculoskelet Disord

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BackgroundThe transforming growth factor beta-1 (TGFB1) gene was recently reported to be a new susceptible gene of adolescent idiopathic scoliosis (AIS) in Russian population. This study aimed to replicate the relationship between the TGFB1 gene and the susceptibility of AIS in a Chinese population, and to further describe its association with the curve severity.MethodsA total of 1251 female AIS patients and 994 age-matched healthy controls were included in this study. The rs1800469 of TGFB1 gene was genotyped for all participants using the PCR-based Invader assay. The differences of genotype and allele distributions between AIS patients and healthy controls were assessed using the Chi-square test. One-way ANOVA test was used to compare the mean Cobb angles among patients with different genotypes.ResultsThere was no significant difference in terms of the genotype and the allele frequency between the patients and the controls. The mean Cobb angle was 34.7 ± 11.9° (range 25–61°). Case-only analysis showed that rs1800469 was significantly associated with the curve severity. Patients with genotype TT had remarkably higher curve magnitude (39.1 ± 12.8°) than those with genotype CT (34.8 ± 11.1°) or CC (32.1 ± 10.6°).ConclusionsThe TGFB1 gene may not be a predisposition gene of AIS in the Chinese population. However, it can play a role in the curve progression of AIS. Replication studies in other ethnic groups are warranted to understand the implication of TGFB1 gene in AIS.

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Association between Estrogen Receptor Alpha Gene Polymorphisms and Susceptibility to Idiopathic Scoliosis in Bulgarian Patients: A Case-Control Study

Cited by 10 publications

References 21 publications

The Analysis of Selected Posturogram Parameters in Children with Scoliotic Changes

The Analysis of Selected Posturogram Parameters in Children with Scoliotic Changes

Etiopathogenesis of idiopathic scoliosis

The TGFB1 gene is associated with curve severity but not with the development of adolescent idiopathic scoliosis: a replication study in the Chinese population

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