Home | About JCVJS | Editorial board | Ahead of print | Current Issue | Archives | Instructions | Subscribe | Advertise | Contact us |   Login 
Journal of Craniovertebral Junction and Spine
Search Articles   
    
Advanced search   
 
ORIGINAL ARTICLE
Year : 2022  |  Volume : 13  |  Issue : 3  |  Page : 318-324

Polymorphisms in paired box 1 gene were associated with susceptibility of adolescent idiopathic scoliosis: A case–control study


1 Spine Surgery Center, National Institute of Traumatology and Orthopaedics (INTO), Rio de Janeiro, RJ; Departments of Orthopaedic and Anesthesiology, Ribeirão Preto Medical School, University of São Paulo, de São Paulo-Brazil, Brazil
2 Research Laboratory of Pharmaceutical Sciences (LAPESF), State University of Rio de Janeiro (UERJ), Rio de Janeiro, RJ, Brazil
3 Research Division of National Institute of Traumatology and Orthopaedics (INTO), Rio de Janeiro, RJ, Brazil
4 Departments of Orthopaedic and Anesthesiology, Ribeirão Preto Medical School, University of São Paulo, de São Paulo-Brazil, Brazil
5 Research Laboratory of Pharmaceutical Sciences (LAPESF), State University of Rio de Janeiro (UERJ); Research Division of National Institute of Traumatology and Orthopaedics (INTO), Rio de Janeiro, RJ, Brazil

Correspondence Address:
Jamila Alessandra Perini
Pharmaceutical Sciences Research Laboratory (LAPESF), State University of Rio de Janeiro (UERJ) (https://lapesfuezo.wixsite.com/website), Av. Manuel Caldeira de Alvarenga, 1.203. Zip-code: 23070-200, Rio de Janeiro
Brazil
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jcvjs.jcvjs_54_22

Rights and Permissions

Background: Association of genetic polymorphisms in paired box 1 (PAX-1) gene can influence the development of adolescent idiopathic scoliosis (AIS). PAX-1 is mainly expressed in the region of the vertebral bodies and intervertebral discs, being important for the proper formation of spinal structures. Objectives: The objective of this study was to evaluate the association of polymorphisms in PAX-1 gene with the susceptibility of AIS. Settings and Design: This was an analytical observational case–control study. Materials and Methods: Samples of 59 AIS indicated for surgical treatment, and 119 controls, without spinal disease were genotyped for PAX-1 rs6137473 and rs169311 polymorphisms. Statistical Analysis: The association of the polymorphisms with AIS was evaluated by a multivariable logistic regression model, using odds ratios (OR) and 95% confidence intervals (CI). Results: According to Lenke's classification, 89.8% had Type I and 10.2% II curves. The mean value of the Cobb angle of the proximal thoracic curve was 30.8°, 58.7° thoracic, and 30.4° for the lumbar and on the bending films 14.6°, 40.7°, and 11°, respectively. Among the AIS group, there was a predominance of females (8.8:1). The PAX-1 rs169311 and rs6137473 polymorphisms were positively associated with developing the AIS (OR = 1.98; 95% CI = 1.2–3.3 and OR = 3.16; 95% CI = 1.4–7.3, respectively). The rs6137473 polymorphism was associated with the lumbar modifier B and C compared to A (OR = 2.52; 95% CI = 1.1–5.8). Conclusions: PAX-1 polymorphisms were associated with an increased risk of developing the AIS and with curve severity and can be used as a biomarker to map the risk of developing surgical-grade AIS, guiding the treatment of patients.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed170    
    Printed0    
    Emailed0    
    PDF Downloaded15    
    Comments [Add]    

Recommend this journal