| ORIGINAL ARTICLE |
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| Year : 2022 | Volume
: 13
| Issue : 3 | Page : 318-324 |
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Polymorphisms in paired box 1 gene were associated with susceptibility of adolescent idiopathic scoliosis: A case–control study
Antônio Eulálio Pedrosa1, Gustavo Borges Laurindo de Azevedo1, Jessica Vilarinho Cardoso2, João Antonio Matheus Guimarães3, Helton Luiz Aparecido Defino4, Jamila Alessandra Perini5
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
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/jcvjs.jcvjs_54_22
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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.
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