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

Autor: Pedrosa AE; 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., de Azevedo GBL; 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., Cardoso JV; Research Laboratory of Pharmaceutical Sciences (LAPESF), State University of Rio de Janeiro (UERJ), Rio de Janeiro, RJ, Brazil., Guimarães JAM; Research Division of National Institute of Traumatology and Orthopaedics (INTO), Rio de Janeiro, RJ, Brazil., Defino HLA; Departments of Orthopaedic and Anesthesiology, Ribeirão Preto Medical School, University of São Paulo, de São Paulo-Brazil, Brazil., Perini JA; Research Laboratory of Pharmaceutical Sciences (LAPESF), State University of Rio de Janeiro (UERJ), Rio de Janeiro, RJ, Brazil.; Research Division of National Institute of Traumatology and Orthopaedics (INTO), Rio de Janeiro, RJ, Brazil.
Jazyk: angličtina
Zdroj: Journal of craniovertebral junction & spine [J Craniovertebr Junction Spine] 2022 Jul-Sep; Vol. 13 (3), pp. 318-324. Date of Electronic Publication: 2022 Sep 14.
DOI: 10.4103/jcvjs.jcvjs_54_22
Abstrakt: 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.
Competing Interests: There are no conflicts of interest.
(Copyright: © 2022 Journal of Craniovertebral Junction and Spine.)
Databáze: MEDLINE
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