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

Abstract

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.

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 andOR = 3.16;95%CI = 1.4–7.3, respectively). The rs6137473 polymorphism was associated with the lumbarmodifier 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.