Investigation of LBX1, TIMP2, GPR126 and CHD7 gene polymorphisms in adolescent idiopathic scoliosis patients

Abstract

Study Design Prospective genetic cohort study. Objective Adolescent idiopathic scoliosis (AIS) is a common spinal disorder affecting individuals aged 10-18 years without other underlying health conditions. This study aimed to examine the potential etiologic association between AIS and polymorphisms in the LBX1 (rs11190870, rs625039, rs11598564), TIMP2 (rs8179090), GPR126 (rs6570507), and CHD7 (rs121434341) genes in Turkish patients. Additionally, the relationships of these polymorphisms with sex, age, age at diagnosis, and Cobb angle were evaluated. Methods The study included 301 individuals: 201 patients with AIS (aged 10-18 years, Cobb angle >= 10 degrees, no genetic disorders or related diseases), and 100 healthy controls (aged 10-18 years, no scoliosis diagnosis). The study analyzed rs625039, rs11598564, rs6570507, rs121434341, rs11190870, and rs8179090 polymorphisms in patients with AIS and controls using RT-PCR, confirmed the SNP regions through DNA sequencing, and performed statistical analysis. Results In this study, the rs11190870 polymorphism of the LBX1 gene demonstrated a statistically significant difference between patients with AIS and the control group (P < .001), but no significance was observed for the other polymorphisms analyzed. Sex-based analysis revealed a significant association for the LBX1 rs11598564 polymorphism, with a higher frequency observed in females (P = .029); no significant differences were identified for the other polymorphisms in terms of sex. The rs8179090 and rs121434341 polymorphisms, previously associated with AIS in other populations, showed no statistically significant association in the present study cohort. Conclusion The LBX1 gene rs11190870 polymorphism was found to be associated with AIS in Turkish patients.