Differentiated health-saving strategy for idiopathic scoliosis based on rs1107946 polymorphism genotype of the COL1A1 gene

Objectives. To assess the association of the COL1A1 gene rs1107946 polymorphism with the risk of idiopathic scoliosis (IS) development and the effectiveness of conservative treatment in school-aged children for the development of a differentiated prevention and correction strategy. Material and methods. A retrospective cohort study was conducted involving 166 girls and 76 boys with IS, and 104 participants in the control group. The prospective research part on the dynamics during standard treatment involved 67 children. Genotyping was performed by real-time PCR. Treatment effectiveness was assessed using computer optical topography and functional muscle tests. Results. The CC genotype was found to be a risk factor for early onset of IS (6-8 years), especially in boys (OR=8.00; p=0.003). The A allele demonstrated a protective effect. The genotype modulated the response to treatment: carriers of the CA genotype showed better dynamics of deformity correction and a significant improvement in the strength endurance of back muscles (η²=0.270; p=0.038) compared to the CC genotype. Conclusions. The COL1A1 gene rs1107946 polymorphism is a significant marker for stratifying the risk of early IS development and predicting the effectiveness of conservative treatment. Differentiated prevention and correction strategies for AA, CA, and CC genotypes have been developed based on the genotype.