Association of spine deformation progression in children with idiopathic scoliosis and folate cycle gene polymorphism

Abstract

Background. One of the most common orthopedic pathologies in children aged 10–18 years is idiopathic scoliosis, which is diagnosed in 2%–3% of cases in the general population.
 Aim. To compare the distributions of the allele frequencies and folate cycle gene genotypes among the MTHFR 677 C>T (rs 1801133), MTHFR 1298 A>C (rs 1801131), MTR 2756 A>G (rs 1805087), and MTRR 66 A>G (rs 1801394) polymorphisms in patients with idiopathic scoliosis and in children without spinal deformity. To also analyze the relationship between the studied molecular-genetic markers and development of scoliosis.
 Materials and methods. Clinical and genetic examinations were performed in 48 children with idiopathic scoliosis and 32 healthy children. Molecular-genetic testing was performed by polymerase chain reaction.
 Results and discussion. We found that the percentage of carriers of pathological alleles and genotypes was higher in the children with idiopathic scoliosis than in the general population.
 The number of pathological alleles and genotypes associated with the MTHFR (A1289C) and MTRR genes was significantly higher in patients with idiopathic scoliosis than in the control group.
 Сonclusion. We found that the percentage of carriers of pathological alleles and genotypes was higher in children with idiopathic scoliosis than in the population.