The gene polymorphisms of COL1A1 and VDR in children with scoliosis

Abstract

Background. Identification of the genetic prerequisites for development of spinal deformity.

Aim. The aim of the study was to assess the frequency of distribution of alleles and genotypes for polymorphisms −3731A/G (Cdx2) and +61968T/C (TaqI) of the VDR gene and −1997G/T and +1245G/T (Sp1) of the COL1A1 gene in children with scoliosis of various etiologies and in healthy children.

Materials and methods. Clinical genetic testing was performed in 154 children with congenital scoliosis, 145 children with idiopathic scoliosis, and 278 children without an orthopedic pathology. The molecular genetic testing was performed by PCR.

Results. Genotype tt/GG VDR gene incidence is twice as high in children with congenital scoliosis than in children who do not have scoliosis (11% and 5.2% of cases, respectively; χ² = 4.17; df = 1; p = 0.04).

Conclusion. We have found that children with the allele carriers t(C) and genotype tt(CC) in patients with congenital scoliosis were significantly more likely than children without scoliosis spinal deformity.

Keywords

congenital scoliosis / idiopathic scoliosis / polymorphism / genes

References

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RIGHTS & PERMISSIONS

Vissarionov S.V., Larionova V.I., Kazarian I.V., Filippova A.N., Kostik M.M., Voitovich A.N., Rotchev E.V.