Polymorphism in vitamin D receptor is associated with bone mineral density in patients with adolescent idiopathic scoliosis

Abstract

Low bone mass and osteopenia have been reported in the axial and peripheral skeleton of adolescent idiopathic scoliosis (AIS) patients. Furthermore, several recent studies have shown that gene polymorphisms are related to osteoporosis. However, no study has yet linked polymorphisms in the vitamin D receptor (VDR) gene and bone mass in AIS. Accordingly, the authors examined the association between bone mass and VDR gene polymorphisms in 198 girls diagnosed with AIS. The VDR BsmI (rs1544410), FokI (rs2228670) and Cdx2 (rs11568820) polymorphisms and bone mineral density at the lumbar spine (LSBMD) and femoral neck (FNBMD) were analyzed and compared to their levels in healthy controls. Mean LSBMD and FNBMD in AIS patients were lower than in age-and sex-matched healthy controls (P = 0.0022 and P = 0.0013, respectively). A comparison of genotype frequencies in AIS patients and controls revealed a significant difference for the BsmI polymorphism only (P = 0.0054). Furthermore, a significant association was found between the VDR BsmI polymorphism and LSBMD. In particular, LSBMD in AIS patients with the AA genotype was found to be significantly lower than in patients with the GA (P \ 0.05) or GG (P \ 0.01) genotypes. However, no significant association was found between LSBMD or FNBMD and the VDR FokI or Cdx2 polymorphisms. These results suggest that the VDR BsmI polymorphism is associated with LSBMD in girls with AIS.

Association between vitamin d levels and adolescent idiopathic scoliosis

“…8 Produced by the skin or ingested, it is metabolized and the end product of this pathway acts in various systems and performs vital roles in maintaining the structure and function of the musculoskeletal tissues. 4,10 Recent evidence suggests a material impact of vitamin D on bone mineral density and on the development of deformities, such as adolescent idiopathic scoliosis. Demographic analysis of the groups shows that they are well paired for the variables sex and ethnicity.…”

“…Studies show the importance of vitamin D in the maintenance of bone and muscle homeostasis, 1,10,11,15 and changes in the quality of these tissues may create an environment favorable to loss of alignment and the installation of deformities. 1,[4][5][6] We know that several factors influence vitamin D levels. Variations that can occur due to dietary habits, level of physical activity and amount of exposure to the sun were not covered in this study.…”

“…1,4 Some studies suggest an association between the development of adolescent idiopathic scoliosis (AIS) and polymorphisms of the vitamin D receptor (VDR) gene, a molecule that is crucial for maintaining adequate bone density. [4][5][6][7] Vitamin D has been extensively studied in recent years, and the importance of this structure has been found to surpass the musculoskeletal benefits, 4,8,9 acting in more than 30 organs and 200 genes 10 and exercising influence on the cardiovascular apparatus and the immune system. 4,8 It is also associated with a reduced risk of certain neoplastic diseases, such as colon, breast and prostate cancer.…”

“…[4][5][6][7] Vitamin D has been extensively studied in recent years, and the importance of this structure has been found to surpass the musculoskeletal benefits, 4,8,9 acting in more than 30 organs and 200 genes 10 and exercising influence on the cardiovascular apparatus and the immune system. 4,8 It is also associated with a reduced risk of certain neoplastic diseases, such as colon, breast and prostate cancer. 10 It appears in the form of D 2 (ergocalciferol) in plants and D 3 (cholecalciferol) in animals.…”

Participation of sex hormones in multifactorial pathogenesis of adolescent idiopathic scoliosis

“…Adolescent idiopathic scoliosis (AIS) is one of the most frequent forms of faulty posture [2,3]. This spinal deformation occurs mostly among pubescent girls [4]. Many authors emphasize multifactorial pathomechanism of scoliosis [5][6][7][8], and the involvement of genetic and epigenetic predispositions, and the influence of hormonal factors are widely accepted [6,7,[9][10][11][12][13][14][15].…”