Association between osteoprotegerin gene polymorphism and bone mineral density in patients with adolescent idiopathic scoliosis

Eur Spine J. 2009 Dec;18(12):1936-40. doi: 10.1007/s00586-009-1145-z. Epub 2009 Aug 25.

Abstract

Generalized low bone mass and osteopenia have been reported in the axial and peripheral skeleton of adolescent idiopathic scoliosis (AIS) patients. Recently, many studies have shown that gene polymorphisms are related to osteoporosis. However, no studies have linked the association between gene polymorphisms and bone mass of AIS. Therefore, this study examined the association between the bone mass and RANKL, RANK, and OPG gene polymorphisms in 198 girls diagnosed with AIS. OPG 163 A --> G, 209 G --> A, 245 T --> G, and 1181 G --> C polymorphisms; RANK 421 C --> T and 575 C --> T polymorphisms; and RANKL rs12721445 and rs2277438 polymorphisms, as well as the bone mineral density at the lumbar spine (LSBMD) and femoral neck (FNBMD) were analyzed. The 163 A --> G, 209 G --> A, and 245 T --> G polymorphisms in the OPG gene were in complete linkage. No RANK 421 C --> T and 575 C --> T polymorphisms or RANKL rs12711445 polymorphism were observed. There was a significant association between the OPG gene 1181 G --> C polymorphism and LSBMD. LSBMD in AIS with the CC genotype was found to be significantly higher than in AIS with the GC (P < 0.05) or GG (P < 0.01) genotype. However, there was no significant association between LSBMD or FNBMD and the OPG gene 245 T --> G polymorphism or the RANKL rs2277438 polymorphism. These results suggest that the OPG gene 1181 G --> C polymorphism is associated with LSBMD in girls with AIS.

MeSH terms

  • Adolescent
  • Base Sequence / genetics
  • Bone Density / genetics*
  • Bone Diseases, Metabolic / genetics
  • Bone Diseases, Metabolic / metabolism
  • Bone Diseases, Metabolic / physiopathology
  • Bone and Bones / diagnostic imaging
  • Bone and Bones / metabolism
  • Bone and Bones / pathology
  • Child
  • DNA Mutational Analysis
  • Female
  • Femur Neck / diagnostic imaging
  • Femur Neck / metabolism
  • Femur Neck / pathology
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Genotype
  • Humans
  • Lumbar Vertebrae / diagnostic imaging
  • Lumbar Vertebrae / metabolism
  • Lumbar Vertebrae / pathology
  • Osteoporosis / genetics
  • Osteoporosis / metabolism
  • Osteoporosis / physiopathology
  • Osteoprotegerin / genetics*
  • Polymorphism, Genetic / genetics*
  • RANK Ligand / genetics
  • Radiography
  • Receptor Activator of Nuclear Factor-kappa B / genetics
  • Scoliosis / genetics*
  • Scoliosis / metabolism*
  • Scoliosis / physiopathology

Substances

  • Genetic Markers
  • Osteoprotegerin
  • RANK Ligand
  • Receptor Activator of Nuclear Factor-kappa B
  • TNFRSF11A protein, human