Single-nucleotide polymorphism of the osteoprotegerin gene and its association with bone mineral density in Chinese postmenopausal women

J Pediatr Endocrinol Metab. 2012;25(11-12):1141-4. doi: 10.1515/jpem-2012-0274.

Abstract

Objective: Osteoporosis is a common complex and polygenic disease in postmenopausal women, which is characterized by a decrease in bone mineral density (BMD). The osteoprotegerin (OPG) is an important candidate gene in the pathogenesis of osteoporosis. The aim of this study was to investigate the association between single-nucleotide polymorphisms (SNPs) in the OPG gene and BMD.

Methods: OPG gene polymorphisms and BMD were analyzed in 352 Chinese postmenopausal women. BMD was quantified at the lumbar spine (L2-4), femoral neck, and total hip.

Results: Through polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing methods, an allelic variant corresponding to the G→A mutations at position 23276 in exon 3 of the OPG gene could be detected. The association between g.23276 G>A polymorphisms and BMD was analyzed, and a significant association was found between g.23276 G>A and spine BMD. The mean of genotype GG was significantly higher than those of genotype GA and AA. There was no significant difference in neck hip BMD and total hip BMD among different genotypes.

Conclusions: These findings suggested that g.23276 G>A genotypes in the OPG gene were associated with spine BMD in Chinese postmenopausal women. The A-allele was associated with lower BMD and an increased risk for osteoporosis.

MeSH terms

  • Bone Density / physiology*
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Middle Aged
  • Osteoporosis, Postmenopausal / genetics*
  • Osteoporosis, Postmenopausal / metabolism
  • Osteoprotegerin / genetics*
  • Polymorphism, Single Nucleotide*
  • Postmenopause / physiology*

Substances

  • Osteoprotegerin
  • TNFRSF11B protein, human