Genetic and environmental factors in human osteoporosis

Mol Biol Rep. 2012 Dec;39(12):11289-96. doi: 10.1007/s11033-012-2038-5. Epub 2012 Oct 14.


Osteoporosis is a common disorder, with prolongation of the average life span it has become a major public health problem. On the formation of osteoporosis genetic factors and environmental influences could play a role then it is considered as multi-factorial. Because a variety of functions to affect susceptibility to the formation of osteoporosis VDR-F, VDR-B, COL1A1, ESR1X, ESR1P and CTR are thought to be candidate genes. In this study, the aim is to investigate the relationship between these genes polymorphism and bone mineral density (BMD) values of lumbar vertebra and femoral neck in 188 Turkish people. Lumbar spine and femoral neck BMD of the individuals included in the study were measured by the dual X-ray absorptiometry method. The genotyped polymorphisms by simultaneous amplification of five regions of the genome, containing six SNPs of interest and detecting the amplified product, using the kit MetaBone Clinical Arrays(®). Statistical analyses indicated that; VDR-B gene polymorphisms major (P = 0.013), VDR-F polymorphisms have minor (P = 0.082) effect on femur BMD. None of the other genes has any significant effect on spinal BMD. Patient age, body mass index and diet has significant effect on femoral and spinal BMD. Osteoporosis is a multi-factorial disease and many genetic and non-genetic risk factors contribute to the development of osteoporosis. Early detection of a genetic predisposition to osteoporosis should allow delay and/or limit unfavorable changes in the bone tissue.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Density / genetics
  • Environment*
  • Femur / physiopathology
  • Gene Frequency / genetics
  • Genetic Predisposition to Disease*
  • Humans
  • Lumbar Vertebrae / physiopathology
  • Osteoporosis / genetics*
  • Osteoporosis / physiopathology
  • Polymorphism, Genetic
  • Receptors, Calcitriol / genetics
  • Regression Analysis
  • Reproducibility of Results
  • Risk Factors


  • Receptors, Calcitriol