Genetic Predisposition for Osteoporosis and Fractures in Postmenopausal Women

  • Tomasz Mitek
  • Łukasz Nagraba
  • Jarosław Deszczyński
  • Magda Stolarczyk
  • Ernest KucharEmail author
  • Artur Stolarczyk
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1211)


Osteoporosis is a disease with complex etiology where the genetic factors may account for as much as 50–85% of the risk of its development in postmenopausal women. The polymorphism of estrogen receptor genes (ESR1, ESR2) seems essential among the genetic factors. The goal of this study was to analyze polymorphisms of selected genes in a population of postmenopausal women treated for osteoporosis and to evaluate the influence of genetic and nongenetic factors on the estimated 10-year risk of fracture. The study group consisted of 214 women hospitalized for treatment of postmenopausal osteoporosis. We investigated the presence of ESR1, ESR2, LRP5, and WNT16 genetic polymorphisms and the risk of fracture in each woman. The main finding was that of significant differences in the polymorphisms of the WNT16 rs2908004 genetic variant, notably, the less frequent presence of TC allele in women with a greater risk of osteoporotic fractures. We conclude that the polymorphism of the WNT16 gene seems highly relevant in the pathogenesis of osteoporosis, which makes it a promising object for further research on the genetic background of fracture risk.


Fracture risk Gene mapping Gene polymorphism Genetic predisposition Osteoporosis Postmenopausal women WNT16 gene 


Conflicts of Interest

The authors declare no conflicts of interest in relation to this article.

Ethical Approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed Consent

Informed consent was obtained from all individual participants included in the study.


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Tomasz Mitek
    • 1
  • Łukasz Nagraba
    • 1
  • Jarosław Deszczyński
    • 1
  • Magda Stolarczyk
    • 1
  • Ernest Kuchar
    • 2
    Email author
  • Artur Stolarczyk
    • 3
  1. 1.Department of Orthopedics and RehabilitationWarsaw Medical UniversityWarsawPoland
  2. 2.Department of Pediatrics with Clinical Assessment UnitWarsaw Medical UniversityWarsawPoland
  3. 3.Department of Clinical RehabilitationWarsaw Medical UniversityWarsawPoland

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