Role of the genetic predisposition as a risk factor for osteoporosis

Ilenia Pepe, Domenico Merendino, Vasiliki Sarakatsianou, Claudia Maggio, Dario Bruno, Stefania Sferrazza, Graziella Taormina, Andrea Abruzzese, Graziella Cardella, Giuseppe Ambrosiano, Antonino Reina, Pasquale Mansueto, Dino Gullotti, Paolo Rigano, Nicoli Napoli

Research output: Contribution to journalArticlepeer-review


Osteoporosis is defined as a skeletal disorder characterized by compromised bone strength predisposing a person to an increased risk of fracture. This pathology is a complex disorder with a strong genetic component. It is characterized by low bone mineral density, bone tissue microarchitectural disorders and predisposition to an increased risk of fracture. Twins and families studies have shown that genetic factors play a main role in the bone mass variability up to 50-85%. Many studies have also aimed at identifying polymorphisms of genes involved in such a pathology. Linkage and association studies on various populations, have analyzed the presence of polymorphisms in candidated genes in relation to bone mineral density and bone properties. Candidated genes has been chosen on the base of their biological effects on bone metabolism, bone cells and extracellular matrix. Linkage Studies has defined the loci of the genes which regulate bone mass; nevertheless, disagreements on associations between genotypes and BMD still needs further examinations. We will review polymorphisms of genes mainly involved in bone fragility and risk of fractures.

Original languageEnglish
Pages (from-to)7-14
Number of pages8
JournalActa Medica Mediterranea
Issue number1
Publication statusPublished - 2006


  • Genetics
  • Osteoporosis
  • Risk factors

ASJC Scopus subject areas

  • Medicine(all)


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