Genetic Contribution of Femoral Neck Bone Geometry to the Risk of Developing Osteoporosis: A Family-Based Study

PLoS One. 2016 May 10;11(5):e0154833. doi: 10.1371/journal.pone.0154833. eCollection 2016.

Abstract

Femoral neck geometry parameters are believed to be as good as bone mineral density as independent factors in predicting hip fracture risk. This study was conducted to analyze the roles of genetic and environmental factors in femoral properties measured in a sample of Spanish families with osteoporotic fractures and extended genealogy. The "Genetic Analysis of Osteoporosis (GAO) Project" involved 11 extended families with a total number of 376 individuals. We studied three categorical phenotypes of particular clinical interest and we used a Hip structural analysis based on DXA to analyze 17 strength and geometrical phenotypes of the hip. All the femoral properties had highly significant heritability, ranging from 0.252 to 0.586. The most significant correlations were observed at the genetic level (ρG). Osteoporotic fracture status (Affected 2) and, particularly, low bone mass and osteoporotic condition (Affected 3) had the highest number of significant genetic correlations with diverse femoral properties. In conclusion, our findings suggest that a relatively simple and easy to use method based on DXA studies can provide useful data on properties of the Hip in clinical practice. Furthermore, our results provide a strong motivation for further studies in order to improve the understanding of the pathophysiological mechanism underlying bone architecture and the genetics of osteoporosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Absorptiometry, Photon
  • Aged
  • Bone Density
  • Family
  • Female
  • Femoral Neck Fractures / diagnostic imaging*
  • Femoral Neck Fractures / genetics*
  • Femoral Neck Fractures / pathology
  • Femur Neck / diagnostic imaging*
  • Femur Neck / metabolism
  • Femur Neck / pathology
  • Humans
  • Middle Aged
  • Osteoporosis, Postmenopausal / diagnostic imaging*
  • Osteoporosis, Postmenopausal / genetics*
  • Osteoporosis, Postmenopausal / pathology
  • Pedigree
  • Phenotype
  • Prognosis
  • Risk

Grants and funding

The project was supported by the National Fund of Sanitary Investigations (FIS PI 11/01175 and PI 14/01036). Georgios Athanasiadis was supported by the Subprogama Nacional de Contratación e Incorporación de Investigadores Juan de la Cierva (Secretaría de Estado, Ministerio de Economía y Competitividad).