Calcified Tissue International

, Volume 94, Issue 6, pp 590–596

Heritability of Bone Mineral Density in a Multivariate Family-Based Study

  • Nerea Hernandez-de Sosa
  • Georgios Athanasiadis
  • Jorge Malouf
  • Ana Laiz
  • Ana Marin
  • Silvia Herrera
  • Jordi Farrerons
  • Jose Manuel Soria
  • Jordi Casademont
Original Research

DOI: 10.1007/s00223-014-9852-9

Cite this article as:
Sosa, N.H., Athanasiadis, G., Malouf, J. et al. Calcif Tissue Int (2014) 94: 590. doi:10.1007/s00223-014-9852-9

Abstract

There is evidence for a genetic contribution to bone mineral density (BMD×). Different loci affecting BMD have been identified by diverse linkage and genome-wide association studies. We studied the heritability of and the correlations among six densitometric phenotypes and four bone mass/fracture phenotypes. For this purpose, we used a family-based study of the genetics of osteoporosis, the Genetic Analysis of Osteoporosis Project. The primary aim of our study was to examine the roles of genetic and environmental factors in determining osteoporosis-related phenotypes. The project consisted of 11 extended families from Spain. All of them were selected through a proband with osteoporosis. BMD was measured using dual-energy X-ray absorptiometry. The proportion of variance of BMD attributable to significant covariates ranged from 25 % (for femoral neck BMD) to 48 % (for whole-body total BMD). The vast majority of the densitometric phenotypes had highly significant heritability, ranging from 0.252 (whole-body total BMD) to 0.537 (trochanteric BMD) after correcting for covariate effects. All of the densitometric phenotypes showed high and significant genetic correlations (from −0.772 to −1.000) with a low bone mass/osteopenia condition (Affected 3). Our findings provide additional evidence on the heritability of BMD and a strong genetic correlation between BMD and bone mass/fracture phenotypes in a Spanish population. Our results emphasize the importance of detecting genetic risk factors and the benefit of early diagnosis and especially therapeutic and preventive strategies.

Keywords

HeritabilityBone mineral densityFamily-based genetic studyOsteoporosisGenetic variation

Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • Nerea Hernandez-de Sosa
    • 1
    • 3
  • Georgios Athanasiadis
    • 2
  • Jorge Malouf
    • 1
  • Ana Laiz
    • 1
  • Ana Marin
    • 1
  • Silvia Herrera
    • 1
  • Jordi Farrerons
    • 1
  • Jose Manuel Soria
    • 2
  • Jordi Casademont
    • 1
  1. 1.Department of Internal MedicineHospital de la Santa Creu i Sant Pau, Autonomous University of BarcelonaBarcelonaSpain
  2. 2.Department of Genomics of Complex Diseases, Research InstituteHospital de la Santa Creu i Sant PauBarcelonaSpain
  3. 3.Unit of Internal MedicineHospital de la Santa Creu i Sant PauBarcelonaSpain