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Bone Abstracts (2013) 1 CU1.3 | DOI: 10.1530/boneabs.1.CU1.3

ECTS2013 Clinical Update Clinical Update 1 (6 abstracts)

Genetic determinants of serum sex steroids and bone health in males

Claes Ohlsson


Institute of Medicine, Gothenburg University, Gothenburg, Sweden.


Osteoporosis in men causes significant morbidity and mortality. Considerable progress has been made in understanding the pathophysiology and management of osteoporosis, though it remains under-diagnosed and under-treated, particularly in men. Osteoporosis is widely considered to be more prevalent in women, even though at least one-third of all osteoporotic fractures occur in men. A major difference between the male and the female skeleton is the larger bone dimensions in the males and an important determinant of this sexual dimorphism of the skeleton is the differential sex steroid exposure during lifetime in males and females.

Studies in twins indicate that there is a strong heritability of serum sex steroids as well of computed tomography (CT)-analyzed bone parameters such as cortical bone dimensions and volumetric (v) BMDs. The present lecture will summarize recent genome-wide association studies (GWAS) aiming to characterize the genetic determinants of serum sex steroids and bone health in men.

A large scale testosterone GWAS identified a polymorphism near FAM9B on the X chromosome that was strongly associated with serum testosterone concentrations. Interestingly, this testosterone-associated locus was also strongly associated with BMD in men but not women.

Recent large-scale GWAS of CT-analyzed bone parameters demonstrated that the genetic variants associated with cortical bone dimensions as well as of cortical and trabecular vBMDs differed, underscoring the complexity of the genetics of bone parameters. Cortical bone thickness was mainly associated with a genetic variant in the WNT16 locus. The cortical vBMD and cortical porosity were mainly associated with a genetic variant in the RANKL locus while the trabecular vBMD was associated with a genetic variant in the FMN2/GREM2 locus. The effect sizes for some of the identified genetic variants differed significantly between men and women, demonstrating that the genetic determinants of male and female bone health, at least partly, differ.

Volume 1

European Calcified Tissue Society Congress 2013

Lisbon, Portugal
18 May 2013 - 22 May 2013

European Calcified Tissue Society 

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