Journal Facts

Journal
BoneKEy Reports
ISSN
2047-6396
Volume
2
Year
2013

Article Facts

Title
Genetic basis of osteoporosis; looking for trabecular and cortical BMD variants
DOI
10.1038/bonekey.2013.93
Author
Online Date
05/29/2013

Article Links

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Genetic basis of osteoporosis; looking for trabecular and cortical BMD variants


DOI:10.1038/bonekey.2013.93

Separating out the genetic determinants associated with osteoporosis that are connected specifically with either cortical volumetric bone mineral density (vBMD) or trabecular vBMD rather than areal BMD has proved difficult. In this study, Paternoster and colleagues used peripheral quantitative computed tomography to identify these genetic determinants individually, performing separate genome wide association (GWA) meta-analyses.

The GWA meta-analysis of cortical vBMD and trabecular vBMD were done in relatively modest samples (cortical vBMD n=5878; trabecular vBMD n=2,500) and then each was replicated in a different sample (cortical vBMD n=1052; trabecular vBMD n=1022). The cortical vBMD analysis revealed variants in four genes that achieved genome-wide significance; RANKL, LOC285735, osteoprotegerin and ESR1/C6orf97. The trabecular vBMD study found only one, in FMN2/GREM2; this was associated with an increase in fracture risk in a Swedish cohort.

FMN2/GREM2 and LOC285735 have not been previously identified as bone-related loci but the three others have been reported to be associated with areal BMD by other studies.

Editor’s comment: The finding that genetic variants associated with trabecular and cortical bone parameters were different is not surprising given that the correlation between trabecular and cortical vBMD is rather low. Genetic variation in the FMN2/GREM2 locus seems also to influence fracture risk via effects on both trabecular number and thickness.

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