Data Release 2012

GEFOS stands for the GEnetic Factors for OSteoporosis Consortium. It is a large international collaboration involving various prominent research groups.Osteoporosis is a common age-related complex disease with a strong genetic component. Osteoporotic fractures account for considerable disease burden and costs. The genes responsible, however, are poorly defined. The GEFOS project used meta-analysis of Genome Wide Association (GWA) studies with high density SNP arrays, to identify common risk gene variants for osteoporosis. Two DXA-derived traits are included in this data release: Femoral Neck BMD (FN-BMD) and Lumbar Spine BMD (LS-BMD). So far, the GEFOS consortium has identified common genetic variants at 56 loci that are associated with BMD and 16 of them with increased risk of fracture. A map of GEFOS and GENOMOS studies can be found here.


This release includes the (sex-stratified) summary data from our 2012 analyses of GWA data. These files include p-values, allele frequencies and effect sizes at over 2 million SNPs.

Data file description

Each file contains the following information for each SNP and its association to the specified trait based on the GEFOS2 meta-analysis. SNPs missing in more than 3 studies were excluded.

The dbSNP name of the genetic marker The first allele (hg18 + strand) The second allele (hg18 + strand) Allele1 frequency Effect size for the allele1 Standard error of the effect size P value after using regression coefficients (beta and standard error), and after correction for inflation of test statistics using genomic control both at the individual study level and again after meta-analysis Direction of the effect of Allele1 (increasing/decreasing BMD from beta coefficient)


Estrada K, Styrkarsdottir U, Evangelou E, Hsu YH, Duncan EL, Ntzani EE, Oei L et al,(2012). Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nat Genet 44, 491-501

A list of collaborators from the GEFOS Consortium for this data release can be found here: GEFOS COLLABORATORS