Table 1

List of the most prominent genes associated with osteoporosis phenotypes confirmed by multiple study designs

Gene

Signaling pathway

Study design

References

LRP5

Wnt/β-catenin

Human family linkage, GWAS, CGS, mouse genetics

[25-27,70,77,107-109]

SOST

Wnt/β-catenin

Human family linkage, GWAS

[43,44,46,75]

sFRP4

Wnt/β-catenin

GWAS, CGS, mouse genomics and genetics

[57,110,111]

ALOX 12/15

Arachidonic acid metabolism

Mouse genomics and genetics, GWAS, CGS

[52-54]

BMP2

Bone morphogenetic protein signaling

GWAS, CGS, mouse genomics and genetics

[33,112,113]

VDR

Transcriptional regulation

CGS, GWAS

[5,32,107]

ESR1/ESR2

Transcriptional regulation

CGS, GWAS

[4,72,107]

STAT1

Transcriptional regulation

GEP, CGS, mouse genetics

[73,74]

Col1A1

Extracellular matrix

CGS, GWAS

[3,32]

CGS, candidate gene study; GEP, gene expression profiling; GWAS, genome-wide association study. For additional references see article and reviews cited therein.

Johnson et al. Genome Med 2009 1:84   doi:10.1186/gm84