How genomics has informed our understanding of the pathogenesis of osteoporosis

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.

ISSN: 1756-994X