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Table 1 List of the most prominent genes associated with osteoporosis phenotypes confirmed by multiple study designs

From: How genomics has informed our understanding of the pathogenesis of osteoporosis

Gene Signaling pathway Study design References
LRP5 Wnt/β-catenin Human family linkage, GWAS, CGS, mouse genetics [2527, 70, 77, 107109]
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 [5254]
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]
  1. CGS, candidate gene study; GEP, gene expression profiling; GWAS, genome-wide association study. For additional references see article and reviews cited therein.