The genetic landscape of diseases associated with changes in bone mineral density (BMD), such as osteoporosis, is only partially understood. Here, we explored data from 3,823 mutant mouse strains for BMD, a measure that is frequently altered in a range of bone pathologies, including osteoporosis. A total of 200 genes were found to significantly affect BMD. This pool of BMD genes comprised 141 genes with previously unknown functions in bone biology and was complementary to pools derived from recent human studies. Nineteen of the 141 genes also caused skeletal abnormalities. Examination of the BMD genes in osteoclasts and osteoblasts underscored BMD pathways, including vesicle transport, in these cells and together with in silico bone turnover studies resulted in the prioritization of candidate genes for further investigation. Overall, the results add novel pathophysiological and molecular insight into bone health and disease.

• MeSH
• celogenomová asociační studie MeSH
• fenotyp MeSH
• genetická pleiotropie MeSH
• genotyp MeSH
• genová ontologie MeSH
• kostní denzita genetika   MeSH
• mapy interakcí proteinů MeSH
• mutace MeSH
• myši transgenní MeSH
• myši MeSH
• osteoblasty metabolismus   patologie   MeSH
• osteoklasty metabolismus   patologie   MeSH
• osteoporóza genetika   metabolismus   MeSH
• pohlavní dimorfismus MeSH
• promotorové oblasti (genetika) MeSH
• regulace genové exprese genetika   MeSH
• transkriptom MeSH
• zvířata MeSH
• Check Tag
• mužské pohlaví MeSH
• myši MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Research Support, N.I.H., Extramural MeSH

• Konspekt
• Hygiena. Lidské zdraví
• NLK Obory
• zdravotní výchova