Genetic determinants of bone density and fracture risk: State of the art and future directions

Duncan, Emma L. & Brown, Matthew A. (2010) Genetic determinants of bone density and fracture risk: State of the art and future directions. Journal of Clinical Endocrinology and Metabolism, 95(6), pp. 2576-2587.

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Abstract

Context: Osteoporosis is a common, highly heritable condition that causes substantial morbidity and mortality, the etiopathogenesis of which is poorly understood. Genetic studies are making increasingly rapid progress in identifying the genes involved.

Evidence Acquisition and Synthesis: In this review, we will summarize the current understanding of the genetics of osteoporosis based on publications from PubMed from the year 1987 onward.

Conclusions: Most genes involved in osteoporosis identified to date encode components of known pathways involved in bone synthesis or resorption, but as the field progresses, new pathways are being identified. Only a small proportion of the total genetic variation involved in osteoporosis has been identified, and new approaches will be required to identify most of the remaining genes.

Impact and interest:

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18 citations in Web of Science®

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ID Code: 89391
Item Type: Journal Article
Refereed: Yes
Keywords: ADAMTS1 protein, bone morphogenetic protein 2, catenin, corticotropin releasing factor receptor 1, cyclic AMP dependent protein kinase anchoring protein, estrogen receptor alpha, histone deacetylase 5, Jagged1, low density lipoprotein receptor related protein 5, matrix extracellular phosphoglycoprotein, microtubule associated protein, microtubule associated protein 2, microtubule associated protein 4, myocyte enhancer factor 2, osteoclast differentiation factor, osteopontin, osteoprotegerin, sclerostin, spectrin, transcription factor FOXC2, transcription factor Sox6, ADAMTS 18 gene, ARHGAP 1 gene, bmp 2 gene, body height, bone density, CRHR 1 gene, CTNNB 1 gene, DCDC 5 gene, epistasis, esr 1 gene, FAM 3C gene, FLJ 42280 gene, FOXL 1 gene, fragility fracture, gene, genetic association, genetic epidemiology, genetic linkage, genetic risk, genotype environment interaction, GPR 177 gene, HDAC 5 gene, heritability, human, JAG 1 gene, loss of function mutation, LRP 5 gene, MARK 3 gene, MEF 2C gene, MEPE gene, nonhuman, opg gene, osteoporosis, pathogenesis, phenotype, priority journal, protein function, Rank gene, rankl gene, review, single nucleotide polymorphism, SOST gene, SOX 6 gene, SP 7 gene, SPTBN 1 gene, STARD 3NL gene, ZBTB 40 gene, female, fracture, gene frequency, genetics, male, risk, Fractures, Bone, Genome-Wide Association Study, Humans, Linkage (Genetics)
DOI: 10.1210/jc.2009-2406
ISSN: 0021-972X
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2010 The Endocrine Society
Deposited On: 21 Oct 2015 23:50
Last Modified: 31 Mar 2016 22:03

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