The genetics of osteoporosis

Clark, Graeme R. & Duncan, Emma L. (2015) The genetics of osteoporosis. British Medical Bulletin, 113(1), pp. 73-81.

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Introduction: Osteoporosis is the commonest metabolic bone disease worldwide. The clinical hallmark of osteoporosis is low trauma fracture, with the most devastating being hip fracture, resulting in significant effects on both morbidity and mortality.

Sources of data: Data for this review have been gathered from the published literature and from a range of web resources.

Areas of agreement: Genome-wide association studies in the field of osteoporosis have led to the identification of a number of loci associated with both bone mineral density and fracture risk and further increased our understanding of disease.

Areas of controversy: The early strategies for mapping osteoporosis disease genes reported only isolated associations, with replication in independent cohorts proving difficult. Neither candidate gene or linkage studies showed association at genome-wide level of significance.

Growing points: The advent of massive parallel sequencing technologies has proved extremely successful in mapping monogenic diseases and thus leading to the utilization of this new technology in complex disease genetics.

Areas timely for developing research: The identification of novel genes and pathways will potentially lead to the identification of novel therapeutic options for patients with osteoporosis. © 2014 The Author.

Impact and interest:

10 citations in Scopus
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11 citations in Web of Science®

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ID Code: 94192
Item Type: Journal Article
Refereed: Yes
Keywords: gene mapping, genetics, genome-wide association studies, next-generation sequencing, Osteoporosis, beta catenin, osteoprotegerin, receptor activator of nuclear factor kappa B, Wnt protein, Article, bone density, gene locus, genetic association, genetic linkage, human, next generation sequencing, ossification, priority journal
DOI: 10.1093/bmb/ldu042
ISSN: 0007-1420
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2015 The Author(s)
Deposited On: 29 Mar 2016 00:12
Last Modified: 29 Mar 2016 21:39

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