The genetics of osteoporosis

Clark, Graeme R and Duncan, Emma L (2015) The genetics of osteoporosis. British Medical Bulletin, 113 1: 73-81. doi:10.1093/bmb/ldu042

Author Clark, Graeme R
Duncan, Emma L
Title The genetics of osteoporosis
Journal name British Medical Bulletin   Check publisher's open access policy
ISSN 1471-8391
Publication date 2015-03-01
Year available 2015
Sub-type Article (original research)
DOI 10.1093/bmb/ldu042
Open Access Status Not Open Access
Volume 113
Issue 1
Start page 73
End page 81
Total pages 9
Place of publication Oxford, United Kingdom
Publisher Oxford University Press
Language eng
Formatted abstract
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.
Keyword Osteoporosis
Gene mapping
Genome-wide association studies
Next-generation sequencing
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2016 Collection
School of Medicine Publications
UQ Diamantina Institute Publications
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Citation counts: TR Web of Science Citation Count  Cited 13 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 11 times in Scopus Article | Citations
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