Jump to ContentJump to Main Navigation
Human Genome Epidemiology, 2nd EditionBuilding the evidence for using genetic information to improve health and prevent disease$
Users without a subscription are not able to see the full content.

Muin Khoury, Sara Bedrosian, Marta Gwinn, Julian Higgins, John Ioannidis, and Julian Little

Print publication date: 2009

Print ISBN-13: 9780195398441

Published to Oxford Scholarship Online: May 2010

DOI: 10.1093/acprof:oso/9780195398441.001.0001

Show Summary Details
Page of

PRINTED FROM OXFORD SCHOLARSHIP ONLINE (www.oxfordscholarship.com). (c) Copyright Oxford University Press, 2019. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a monograph in OSO for personal use (for details see www.oxfordscholarship.com/page/privacy-policy).date: 20 July 2019

Osteoporosis

Osteoporosis

Chapter:
(p.337) 17 Osteoporosis
Source:
Human Genome Epidemiology, 2nd Edition
Author(s):

André G. Uitterlinden

Joyce B. J. van Meurs

Fernando Rivadeneira

Publisher:
Oxford University Press
DOI:10.1093/acprof:oso/9780195398441.003.0017

This chapter discusses gene-disease associations in osteoporosis. Osteoporosis is — together with osteoarthritis — the most common locomotor disease, and its clinical sequela, including fractures, cause substantial disease burden and costs. It has strong genetic influences, and identification of the underlying DNA variants can help in understanding the disease process and might benefit the development of interventions and diagnostics. The GENOMOS and GEFOS consortia have been established, using large collections of DNA samples from subjects with osteoporosis phenotypes that use standardized methodology and definitions. These collaborative consortia have identified — and refuted — associations of well-known candidate genes, and also play an important role in validation of risk alleles from genome-wide association studies (GWAS) for osteoporosis. Together with studies on rare variants, the GWA approach, in combination with the GENOMOS/GEFOS consortia, will help in clarifying the genetic architecture of complex bone traits such as bone mineral density (BMD), and — eventually — in understanding the genetics of fracture risk, the clinically more relevant but biologically more challenging endpoint in osteoporosis.

Keywords:   genetic variants, genetic variations, human disease, genome-wide studies, osteoporosis, GENOMOS, GEFOS

Oxford Scholarship Online requires a subscription or purchase to access the full text of books within the service. Public users can however freely search the site and view the abstracts and keywords for each book and chapter.

Please, subscribe or login to access full text content.

If you think you should have access to this title, please contact your librarian.

To troubleshoot, please check our FAQs , and if you can't find the answer there, please contact us .