Genome-wide Association Studies

Duncan, Emma L. and Brown, Matthew A. (2013). Genome-wide Association Studies. In Rajesh V. Thakker, Michael P. Whyte, John A. Eisman and Takashi Igarashi (Ed.), Genetics of Bone Biology and Skeletal Disease (pp. 93-100) London UK: Elsevier Inc.. doi:10.1016/B978-0-12-387829-8.00007-X

Author Duncan, Emma L.
Brown, Matthew A.
Title of chapter Genome-wide Association Studies
Title of book Genetics of Bone Biology and Skeletal Disease
Place of Publication London UK
Publisher Elsevier Inc.
Publication Year 2013
Sub-type Research book chapter (original research)
DOI 10.1016/B978-0-12-387829-8.00007-X
Year available 2012
Series Genetics of Bone Biology and Skeletal Disease
ISBN 978-0-12-387830-4
Editor Rajesh V. Thakker
Michael P. Whyte
John A. Eisman
Takashi Igarashi
Chapter number 7
Start page 93
End page 100
Total pages 8
Total chapters 36
Language eng
Abstract/Summary Genome-wide association studies (GWAS) are a powerful hypothesis-free tool for the dissection of susceptibility to common heritable human diseases, including osteoporosis. To date, more than 2000 loci for common human diseases have been identified by GWAS. Success using the GWAS model depends on genetic risk being determined by shared stretches of DNA carried with different frequencies in cases and controls, inherited from ancient ancestors, termed the “common disease–common variant” hypothesis. Not all disease risk is caused by common variants, however, and thus GWAS will not detect all variants involved. Successful GWAS performance requires careful quality control, especially as the effect sizes under study are modest, and there are multiple potential sources of error. Conservative interpretation, use of stringent significance thresholds, and replication in independent cohorts are required to ensure results are robust. Despite these challenging parameters, much has been learnt from GWAS and, as the approach matures and is modified to identify a wider range of variants, significantly more will be learnt about the etiopathogenesis of common diseases such as osteoporosis.
Keyword Bone-Mineral Density
3,000 Shared Controls
Susceptibility Loci
Disease Susceptibility
Q-Index Code B1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Book Chapter
Collections: Official 2014 Collection
UQ Diamantina Institute Publications
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