Genome-wide association studies

Duncan, Emma L. & Brown, Matthew A. (2013) Genome-wide association studies. In Thakker, Rajesh V., Whyte, Michael P., Eisman, John A., & Igarashi, Takashi (Eds.) Genetics of Bone Biology and Skeletal Disease. Elsevier Inc., Toyko, pp. 93-100.

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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.

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ID Code: 89290
Item Type: Book Chapter
Keywords: Osteoporosis, Bone mineral density, Fracture, Single nucleotide polymorphism, Association, Linkage disequilibrium, Genome-wide association study
DOI: 10.1016/B978-0-12-387829-8.00007-X
ISBN: 9780123878298
Divisions: Current > Schools > School of Biomedical Sciences
Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2013 Elsevier Inc.
Deposited On: 20 Oct 2015 01:51
Last Modified: 21 Mar 2016 00:24

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