Recommendations for using standardised phenotypes in genetic association studies

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Recommendations for using standardised phenotypes in genetic association studies

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Title: Recommendations for using standardised phenotypes in genetic association studies
Author: Naylor, Melissa G.; Weiss, Scott Tillman; Lange, Christoph

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Citation: Naylor, Melissa G., Scott Tillman Weiss, Christoph Lange. 2009. Recommendations for using standardised phenotypes in genetic association studies. Human Genomics 3(4): 308-319.
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Abstract: Genetic association studies of complex traits often rely on standardised quantitative phenotypes, such as percentage of predicted forced expiratory volume and body mass index to measure an underlying trait of interest (eg lung function, obesity). These phenotypes are appealing because they provide an easy mechanism for comparing subjects, although such standardisations may not be the best way to control for confounders and other covariates. We recommend adjusting raw or standardised phenotypes within the study population via regression. We illustrate through simulation that optimal power in both population- and family-based association tests is attained by using the residuals from within-study adjustment as the complex trait phenotype. An application of family-based association analysis of forced expiratory volume in one second, and obesity in the Childhood Asthma Management Program data, illustrates that power is maintained or increased when adjusted phenotype residuals are used instead of typical standardised quantitative phenotypes.
Published Version: doi:10.1186/1479-7364-3-4-308
Other Sources: http://www.ncbi.nlm.nih.gov/pubmed/19706362
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:11726284
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