Please use this identifier to cite or link to this item: https://doi.org/10.1111/j.1469-1809.2012.00733.x
Title: Impact on Modes of Inheritance and Relative Risks of Using Extreme Sampling When Designing Genetic Association Studies
Authors: Zheng, G.
Jinfeng, X. 
Yuan, A.
Colin, O.W.
Keywords: Association studies
Extreme sampling
Genetic models
Genotype relative risks
Replication
Issue Date: Jan-2013
Citation: Zheng, G., Jinfeng, X., Yuan, A., Colin, O.W. (2013-01). Impact on Modes of Inheritance and Relative Risks of Using Extreme Sampling When Designing Genetic Association Studies. Annals of Human Genetics 77 (1) : 80-84. ScholarBank@NUS Repository. https://doi.org/10.1111/j.1469-1809.2012.00733.x
Abstract: Using extreme phenotypes for association studies can improve statistical power. We study the impact of using samples with extremely high or low traits on the alternative model space, the genotype relative risks, and the genetic models in association studies. We prove the following results: when the risk allele causes high-trait values, the more extreme the high traits, the larger the genotype relative risks, which is not always true for using extreme low traits; we also prove that a genetic model theoretically changes with more extreme trait except for the recessive or dominant models. Practically, however, the impact of deviations from the true genetic model at a functional locus due to selective sampling is virtually negligible. The implications of our findings are discussed. Numerical values are reported for illustrations. © 2012 Blackwell Publishing Ltd/University College London.
Source Title: Annals of Human Genetics
URI: http://scholarbank.nus.edu.sg/handle/10635/105174
ISSN: 00034800
DOI: 10.1111/j.1469-1809.2012.00733.x
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