Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Comment
. 2010 Jun;26(6):241-2; author reply 242-3.
doi: 10.1016/j.tig.2010.03.003. Epub 2010 Apr 22.

Detecting genes in complex disease: does phenotype accuracy limit the horizon?

Koon Lee, Stephen Sawcer
Comment

Detecting genes in complex disease: does phenotype accuracy limit the horizon?

Koon Lee et al. Trends Genet. 2010 Jun.
No abstract available

PubMed Disclaimer

Figures

Figure 1
Figure 1
Power to detect a genetic association in the context of diagnostic errors. In each example, the probability of affected individuals being classified as controls is 1 × 10−5. Varying this parameter has negligible impact on power and/or optimal sample size for diseases that are present in less than 10% of the population. (a) Power to detect an association between a common allele (allele frequency = 0.5; GRR = 1.1– 1.3 under a multiplicative model) and disease in 20000 cases and 20000 controls with varying degrees of diagnostic error at P < 5 × 10−7. Disease frequency = 0.01. (b) Power to detect an association between alleles of different frequency (0.5, 0.25, 0.1) and disease in 20000 cases and 20000 controls with varying degrees of diagnostic error at P < 5 × 10−7. GRR = 1.3, disease frequency = 0.01. (c) Power to detect an association between an allele (frequency = 0.125, GRR = 1.3) and diseases of different prevalence (0.01, 0.001, 0.0001) in 20000 cases and 20000 controls with varying degrees of diagnostic error at P < 5 × 10−7. (d) Ratio of the number of inaccurately phenotyped cases (nerror) to the number of accurately phenotyped cases (nno error) required to detect an association between an allele (frequency = 0.1, varying GRR from 1.1 to 1.3) and a disease (frequency = 0.01) with 95% power at varying degrees of diagnostic error at P < 5 × 10−7. All calculations used PAWE-PH Phenotype Edition [2].
See this image and copyright information in PMC

Comment on

References

    1. Samuels D, Burn D, Chinnery P. Detecting new neurodegenerative disease genes: does phenotype accuracy limit the horizon? Trends in Genetics. 2009;Vol.25:486–488. - PMC - PubMed
    1. Edwards BJ, et al. Power and sample size calculations in the presence of phenotype errors for case/control genetic association studies. BMC Genet. 2005;6:18. - PMC - PubMed
    1. Sawcer S. The complex genetics of multiple sclerosis: pitfalls and prospects. Brain. 2008;131:3118–3131. - PMC - PubMed