Commentary | Published:

Statistical false positive or true disease pathway?

Nature Genetics 38, 731–733 (2006) | Download Citation

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Three very recent reports provide convincing statistical evidence (P < 10−8), at a genome-wide level, of the association of common polymorphisms with three different common diseases: systemic lupus erythematosus (IRF5), prostate cancer and type 1 diabetes (IFIH1 region). This adds to the trickle—soon to be a flood—of disease association results that are highly unlikely to be false positives. There are other convincing examples in the last 12 months: age-related macular degeneration (CFH), type 1 diabetes (IL2RA, also known as CD25) and type 2 diabetes (TCF7L2). Given 20 years of a literature full of irreproducible results, what has changed?

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Acknowledgements

Work in the author's laboratory is funded by the Wellcome Trust and the Juvenile Diabetes Research Foundation International. The author thanks D. Rubinsztein for helpful comments on an earlier draft of the manuscript.

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  1. John A. Todd is in the University of Cambridge, Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, Wellcome Trust/Medical Research Council Building, Addenbrooke's Hospital Cambridge, Cambridgeshire CB2 2XY, UK. john.todd@cimr.cam.ac.uk

    • John A Todd

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https://doi.org/10.1038/ng0706-731

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