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Parameters for reliable results in genetic association studies in common disease

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Abstract

It is increasingly apparent that the identification of true genetic associations in common multifactorial disease will require studies comprising thousands rather than the hundreds of individuals employed to date. Using 2,873 families, we were unable to confirm a recently published association of the interleukin 12B gene in 422 type I diabetic families. These results emphasize the need for large datasets, small P values and independent replication if results are to be reliable.

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Figure 1: Expression of IL12B mRNA in B lymphoblastoid cell lines according to the IL12B 3′ UTR SNP genotype.

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Acknowledgements

We thank the Juvenile Diabetes Research Foundation, the Wellcome Trust and the National Institutes of Health for support, and the HBDI and Diabetes UK for family collections. J.T. and E.T.-W. were funded by the NIH, the Novo Nordisk Foundation, the Sigrid Juselius Foundation, the Academy of Finland and the Juvenile Diabetes Research Foundation.

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Authors and Affiliations

  1. JDRF/WT Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Wellcome Trust/MRC Building, Hills Road, Cambridge, CB2 2XY, UK

    Ingrid Dahlman, Iain A. Eaves, Helen Stevens, Philippa Carr, Sarah Nutland, William Wang, Heather J. Cordell, Neil Walker & John A. Todd

  2. Molecular Genetics Program, Virginia Mason Research Center, and Department of Immunology, University of Washington School of Medicine, Seattle, Washington, USA

    Roman Kosoy, V. Anne Morrison & Patrick Concannon

  3. Division of Medical Sciences, University of Birmingham, Birmingham Heartlands and Queen Elizabeth Hospitals, Birmingham, B9 5SS, UK

    Joanne Heward, Stephen C.L. Gough, Amit Allahabadia & Jayne A. Franklyn

  4. Diabetes and Genetic Epidemiology Unit, National Public Health Institute, Helsinki, Finland

    Jaakko Tuomilehto & Eva Tuomilehto-Wolf

  5. Department of Public Health, University of Helsinki, Mannerheimintie 172, Helsinki, 00300, Finland

    Jaakko Tuomilehto

  6. Dipartimento di Scienze Biobediche e Biotecnologie, University of Cagliari, Italy

    Francesco Cucca

  7. Clinic of Diabetes, Institute of Diabetes, Nutrition and Metabolic Diseases “N. Paulescu”, Bucharest, Romania

    Cristian Guja & Constantin Ionescu-Tirgoviste

  8. Paediatric Epidemiology Group, Unit of Epidemiology and HSR, Leeds, UK

    Patricia McKinney

  9. Institute of Child Health, University of Bristol, Royal Hospital for Sick Children, Bristol, UK

    Julian P. Shield

Authors
  1. Ingrid Dahlman
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  2. Iain A. Eaves
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  3. Roman Kosoy
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  4. V. Anne Morrison
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  5. Joanne Heward
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  6. Stephen C.L. Gough
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  7. Amit Allahabadia
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  8. Jayne A. Franklyn
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  9. Jaakko Tuomilehto
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  10. Eva Tuomilehto-Wolf
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  11. Francesco Cucca
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  12. Cristian Guja
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  13. Constantin Ionescu-Tirgoviste
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  14. Helen Stevens
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  15. Philippa Carr
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  16. Sarah Nutland
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  17. Patricia McKinney
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  18. Julian P. Shield
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  19. William Wang
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  20. Heather J. Cordell
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  21. Neil Walker
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  22. John A. Todd
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  23. Patrick Concannon
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Corresponding author

Correspondence to John A. Todd.

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Dahlman, I., Eaves, I., Kosoy, R. et al. Parameters for reliable results in genetic association studies in common disease. Nat Genet 30, 149–150 (2002). https://doi.org/10.1038/ng825

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  • DOI: https://doi.org/10.1038/ng825

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