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Replicating genotype–phenotype associations

Nature volume 447, pages 655–660 (2007)Cite this article

What constitutes replication of a genotype–phenotype association, and how best can it be achieved?

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Figure 1: Linkage disequilbrium across the region containing SNPs associated with breast cancer in FGFR2.

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Author information

Authors and Affiliations

  1. Division of Cancer Epidemiology and Genetics, Bethesda, 20892-4605, Maryland, USA

    Stephen J. Chanock, Gilles Thomas, Joseph F. Fraumeni Jr, Robert Hoover, Margaret A. Tucker & Sholom Wacholder

  2. Center for Cancer Research, National Cancer Institute, Bethesda, 20892-4605, Maryland, USA

    Stephen J. Chanock

  3. National Human Genome Research Institute, National Institutes of Health, 31 Center Drive, Bethesda, Maryland 20892-2154, USA.,

    Teri Manolio, Joan E. Bailey-Wilson, Lisa D. Brooks, Alan E. Guttmacher, Mark S. Guyer, Emily L. Harris, Jerry Roberts & Francis S. Collins

  4. Department of Biostatistics, University of Michigan, 1420 Washington Heights, Ann Arbor, Michigan, 48109-2029, USA

    Michael Boehnke & Goncalo Abecasis

  5. Human Genetics Center, University of Texas Health Science Center, 1200 Herman Pressler, Houston, 77030, Texas, USA

    Eric Boerwinkle

  6. Program in Molecular and Genetic Epidemiology, Harvard School of Public Health, Channing Laboratory, 181 Longwood Avenue, Boston, 02115, Massachusetts, USA

    David J. Hunter

  7. Children's Hospital Boston, Harvard Medical School, Broad Institute of MIT and Harvard, Seven Cambridge Center, Cambridge, 02114, Massachusetts, USA

    Joel N. Hirschhorn

  8. Massachusetts General Hospital, Broad Institute of MIT and Harvard, 185 Cambridge Street, Cambridge, 02114, Massachusetts, USA

    David Altshuler & Mark Daly

  9. Human Biology Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North, P.O. Box 19024, Seattle, Washington 98109-1024, USA.,

    Lon R. Cardon

  10. University of Oxford, 1 South Parks Road, Oxford, OX1 3TG, UK

    Peter Donnelly

  11. Center for Neurobehavioral Genetics, University of California, Los Angeles, 695 Charles E Young Drive South, Box 708822, Los Angeles, California 90095-7088, USA.,

    Nelson B. Freimer

  12. Office of Cancer Genomics, National Cancer Institute, National Institutes of Health, 31 Center Drive, Bethesda, 20892-2580, Maryland, USA

    Daniela S. Gerhard

  13. Nature, Ninth Floor, 75 Varick Street, New York, New York 10013, USA.,

    Chris Gunter

  14. Epidemiology and Public Health, Yale University School of Medicine, 60 College Street, P.O. Box 208034, New Haven, Connecticut 06510, USA.,

    Josephine Hoh

  15. DeCode Genetics, 8 IS-101 Sturlugata, Reykjavik, Iceland

    C. Augustine Kong

  16. National Institutes of Mental Health, National Institutes of Health, 35 Convent Drive, Bethesda, 20892-3720, Maryland, USA

    Kathleen R. Merikangas

  17. Brigham and Women's Hospital, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, 02115, Massachusetts, USA

    Cynthia C. Morton

  18. Western Australian Institute for Medical Research and University of Western Australia, Queen Elizabeth II Medical Centre, Hospital Avenue, Nedlands, WA6009, Australia

    Lyle J. Palmer

  19. New England Journal of Medicine, 10 Shattuck Street, Boston, 02115-6094, Massachusetts, USA

    Elizabeth G. Phimister

  20. Washington University School of Medicine, Box 8134, 660 South Euclid Avenue, St Louis, Missouri 63110, USA.,

    John P. Rice

  21. Genetic Epidemiology Unit, Howard University, National Human Genome Center, 2041 Georgia Avenue, DC 20060, NW Washington, USA

    Charles Rotimi

  22. Nature Genetics, Suite 104, 25 First Street, Cambridge, Massachusetts 02141, USA.,

    Kyle J. Vogan

  23. Division of Medical Genetics and Department of Biostatistics, University of Washington, Box 357720, Seattle, Washington 98195-7720, USA.,

    Ellen M. Wijsman

  24. Epidemiology and Genetics Research Program, National Cancer Institute, National Institutes of Health, 6130 Executive Boulevard, Bethesda, 20892-7393, Maryland, USA

    Deborah M. Winn

Consortia

NCI-NHGRI Working Group on Replication in Association Studies

  • Stephen J. Chanock
  • , Teri Manolio
  • , Michael Boehnke
  • , Eric Boerwinkle
  • , David J. Hunter
  • , Gilles Thomas
  • , Joel N. Hirschhorn
  • , Goncalo Abecasis
  • , David Altshuler
  • , Joan E. Bailey-Wilson
  • , Lisa D. Brooks
  • , Lon R. Cardon
  • , Mark Daly
  • , Peter Donnelly
  • , Joseph F. Fraumeni Jr
  • , Nelson B. Freimer
  • , Daniela S. Gerhard
  • , Chris Gunter
  • , Alan E. Guttmacher
  • , Mark S. Guyer
  • , Emily L. Harris
  • , Josephine Hoh
  • , Robert Hoover
  • , C. Augustine Kong
  • , Kathleen R. Merikangas
  • , Cynthia C. Morton
  • , Lyle J. Palmer
  • , Elizabeth G. Phimister
  • , John P. Rice
  • , Jerry Roberts
  • , Charles Rotimi
  • , Margaret A. Tucker
  • , Kyle J. Vogan
  • , Sholom Wacholder
  • , Ellen M. Wijsman
  • , Deborah M. Winn
  •  & Francis S. Collins

Corresponding authors

Correspondence to Stephen J. Chanock or Teri Manolio.

Additional information

Note added in proof: Recently, a series of papers have also shown replication across as well as within genome-wide association studies in common complex diseases such as breast cancer, type 2 diabetes, and coronary disease73,74,76,77,78,79,80,81. Author Contributions S.J.C. and T.M. contributed equally to this manuscript.

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NCI-NHGRI Working Group on Replication in Association Studies. Replicating genotype–phenotype associations. Nature 447, 655–660 (2007). https://doi.org/10.1038/447655a

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