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Inconsistent designs of association studies: a missed opportunity

Molecular Psychiatry volume 8, pages 770–772 (2003)Cite this article

SIR – It is widely agreed that genetic association mapping is a powerful tool to detect susceptibility genes for complex disorders, even when each of these genes has a small contribution to risk.1 Given the growing use of association studies in psychiatry, we believe it is imperative to develop and agree upon standards for the way a genetic association study is designed and reported. Here, we propose some standards of general study design, diagnostic assessment, genotyping, and statistical analysis, which we believe will enhance the comparability of future genetic association studies.

Genetic association studies are of growing importance in complex diseases, both as a means of following up genetic linkage signals and of testing candidate gene hypotheses. Association studies have become particularly popular with the advent of dense marker maps, high-throughput genotyping methods, and a host of new statistical methods. This growing popularity has brought with it a growing lack of consistency in study designs and methods, with the inevitable result that ‘the vast majority of association studies are not replicable’.2

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References

  1. Risch N, Merikangas K . Science 1996; 273: 1516–1517.

  2. Hardy J . Am J Med Genet 2002; 114: 253.

  3. Sklar P et al. Mol Psychiatry 2002; 7: 579–593.

  4. Neves-Pereira M et al. Am J Hum Genet 2002; 71: 651–655.

  5. Lander E, Kruglyak L . Nat Genet 1995; 11: 241–247.

  6. Vieland VJ . Nat Genet 2001; 29: 244–245.

  7. Schulze TG et al. Am J Med Genet 2001; 105: 351–353.

  8. Schulze TG et al. Am J Med Genet 2003; 118B: 25–26.

  9. Ioannidis JP et al. Nat Genet 2001; 29: 306–309.

  10. Martin ER et al. Am J Hum Genet 2000; 67: 383–394.

  11. Tishkoff SA et al. Am J Hum Genet 2000; 67: 901–925.

  12. Reich DE et al. Nature 2001; 411: 199–204.

  13. Schulze TG, McMahon FJ . Am J Med Genet 2002; 114: 1–11.

  14. Spielman RS, Ewens WJ . Am J Hum Genet 1996; 59: 983–989.

  15. Gordon D et al. Am J Hum Genet 2001; 69: 371–380.

  16. Devlin B, Roeder K . Biometrics 1999; 55: 997–1004.

  17. Pritchard JK et al. Am J Hum Genet 2000; 67: 170–181.

  18. Horikawa Y et al. Nat Genet 2000; 26: 163–175.

  19. Myers A et al. Am J Med Genet 2002; 114: 235–244.

  20. Newton I . In: Cajori (trans and ed). Philosophiae Naturalis Principia Mathematica (1687). University of California Press: Berkely, CA, 1934.

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Authors and Affiliations

  1. Genetic Basis of Mood and Anxiety Disorders, Mood and Anxiety Disorders Program, National Institute of Mental Health, NIH, Bethesda, MD, USA

    T G Schulze & F J McMahon

  2. Laboratory of Neurogenetics, National Institute of Aging, NIH, Bethesda, MD, USA

    J Hardy

Authors
  1. T G Schulze
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  2. J Hardy
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  3. F J McMahon
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Correspondence to T G Schulze.

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Schulze, T., Hardy, J. & McMahon, F. Inconsistent designs of association studies: a missed opportunity. Mol Psychiatry 8, 770–772 (2003). https://doi.org/10.1038/sj.mp.4001329

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