Format

Send to

Choose Destination
See comment in PubMed Commons below
Biol Psychiatry. 2007 May 15;61(10):1121-6. Epub 2007 Mar 8.

Spurious genetic associations.

Author information

1
Department of Genetics, University of North Carolina, Chapel Hill, North Carolina 27599-7264, USA. pfsulliv@med.unc.edu

Abstract

BACKGROUND:

Genetic association studies are widely used in biomedical research and yet only a minority of positive findings stand the test of replication. I explored the capacity of association studies to produce false positive findings and the impact of various definitions of replication.

METHODS:

Genetically realistic simulation data of a typical genotyping/analytic approach for 10 single nucleotide polymorphisms (SNPs) in COMT, a commonly studied candidate gene.

RESULTS:

Candidate gene studies like those simulated here are highly likely to produce one or more false positive findings at alpha < or = .05, the pattern of findings can often be "compelling" or "intriguing," and false positive findings propagate and confuse the literature unless the definition of replication is precise.

CONCLUSIONS:

Findings from single association studies constitute "tentative knowledge" and must be interpreted with exceptional caution. For the association method to function as intended, every statistical comparison must be tracked and reported, and integrated replication is essential. Precise replication (the same SNPs, phenotype, and direction of association) is required in the interpretation of multiple association studies.

PMID:
17346679
DOI:
10.1016/j.biopsych.2006.11.010
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center