Replicability and robustness of genome-wide-association studies for behavioral traits

Rietveld, Cornelius A., Conley, Dalton, Eriksson, Nicholas, Esko, Tonu, Medland, Sarah E., Vinkhuyzen, Anna A. E., Yang, Jian, Boardman, Jason D., Chabris, Christopher F., Dawes, Christopher T., Domingue, Benjamin W., Hinds, David A., Johannesson, Magnus, Kiefer, Amy K., Laibson, David, Magnusson, Patrik K. E., Mountain, Joanna L., Oskarsson, Sven, Rostapshova, Olga, Teumer, Alexander, Tung, Joyce Y., Visscher, Peter M., Benjamin, Daniel J., Cesarini, David and Koellinger, Philipp D. (2014) Replicability and robustness of genome-wide-association studies for behavioral traits. Psychological Science, 25 11: 1975-1986. doi:10.1177/0956797614545132

Author Rietveld, Cornelius A.
Conley, Dalton
Eriksson, Nicholas
Esko, Tonu
Medland, Sarah E.
Vinkhuyzen, Anna A. E.
Yang, Jian
Boardman, Jason D.
Chabris, Christopher F.
Dawes, Christopher T.
Domingue, Benjamin W.
Hinds, David A.
Johannesson, Magnus
Kiefer, Amy K.
Laibson, David
Magnusson, Patrik K. E.
Mountain, Joanna L.
Oskarsson, Sven
Rostapshova, Olga
Teumer, Alexander
Tung, Joyce Y.
Visscher, Peter M.
Benjamin, Daniel J.
Cesarini, David
Koellinger, Philipp D.
Title Replicability and robustness of genome-wide-association studies for behavioral traits
Journal name Psychological Science   Check publisher's open access policy
ISSN 1467-9280
Publication date 2014-11-20
Year available 2014
Sub-type Article (original research)
DOI 10.1177/0956797614545132
Volume 25
Issue 11
Start page 1975
End page 1986
Total pages 12
Place of publication Thousand Oaks, CA, United States
Publisher Sage Publications
Language eng
Formatted abstract
A recent genome-wide-association study of educational attainment identified three single-nucleotide polymorphisms (SNPs) whose associations, despite their small effect sizes (each R2 ≈ 0.02%), reached genome-wide significance (p < 5 × 10−8) in a large discovery sample and were replicated in an independent sample (p < .05). The study also reported associations between educational attainment and indices of SNPs called “polygenic scores.” In three studies, we evaluated the robustness of these findings. Study 1 showed that the associations with all three SNPs were replicated in another large (N = 34,428) independent sample. We also found that the scores remained predictive (R2 ≈ 2%) in regressions with stringent controls for stratification (Study 2) and in new within-family analyses (Study 3). Our results show that large and therefore well-powered genome-wide-association studies can identify replicable genetic associations with behavioral traits. The small effect sizes of individual SNPs are likely to be a major contributing factor explaining the striking contrast between our results and the disappointing replication record of most candidate-gene studies.
Keyword Behavior genetics
Educational attainment
Genome-wide association study
Individual differences
Population stratification
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Queensland Brain Institute Publications
Official 2015 Collection
UQ Diamantina Institute Publications
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Citation counts: TR Web of Science Citation Count  Cited 25 times in Thomson Reuters Web of Science Article | Citations
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