Common genetic variants associated with cognitive performance identified using the proxy-phenotype method

Rietveld, Cornelius A., Esko, Tonu, Davies, Gail, Pers, Tune H., Turley, Patrick, Benyamin, Beben, Chabris, Christopher F., Emilsson, Valur, Johnson, Andrew D., Lee, James J., De Leeuw, Christiaan, Marioni, Riccardo E., Medland, Sarah E., Miller, Michael B., Rostapshova, Olga, Van Der Lee, Sven J., Vinkhuyzen, Anna A. E., Amin, Najaf, Conley, Dalton, Derringer, Jaime, Van Duijn, Cornelia M., Fehrmann, Rudolf, Franke, Lude, Glaeser, Edward L., Hansell, Narelle K., Hayward, Caroline, Iacono, William G., Ibrahim-Verbaas, Carla, Jaddoe, Vincent, Karjalainen, Juha, Laibson, David, Lichtenstein, Paul, Liewald, David C., Magnusson, Patrik K. E., Martin, Nicholas G., McGue, Matt, McMahon, George, Pedersen, Nancy L., Pinker, Steven, Porteous, David J., Posthuma, Danielle, Rivadeneira, Fernando, Smithk, Blair H., Starr, John M., Tiemeier, Henning, Timpsonm, Nicholas J., Trzaskowskin, Maciej, Uitterlinden, Andre G., Verhulst, Frank C., Ward, Mary E., Wright, Margaret J., Smith, George Davey, Deary, Ian J., Johannesson, Magnus, Plomin, Robert, Visscher, Peter M., Benjamin, Daniel J., Cesarini, David and Koellinger, Philipp D. (2014) Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. Proceedings of the National Academy of Sciences of the United States of America, 111 38: 13790-13794. doi:10.1073/pnas.1404623111

Author Rietveld, Cornelius A.
Esko, Tonu
Davies, Gail
Pers, Tune H.
Turley, Patrick
Benyamin, Beben
Chabris, Christopher F.
Emilsson, Valur
Johnson, Andrew D.
Lee, James J.
De Leeuw, Christiaan
Marioni, Riccardo E.
Medland, Sarah E.
Miller, Michael B.
Rostapshova, Olga
Van Der Lee, Sven J.
Vinkhuyzen, Anna A. E.
Amin, Najaf
Conley, Dalton
Derringer, Jaime
Van Duijn, Cornelia M.
Fehrmann, Rudolf
Franke, Lude
Glaeser, Edward L.
Hansell, Narelle K.
Hayward, Caroline
Iacono, William G.
Ibrahim-Verbaas, Carla
Jaddoe, Vincent
Karjalainen, Juha
Laibson, David
Lichtenstein, Paul
Liewald, David C.
Magnusson, Patrik K. E.
Martin, Nicholas G.
McGue, Matt
McMahon, George
Pedersen, Nancy L.
Pinker, Steven
Porteous, David J.
Posthuma, Danielle
Rivadeneira, Fernando
Smithk, Blair H.
Starr, John M.
Tiemeier, Henning
Timpsonm, Nicholas J.
Trzaskowskin, Maciej
Uitterlinden, Andre G.
Verhulst, Frank C.
Ward, Mary E.
Wright, Margaret J.
Smith, George Davey
Deary, Ian J.
Johannesson, Magnus
Plomin, Robert
Visscher, Peter M.
Benjamin, Daniel J.
Cesarini, David
Koellinger, Philipp D.
Title Common genetic variants associated with cognitive performance identified using the proxy-phenotype method
Journal name Proceedings of the National Academy of Sciences of the United States of America   Check publisher's open access policy
ISSN 0027-8424
Publication date 2014-09-23
Year available 2014
Sub-type Article (original research)
DOI 10.1073/pnas.1404623111
Open Access Status
Volume 111
Issue 38
Start page 13790
End page 13794
Total pages 5
Place of publication Washington, DC United States
Publisher National Academy of Sciences
Collection year 2015
Language eng
Formatted abstract
We identify common genetic variants associated with cognitive performance using a two-stage approach, which we call the proxy-phenotype method. First, we conduct a genome-wide association study of educational attainment in a large sample (n = 106,736), which produces a set of 69 education-associated SNPs. Second, using independent samples (n = 24,189), we measure the association of these education-associated SNPs with cognitive performance. Three SNPs (rs1487441, rs7923609, and rs2721173) are significantly associated with cognitive performance after correction for multiple hypothesis testing. In an independent sample of older Americans (n = 8,652), we also show that a polygenic score derived from the education-associated SNPs is associated with memory and absence of dementia. Convergent evidence from a set of bioinformatics analyses implicates four specific genes (KNCMA1, NRXN1, POU2F3, and SCRT). All of these genes are associated with a particular neurotransmitter pathway involved in synaptic plasticity, the main cellular mechanism for learning and memory
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 33 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 38 times in Scopus Article | Citations
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