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Human Molecular Genetics Advance Access published online on April 30, 2007
Human Molecular Genetics, doi:10.1093/hmg/ddm097
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© 2006 The Author(s)
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance

Matthew J. Huentelman1,#, Andreas Papassotiropoulos1,2,6,#, David W. Craig1, Frederic J. Hoerndli2, John V. Pearson1, Kim-Dung Huynh2, Jason Corneveaux1, Jürgen Hänggi2, Christian R.A. Mondadori2, Andreas Buchmann2, Eric M. Reiman1,3,4, Katharina Henke2, Dominique J.-F. de Quervain2,5 and Dietrich A. Stephan1,*

1 Neurogenomics Division, The Translational Genomics Research Institute, 445 N Fifth Street, Phoenix AZ, 85004, USA 2 Division of Psychiatry Research, University of Zurich, Lenggstrasse 31, 8032 Zurich, Switzerland 3 The Banner Alzheimer's Institute, 901 East Willetta Street, Phoenix, AZ, 85006, USA 4 Department of Psychiatry, University of Arizona, 1501 N. Campbell Ave, PO Box 245002, Tucson, AZ, 85724, USA 5 Center for Integrative Human Physiology, University of Zurich, Winterthurerstr 190, 8057 Zurich, Switzerland 6 Division of Molecular Psychology and Biozentrum, University of Basel, 4055 Basel, Switzerland

* Corresponding author: Dietrich A. Stephan, The Translational Genomics Research Institute, Neurogenomics Division, 445 N. Fifth Street, Phoenix, Arizona 85004. 602-343-8727 (Phone); 602-343-8844 (Fax); dstephan{at}tgen.org

Received December 23, 2006; Revised March 15, 2007; Accepted April 11, 2007

Little is known about the genes and proteins involved in the process of human memory. To identify genetic factors related to human episodic memory performance we conducted an ultra high density genome-wide screen at over 500,000 single nucleotide polymorphisms (SNPs) in a sample of normal young adults stratified for performance on an episodic recall memory test. Analysis of this data identified SNPs within the CAMTA1 (calmodulin-binding transcription activator 1) gene that were significantly associated with memory performance. A follow up study, focused on the CAMTA1 locus in an independent cohort consisting of cognitively normal young adults, singled out SNP rs4908449 with a p-value of 0.0002 as the most significant associated SNP in the region. These validated genetic findings were further supported by the identification of CAMTA1 transcript enrichment in memory-related human brain regions; and through a functional magnetic resonance imaging experiment on individuals matched for memory performance that identified CAMTA1 allele-specific upregulation of medial temporal lobe brain activity in those individuals harboring the "at-risk" allele for poorer memory performance. The CAMTA1 locus encodes a purported transcription factor that interfaces with the calcium-calmodulin system of the cell to alter gene expression patterns. Our validated genomic and functional biological findings described herein suggest a role for CAMTA1 in human episodic memory.

# These authors contributed equally to this work


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