Document Detail

Identification of a common variant affecting human episodic memory performance using a pooled genome-wide association approach: a case study of disease gene identification.
MedLine Citation:
PMID:  21204039     Owner:  NLM     Status:  MEDLINE    
Genome-wide association studies (GWAS) are an important tool for discovering novel genes associated with disease or traits. Careful design of case-control groups greatly facilitates the efficacy of these studies. Here we describe a pooled GWAS study undertaken to find novel genes associated with human episodic memory performance. A genomic locus for the WW and C2 domain-containing 1 protein, KIBRA (also known as WWC1), was found to be associated with memory performance in three cognitively normal cohorts from Switzerland and the USA. This result was further supported by correlation of KIBRA genotype and differences in hippocampal activation as measured by functional magnetic resonance imaging (fMRI). These findings provide an excellent example of the application of GWAS using a pooled genomic DNA approach to successfully identify a locus with strong effects on human memory.
Traci L Pawlowski; Matthew J Huentelman
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Methods in molecular biology (Clifton, N.J.)     Volume:  700     ISSN:  1940-6029     ISO Abbreviation:  Methods Mol. Biol.     Publication Date:  2011  
Date Detail:
Created Date:  2011-01-04     Completed Date:  2011-04-28     Revised Date:  2013-08-12    
Medline Journal Info:
Nlm Unique ID:  9214969     Medline TA:  Methods Mol Biol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  261-9     Citation Subset:  IM    
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.
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MeSH Terms
Alzheimer Disease / genetics
Brain / metabolism
Cohort Studies
Genetic Predisposition to Disease / genetics*
Genome-Wide Association Study / methods*
Intracellular Signaling Peptides and Proteins
Memory Disorders / genetics*
Mental Recall*
Polymorphism, Single Nucleotide / genetics
Proteins / genetics,  metabolism
Grant Support
Reg. No./Substance:
0/Intracellular Signaling Peptides and Proteins; 0/Phosphoproteins; 0/Proteins; 0/WWC1 protein, human

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