Document Detail


Follow-up study of susceptibility loci for Alzheimer's disease and onset age identified by genome-wide association.
MedLine Citation:
PMID:  20308783     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Replication of genetic association findings in independent studies represents an important validation tool in the search for susceptibility genes for complex diseases such as Alzheimer's disease (AD). In a well-characterized memory-clinic based study comprising 1078 unrelated AD patients and 652 control individuals, we set out to replicate previously reported genome-wide association of four novel risk SNPs with AD and onset age, with first stage p-values ranging from 0.001 to 0.000004. We obtained evidence for association between rs179943, an intronic SNP in ATXN1 at 6p22.3, and affection status (OR = 0.63 (95% CI = 0.44-0.90; nominal p = 0.01)). Overall, our data provided independent support for association of at least one chromosomal locus with AD and warranted a more in-depth investigation of these regions for possible underlying functional variants.
Authors:
Karolien Bettens; Nathalie Brouwers; Helen Van Miegroet; Ana Gil; Sebastiaan Engelborghs; Peter P De Deyn; Rik Vandenberghe; Christine Van Broeckhoven; Kristel Sleegers
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of Alzheimer's disease : JAD     Volume:  19     ISSN:  1875-8908     ISO Abbreviation:  J. Alzheimers Dis.     Publication Date:  2010  
Date Detail:
Created Date:  2010-03-23     Completed Date:  2010-07-22     Revised Date:  2010-10-22    
Medline Journal Info:
Nlm Unique ID:  9814863     Medline TA:  J Alzheimers Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  1169-75     Citation Subset:  IM    
Affiliation:
Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium.
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MeSH Terms
Descriptor/Qualifier:
Age of Onset
Aged
Alzheimer Disease / genetics*
Chromosomes, Human, Pair 6 / genetics
DNA Replication / genetics
Dementia, Vascular / genetics
Female
Follow-Up Studies
Genetic Loci / genetics*
Genetic Predisposition to Disease
Genome-Wide Association Study / methods*
Genotype
Humans
Introns
Male
Middle Aged
Neurodegenerative Diseases / genetics
Polymerase Chain Reaction
Polymorphism, Single Nucleotide / genetics
Prospective Studies

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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