DAPK1 variants are associated with Alzheimer's disease and allele-specific expression

Genetic factors play an important role in the etiology of late-onset Alzheimer's disease (LOAD). We tested gene-centric single nucleotide polymorphisms (SNPs) on chromosome 9 and identified two SNPs in the death-associated protein kinase, DAPK1, that show significant association with LOAD. SNP...

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Veröffentlicht in:	Human molecular genetics 2006-09, Vol.15 (17), p.2560-2568
Hauptverfasser:	Li, Yonghong, Grupe, Andrew, Rowland, Charles, Nowotny, Petra, Kauwe, John S.K., Smemo, Scott, Hinrichs, Anthony, Tacey, Kristina, Toombs, Timothy A., Kwok, Shirley, Catanese, Joseph, White, Thomas J., Maxwell, Taylor J., Hollingworth, Paul, Abraham, Richard, Rubinsztein, David C., Brayne, Carol, Wavrant-De Vrièze, Fabienne, Hardy, John, O'Donovan, Michael, Lovestone, Simon, Morris, John C., Thal, Leon J., Owen, Michael, Williams, Julie, Goate, Alison
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Alzheimer Disease - genetics Apoptosis Regulatory Proteins - genetics Binding Sites Biological and medical sciences Calcium-Calmodulin-Dependent Protein Kinases - genetics Case-Control Studies Chromosomes, Human, Pair 9 - genetics Databases, Nucleic Acid Death-Associated Protein Kinases Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Female Fundamental and applied biological sciences. Psychology Gene Frequency Genetic Linkage Genetic Markers Genetic Predisposition to Disease Genetics of eukaryotes. Biological and molecular evolution Humans Linkage Disequilibrium Male Medical sciences Molecular and cellular biology Neurology Polymorphism, Single Nucleotide
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Zusammenfassung:	Genetic factors play an important role in the etiology of late-onset Alzheimer's disease (LOAD). We tested gene-centric single nucleotide polymorphisms (SNPs) on chromosome 9 and identified two SNPs in the death-associated protein kinase, DAPK1, that show significant association with LOAD. SNP rs4878104 was significantly associated with LOAD in our discovery case–control sample set (WU) and replicated in each of two initial validation case–control sample sets (P
ISSN:	0964-6906 1460-2083
DOI:	10.1093/hmg/ddl178