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3 results on '"Keta D"'

1. Evidence for an association between KIBRA and late-onset Alzheimer's disease.

Author

Corneveaux JJ, Liang WS, Reiman EM, Webster JA, Myers AJ, Zismann VL, Joshipura KD, Pearson JV, Hu-Lince D, Craig DW, Coon KD, Dunckley T, Bandy D, Lee W, Chen K, Beach TG, Mastroeni D, Grover A, Ravid R, Sando SB, Aasly JO, Heun R, Jessen F, Kölsch H, Rogers J, Hutton ML, Melquist S, Petersen RC, Alexander GE, Caselli RJ, Papassotiropoulos A, Stephan DA, and Huentelman MJ

Subjects
Aged, Aged, 80 and over, Alzheimer Disease complications, Alzheimer Disease diagnostic imaging, Apolipoproteins E genetics, Brain diagnostic imaging, Brain enzymology, Brain Mapping, Cognition Disorders etiology, Cognition Disorders genetics, Female, Gene Expression Profiling methods, Genome-Wide Association Study methods, Genotype, Glial Fibrillary Acidic Protein metabolism, Humans, Intracellular Signaling Peptides and Proteins, Male, Neurons metabolism, Neurons pathology, Neuropsychological Tests, Oligonucleotide Array Sequence Analysis methods, Phosphoproteins, Polymorphism, Single Nucleotide genetics, Positron-Emission Tomography methods, Alzheimer Disease genetics, Alzheimer Disease pathology, Brain pathology, Genetic Predisposition to Disease, Proteins genetics
Abstract

We recently reported evidence for an association between the individual variation in normal human episodic memory and a common variant of the KIBRA gene, KIBRA rs17070145 (T-allele). Since memory impairment is a cardinal clinical feature of Alzheimer's disease (AD), we investigated the possibility of an association between the KIBRA gene and AD using data from neuronal gene expression, brain imaging studies, and genetic association tests. KIBRA was significantly over-expressed and three of its four known binding partners under-expressed in AD-affected hippocampal, posterior cingulate and temporal cortex regions (P<0.010, corrected) in a study of laser-capture microdissected neurons. Using positron emission tomography in a cohort of cognitively normal, late-middle-aged persons genotyped for KIBRA rs17070145, KIBRA T non-carriers exhibited lower glucose metabolism than did carriers in posterior cingulate and precuneus brain regions (P<0.001, uncorrected). Lastly, non-carriers of the KIBRA rs17070145 T-allele had increased risk of late-onset AD in an association study of 702 neuropathologically verified expired subjects (P=0.034; OR=1.29) and in a combined analysis of 1026 additional living and expired subjects (P=0.039; OR=1.26). Our findings suggest that KIBRA is associated with both individual variation in normal episodic memory and predisposition to AD., (Copyright 2008 Elsevier Inc. All rights reserved.)

Published
2010
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2. GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers.

Author

Reiman EM, Webster JA, Myers AJ, Hardy J, Dunckley T, Zismann VL, Joshipura KD, Pearson JV, Hu-Lince D, Huentelman MJ, Craig DW, Coon KD, Liang WS, Herbert RH, Beach T, Rohrer KC, Zhao AS, Leung D, Bryden L, Marlowe L, Kaleem M, Mastroeni D, Grover A, Heward CB, Ravid R, Rogers J, Hutton ML, Melquist S, Petersen RC, Alexander GE, Caselli RJ, Kukull W, Papassotiropoulos A, and Stephan DA

Subjects
Brain metabolism, Brain pathology, Brain physiopathology, Brain Chemistry genetics, Cell Line, Tumor, DNA Mutational Analysis, Gene Expression Regulation genetics, Gene Frequency, Genetic Markers genetics, Genetic Testing, Haplotypes genetics, Humans, Mutation, Neurofibrillary Tangles genetics, Neurofibrillary Tangles metabolism, Neurofibrillary Tangles pathology, Phosphorylation, Risk Factors, tau Proteins metabolism, Adaptor Proteins, Signal Transducing genetics, Alzheimer Disease genetics, Alzheimer Disease metabolism, Apolipoprotein E4 genetics, Genetic Predisposition to Disease genetics, Polymorphism, Single Nucleotide genetics
Abstract

The apolipoprotein E (APOE) epsilon4 allele is the best established genetic risk factor for late-onset Alzheimer's disease (LOAD). We conducted genome-wide surveys of 502,627 single-nucleotide polymorphisms (SNPs) to characterize and confirm other LOAD susceptibility genes. In epsilon4 carriers from neuropathologically verified discovery, neuropathologically verified replication, and clinically characterized replication cohorts of 1411 cases and controls, LOAD was associated with six SNPs from the GRB-associated binding protein 2 (GAB2) gene and a common haplotype encompassing the entire GAB2 gene. SNP rs2373115 (p = 9 x 10(-11)) was associated with an odds ratio of 4.06 (confidence interval 2.81-14.69), which interacts with APOE epsilon4 to further modify risk. GAB2 was overexpressed in pathologically vulnerable neurons; the Gab2 protein was detected in neurons, tangle-bearing neurons, and dystrophic neuritis; and interference with GAB2 gene expression increased tau phosphorylation. Our findings suggest that GAB2 modifies LOAD risk in APOE epsilon4 carriers and influences Alzheimer's neuropathology.

Published
2007
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3. GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers

Author

Eric M, Reiman, Jennifer A, Webster, Amanda J, Myers, John, Hardy, Travis, Dunckley, Victoria L, Zismann, Keta D, Joshipura, John V, Pearson, Diane, Hu-Lince, Matthew J, Huentelman, David W, Craig, Keith D, Coon, Winnie S, Liang, RiLee H, Herbert, Thomas, Beach, Kristen C, Rohrer, Alice S, Zhao, Doris, Leung, Leslie, Bryden, Lauren, Marlowe, Mona, Kaleem, Diego, Mastroeni, Andrew, Grover, Christopher B, Heward, Rivka, Ravid, Joseph, Rogers, Michael L, Hutton, Stacey, Melquist, Ron C, Petersen, Gene E, Alexander, Richard J, Caselli, Walter, Kukull, Andreas, Papassotiropoulos, and Dietrich A, Stephan

Subjects
Brain Chemistry, Genetic Markers, Apolipoprotein E4, DNA Mutational Analysis, Brain, Neurofibrillary Tangles, tau Proteins, Polymorphism, Single Nucleotide, Article, Gene Expression Regulation, Gene Frequency, Haplotypes, Alzheimer Disease, Risk Factors, Cell Line, Tumor, Mutation, Humans, Genetic Predisposition to Disease, Genetic Testing, Phosphorylation, Adaptor Proteins, Signal Transducing
Abstract

The apolipoprotein E (APOE) epsilon4 allele is the best established genetic risk factor for late-onset Alzheimer's disease (LOAD). We conducted genome-wide surveys of 502,627 single-nucleotide polymorphisms (SNPs) to characterize and confirm other LOAD susceptibility genes. In epsilon4 carriers from neuropathologically verified discovery, neuropathologically verified replication, and clinically characterized replication cohorts of 1411 cases and controls, LOAD was associated with six SNPs from the GRB-associated binding protein 2 (GAB2) gene and a common haplotype encompassing the entire GAB2 gene. SNP rs2373115 (p = 9 x 10(-11)) was associated with an odds ratio of 4.06 (confidence interval 2.81-14.69), which interacts with APOE epsilon4 to further modify risk. GAB2 was overexpressed in pathologically vulnerable neurons; the Gab2 protein was detected in neurons, tangle-bearing neurons, and dystrophic neuritis; and interference with GAB2 gene expression increased tau phosphorylation. Our findings suggest that GAB2 modifies LOAD risk in APOE epsilon4 carriers and influences Alzheimer's neuropathology.

Published
2007

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