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S1‐02‐01: Prion‐like properties of tau
Author(s) -
Goedert Michel
Publication year - 2011
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2011.05.204
Subject(s) - tauopathy , progressive supranuclear palsy , tau protein , corticobasal degeneration , gene isoform , genetically modified mouse , locus coeruleus , neocortex , neuroscience , mutant , biology , hippocampal formation , cerebral cortex , human brain , neurodegeneration , chemistry , transgene , pathology , alzheimer's disease , biochemistry , central nervous system , medicine , disease , gene
samples, using logistic regression controlling for age the number of ApoE4 alleles. 5131 genomic regions for blood and 4945 genomic regions for brain samples were tested for association. No region of significance (5e-6) for genome-wide association tests was found in blood samples while 36 regions >5KB were found in brain samples. CNV frequencies range from infrequent (10%) to rare (<2%) in these regions with high OR. Conclusions: CNV analysis suggests rare CNVs with strong effect size on the risk of Alzheimer’s disease. We are currently validating our findings using an additional ADGC dataset of 2256 subjects genotyped using Illumina OmniExpress array. Findings will be presented at the ICAD conference.