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- W3018807282 abstract "Abstract Alzheimer’s disease and small vessel ischemic disease frequently co-exist in the aging brain. However, pathogenic links between these 2 disorders are yet to be identified. Therefore we used Taqman genotyping, exome and RNA sequencing to investigate Alzheimer’s disease known pathogenic variants and pathways: APOE ε4 allele, APP-Aβ metabolism and late-onset Alzheimer’s disease main genome-wide association loci ( APOE , BIN1 , CD33 , MS4A6A , CD2AP , PICALM , CLU , CR1 , EPHA1 , ABCA7) in 96 early-onset small vessel ischemic disease Caucasian patients and 368 elderly neuropathologically proven controls (HEX database) and in a mouse model of cerebral hypoperfusion. Only a minority of patients (29%) carried APOE ε4 allele. We did not detect any pathogenic mutation in APP , PSEN1 and PSEN2 and report a burden of truncating mutations in APP-Aß degradation genes. The single-variant association test identified 3 common variants with a likely protective effect on small vessel ischemic disease (0.54>OR > 0.32, adj. p-value <0.05) ( EPHA1 p.M900V and p.V160A and CD33 p.A14V). Moreover, 5/17 APP-Aß catabolism genes were significantly upregulated (LogFC > 1, adj. p-val<0.05) together with Apoe , Ms4a cluster and Cd33 during brain hypoperfusion and their overexpression correlated with the ischemic lesion size. Finally, the detection of Aβ oligomers in the hypoperfused hippocampus supported the link between brain ischemia and Alzheimer’s disease pathology." @default.
- W3018807282 created "2020-05-01" @default.
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- W3018807282 date "2020-04-28" @default.
- W3018807282 modified "2023-10-01" @default.
- W3018807282 title "Investigating APOE, APP-Aβ metabolism genes and Alzheimer’s disease GWAS hits in brain small vessel ischemic disease" @default.
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- W3018807282 cites W1729585270 @default.
- W3018807282 cites W1834255231 @default.
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- W3018807282 cites W1968725150 @default.
- W3018807282 cites W1972764039 @default.
- W3018807282 cites W1973650927 @default.
- W3018807282 cites W1983800998 @default.
- W3018807282 cites W1984544042 @default.
- W3018807282 cites W1984737558 @default.
- W3018807282 cites W1989536974 @default.
- W3018807282 cites W2002181764 @default.
- W3018807282 cites W2006035554 @default.
- W3018807282 cites W2006534012 @default.
- W3018807282 cites W2008092392 @default.
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- W3018807282 cites W2058803120 @default.
- W3018807282 cites W2060996851 @default.
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- W3018807282 doi "https://doi.org/10.1038/s41598-020-63183-5" @default.
- W3018807282 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7188838" @default.
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- W3018807282 hasPublicationYear "2020" @default.
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