scholarly journals Imaging genomics discovery of a new risk variant for Alzheimer's disease in the postsynaptic SHARPIN gene

2020 ◽  
Vol 41 (13) ◽  
pp. 3737-3748 ◽  
Author(s):  
Sourena Soheili‐Nezhad ◽  
Neda Jahanshad ◽  
Sebastian Guelfi ◽  
Reza Khosrowabadi ◽  
Andrew J. Saykin ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Risk Variant ◽  
Imaging Genomics

scholarly journals Alternative Splicing Regulation of an Alzheimer’s Risk Variant in CLU

2020 ◽  
Vol 21 (19) ◽  
pp. 7079
Author(s):  
Seonggyun Han ◽  
Kwangsik Nho ◽  
Younghee Lee
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Alternative Splicing ◽  
Genetic Variants ◽  
Temporal Cortex ◽  
Integrative Approach ◽  
Splicing Regulation ◽  
Rna Seq ◽  
Risk Variant

Clusterin (CLU) is one of the risk genes most associated with late onset Alzheimer’s disease (AD), and several genetic variants in CLU are associated with AD risk. However, the functional role of known AD risk genetic variants in CLU has been little explored. We investigated the effect of an AD risk variant (rs7982) in the 5th exon of CLU on alternative splicing by using an integrative approach of brain-tissue-based RNA-Seq and whole genome sequencing data from Accelerating Medicines Partnership—Alzheimer’s Disease (AMP-AD). RNA-Seq data were generated from three regions in the temporal lobe of the brain—the temporal cortex, superior temporal gyrus, and parahippocampal gyrus. The rs7982 was significantly associated with intron retention (IR) of the 5th exon of CLU; as the number of alternative alleles (G) increased, the IR rates decreased more significantly in females than in males. Our results suggest a sex-dependent role of rs7982 in AD pathogenesis via splicing regulation.

scholarly journals Common Alzheimer's Disease Risk Variant Within the CLU Gene Affects White Matter Microstructure in Young Adults

2011 ◽  
Vol 31 (18) ◽  
pp. 6764-6770 ◽  
Author(s):  
M. N. Braskie ◽  
N. Jahanshad ◽  
J. L. Stein ◽  
M. Barysheva ◽  
K. L. McMahon ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Young Adults ◽  
White Matter ◽  
Disease Risk ◽  
Risk Variant ◽  
White Matter Microstructure

scholarly journals APOE-ε4 risk variant for Alzheimer's disease modifies the association between cognitive performance and cerebral morphology in healthy middle-aged individuals

2019 ◽  
Vol 23 ◽  
pp. 101818 ◽  
Author(s):  
Raffaele Cacciaglia ◽  
José Luis Molinuevo ◽  
Carles Falcón ◽  
Gonzalo Sánchez-Benavides ◽  
Nina Gramunt ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Cognitive Performance ◽  
Middle Aged ◽  
Risk Variant ◽  
Apoe Ε4

Alzheimer's disease risk variant in CLU is associated with neural inefficiency in healthy individuals

2014 ◽  
Vol 11 (10) ◽  
pp. 1144-1152 ◽  
Author(s):  
Thomas M. Lancaster ◽  
Lisa M. Brindley ◽  
Katherine E. Tansey ◽  
Rebecca C. Sims ◽  
Kiran Mantripragada ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Disease Risk ◽  
Healthy Individuals ◽  
Risk Variant
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