Alternative splicing in aging and Alzheimer's disease: Highlighting the role of tau and estrogen receptor α isoforms in the hypothalamus

2021 ◽  
pp. 177-189
Author(s):  
Tatjana A. Ishunina
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Estrogen Receptor ◽  
Alternative Splicing ◽  
Estrogen Receptor Α

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.

P1-292: Tagging SNPs of estrogen receptor α (ERα) gene is associated to the risk of Alzheimer's disease in Chinese

2006 ◽  
Vol 2 ◽  
pp. S182-S182
Author(s):  
Nelson Leung Sang Tang ◽  
Suk-Ling Ma ◽  
Linda Chiu Wa Lam ◽  
Helen Fung Kum Chiu
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Estrogen Receptor ◽  
Estrogen Receptor Α

Association of the Estrogen Receptor α Gene Polymorphisms with Sporadic Alzheimer's Disease

1999 ◽  
Vol 265 (2) ◽  
pp. 335-338 ◽  
Author(s):  
Maria Luisa Brandi ◽  
Lucia Becherini ◽  
Luigi Gennari ◽  
Marco Racchi ◽  
Angelo Bianchetti ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Estrogen Receptor ◽  
Gene Polymorphisms ◽  
Estrogen Receptor Α ◽  
Sporadic Alzheimer’S Disease ◽  
Estrogen Receptor Α Gene
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