Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00159816%3A_____%2F21%3A00075224" target="_blank" >RIV/00159816:_____/21:00075224 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/21:10428372 RIV/00216208:11130/21:10428372
Result on the web
<a href="https://www.nature.com/articles/s41467-021-22491-8" target="_blank" >https://www.nature.com/articles/s41467-021-22491-8</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/s41467-021-22491-8" target="_blank" >10.1038/s41467-021-22491-8</a>
Alternative languages
Result language
angličtina
Original language name
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
Original language description
Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n=409,435 and validation size n=58,190). Here, we add six variants associated with Alzheimer's disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer's disease patients in APOE 4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer's disease. Known genetic loci account for only a fraction of the genetic contribution to Alzheimer's disease. Here, the authors have performed a large genome-wide meta-analysis comprising 409,435 individuals to discover 6 new loci and demonstrate the efficacy of an Alzheimer's disease polygenic risk score.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10700 - Other natural sciences
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
NATURE COMMUNICATIONS
ISSN
2041-1723
e-ISSN
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Volume of the periodical
12
Issue of the periodical within the volume
1
Country of publishing house
DE - GERMANY
Number of pages
16
Pages from-to
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UT code for WoS article
000713875100002
EID of the result in the Scopus database
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