Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023884%3A_____%2F21%3A00009341" target="_blank" >RIV/00023884:_____/21:00009341 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/21:10428372 RIV/00159816:_____/21:00075224 RIV/00064203:_____/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>

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 ɛ4 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.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30103 - Neurosciences (including psychophysiology)

Project

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Continuities

N - Vyzkumna aktivita podporovana z neverejnych zdroju

Publication year

2021

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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

GB - UNITED KINGDOM

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

2-s2.0-85107895788