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Abstract: 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
Fuente: Nature Communications, 2021, 12(1), 3417 - (CORRECTION), 2023, 14(1), 716
Editorial: Nature Publishing Group
Año de publicación: 2021
Nº de páginas: 16
Tipo de publicación: Artículo de Revista
DOI: 10.1038/s41467-021-22491-8
ISSN: 2041-1723
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DE ROJAS, ITZIAR
MORENO-GRAU, SONIA
TESI, NICCOLO
GRENIER-BOLEY
ANDRADE, VICTOR
JANSEN, IRIS E.
PEDERSON, NANCY L.
STRINGA, NAJADA
ZETTERGREN, ANNA
HERNÁNDEZ, ISABEL
MONRREAL, LAURA
ANTÚNEZ, CARMEN
ANTONELL, ANA
TANKARD, RICK M.
BIS, JOSHUA C.
SIMS, REBECCA
BELLENGUEZ, CÉLINE
QUINTELA, INÉS
ELOY MANUEL RODRIGUEZ RODRIGUEZ
GONZÁLEZ-PEREZ, ANTONIO
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