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Common variants in ...
Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
- Article/chapterEnglish2021
Publisher, publication year, extent ...
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2021-06-07
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Springer Science and Business Media LLC,2021
Numbers
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LIBRIS-ID:oai:gup.ub.gu.se/306472
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https://gup.ub.gu.se/publication/306472URI
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https://doi.org/10.1038/s41467-021-22491-8DOI
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https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-196130URI
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https://urn.kb.se/resolve?urn=urn:nbn:se:hj:diva-54089URI
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-463050URI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:147981593URI
Supplementary language notes
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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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. © 2021, The Author(s).
Subject headings and genre
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Moreno-Grau, S.
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Tesi, N.Karolinska Institutet
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Zettergren, Anna,1978Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Centrum för åldrande och hälsa (AgeCap),Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry,Centre for Ageing and Health (Agecap)(Swepub:gu)xhakan
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Bullido, M. J.
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Lleó, A.
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Real, L. M.
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Marquié, M.
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Serrano-Ríos, M.
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Orellana, A.
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Tárraga, L.
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Blennow, Kaj,1958Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry(Swepub:gu)xbleka
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Huisman, M.
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Andreassen, O. A.
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Posthuma, D.
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Lambert, J. C.
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van der Lee, S. J.
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Ruiz, A.
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Karolinska InstitutetInstitutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi
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Leonenko, G.
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Menzies, G.
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Windle, G.
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Harwood, J.
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Phillips, J.
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Bennett, K.
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Luckuck, L.
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Clare, L.
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Woods, R.
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Saad, S.
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Burholt, V.
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Kehoe, P. G.
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Scheltens, P.
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Holstege, H.
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Carracedo, Á
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Amouyel, P.
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Schellenberg, G. ...
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Williams, J.
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Seshadri, S.
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van Duijn, C. M.
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Mather, K. A.
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Sánchez-Valle, R ...
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Serrano-Ríos, M.
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Blennow, Kaj, 19 ...
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Huisman, M.
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Andreassen, O. A ...
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Posthuma, D.
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van der Flier, W ...
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Ramirez, A.
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Lambert, J. C.
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van der Lee, S. ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Neurosciences
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Geriatrics
- Articles in the publication
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Nature Communica ...
- By the university
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University of Gothenburg
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Stockholm University
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Jönköping University
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Uppsala University
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Karolinska Institutet