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  • de Rojas, I. (author)

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

  • Article/chapterEnglish2021

Publisher, publication year, extent ...

  • 2021-06-07
  • Springer Science and Business Media LLC,2021

Numbers

  • LIBRIS-ID:oai:gup.ub.gu.se/306472
  • https://gup.ub.gu.se/publication/306472URI
  • https://doi.org/10.1038/s41467-021-22491-8DOI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-196130URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:hj:diva-54089URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-463050URI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:147981593URI

Supplementary language notes

  • Language:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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).

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  • Bresner, C. (author)
  • Grozeva, D. (author)
  • Bellou, E. (author)
  • Sommerville, E. W. (author)
  • Matthews, F. (author)
  • Leonenko, G. (author)
  • Menzies, G. (author)
  • Windle, G. (author)
  • Harwood, J. (author)
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  • Woods, R. (author)
  • Saad, S. (author)
  • Burholt, V. (author)
  • Jansen, I. E. (author)
  • Rongve, A. (author)
  • Kehoe, P. G. (author)
  • Garcia-Ribas, G. (author)
  • Sánchez-Juan, P. (author)
  • Pastor, P. (author)
  • Pérez-Tur, J. (author)
  • Piñol-Ripoll, G. (author)
  • Lopez de Munain, A. (author)
  • García-Alberca, J. M. (author)
  • Bullido, M. J. (author)
  • Álvarez, V. (author)
  • Lleó, A. (author)
  • Real, L. M. (author)
  • Mir, P. (author)
  • Medina, M. (author)
  • Scheltens, P. (author)
  • Holstege, H. (author)
  • Marquié, M. (author)
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  • Carracedo, Á (author)
  • Amouyel, P. (author)
  • Schellenberg, G. D. (author)
  • Williams, J. (author)
  • Seshadri, S. (author)
  • van Duijn, C. M. (author)
  • Mather, K. A. (author)
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  • Serrano-Ríos, M. (author)
  • Orellana, A. (author)
  • Tárraga, L. (author)
  • 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 (author)
  • Huisman, M. (author)
  • Andreassen, O. A. (author)
  • Posthuma, D. (author)
  • Clarimón, J. (author)
  • Boada, M. (author)
  • van der Flier, W. M. (author)
  • Ramirez, A. (author)
  • Lambert, J. C. (author)
  • van der Lee, S. J. (author)
  • Ruiz, A. (author)
  • Karolinska InstitutetInstitutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi (creator_code:org_t)

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About the subject
MEDICAL AND HEALTH SCIENCES
MEDICAL AND HEAL ...
and Basic Medicine
and Neurosciences
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