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

Antonio Daniele, Emanuele Maria Costantini, Giordano Lacidogna

Risultato della ricerca: Contributo in rivistaArticolo in rivista


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.
Lingua originaleEnglish
pagine (da-a)3417-3417
Numero di pagine1
RivistaNature Communications
Stato di pubblicazionePubblicato - 2021


  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Alzheimer Disease
  • Amyloid beta-Protein Precursor
  • Apolipoproteins E
  • Case-Control Studies
  • Cohort Studies
  • Datasets as Topic
  • Female
  • Follow-Up Studies
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Multifactorial Inheritance
  • Polymorphism, Single Nucleotide
  • Risk Assessment
  • Risk Factors


Entra nei temi di ricerca di 'Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores'. Insieme formano una fingerprint unica.

Cita questo