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Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
Nature communications, 2021-06, Vol.12 (1), p.3417-16, Article 3417
2021
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Details

Autor(en) / Beteiligte
Titel
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
Ist Teil von
  • Nature communications, 2021-06, Vol.12 (1), p.3417-16, Article 3417
Ort / Verlag
England: Nature Publishing Group
Erscheinungsjahr
2021
Quelle
MEDLINE
Beschreibungen/Notizen
  • 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.
Sprache
Englisch; Norwegisch
Identifikatoren
ISSN: 2041-1723
eISSN: 2041-1723
DOI: 10.1038/s41467-021-22491-8
Titel-ID: cdi_doaj_primary_oai_doaj_org_article_3baab8412752494a9ff0927d1cfb9b68
Format
–
Schlagworte
80 and over, Age of Onset, Aged, Aged, 80 and over, Alzheimer disease, Alzheimer Disease - epidemiology, Alzheimer Disease - genetics, Alzheimer Disease - pathology, Alzheimer's disease, Amyloid, Amyloid beta-Protein Precursor, Amyloid beta-Protein Precursor - genetics, Amyloid beta-Protein Precursor - metabolism, amyloid precursor protein, Apolipoprotein E, Apolipoproteins E, Apolipoproteins E - genetics, APP protein, case control study, Case-Control Studies, Clinical trials, cohort analysis, Cohort Studies, Datasets as Topic, detection method, Female, follow up, Follow-Up Studies, genetic analysis, genetic predisposition, Genetic Predisposition to Disease, genetics, Genome-Wide Association Study, Genomes, Health risks, Heterozygote, human, Humans, information processing, Life Sciences, Loci, Male, Medicin och hälsovetenskap, metabolism, Middle Aged, Multifactorial Inheritance, nervous system disorder, Neurodegenerative diseases, Neurosciences, Neurovetenskaper, onset age, pathology, Polymorphism, Polymorphism, Single Nucleotide, procedures, public health, risk assessment, Risk Assessment - methods, risk factor, Risk Factors, Santé publique et épidémiologie, Single Nucleotide, single nucleotide polymorphism, stratification, very elderly

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