WFRF:(Martínez Juan)
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 27317naa a2207825 4500 | |
| 001 | oai:gup.ub.gu.se/306472 | |
| 003 | SwePub | |
| 008 | 240528s2021 | |||||||||||000 ||eng| | |
| 009 | oai:DiVA.org:su-196130 | |
| 009 | oai:DiVA.org:hj-54089 | |
| 009 | oai:DiVA.org:uu-463050 | |
| 009 | oai:prod.swepub.kib.ki.se:147981593 | |
| 024 | 7 | a https://gup.ub.gu.se/publication/3064722 URI |
| 024 | 7 | a https://doi.org/10.1038/s41467-021-22491-82 DOI |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-1961302 URI |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:hj:diva-540892 URI |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4630502 URI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1479815932 URI |
| 040 | a (SwePub)gud (SwePub)sud (SwePub)hjd (SwePub)uud (SwePub)ki | |
| 041 | a eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a de Rojas, I.4 aut |
| 245 | 1 0 | a Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores |
| 264 | c 2021-06-07 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2021 |
| 520 | a 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). | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Geriatrik0 (SwePub)302222 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Geriatrics0 (SwePub)302222 hsv//eng |
| 653 | a detection method | |
| 653 | a genetic analysis | |
| 653 | a nervous system disorder | |
| 653 | a public health | |
| 653 | a risk assessment | |
| 653 | a risk factor | |
| 653 | a stratification | |
| 653 | a amyloid precursor protein | |
| 653 | a apolipoprotein E | |
| 653 | a APP protein | |
| 653 | a human | |
| 653 | a aged | |
| 653 | a Alzheimer disease | |
| 653 | a case control study | |
| 653 | a cohort analysis | |
| 653 | a female | |
| 653 | a follow up | |
| 653 | a genetic predisposition | |
| 653 | a genetics | |
| 653 | a genome-wide association study | |
| 653 | a heterozygote | |
| 653 | a human | |
| 653 | a information processing | |
| 653 | a male | |
| 653 | a metabolism | |
| 653 | a middle aged | |
| 653 | a multifactorial inheritance | |
| 653 | a onset age | |
| 653 | a pathology | |
| 653 | a procedures | |
| 653 | a single nucleotide polymorphism | |
| 653 | a very elderly | |
| 653 | a Age of Onset | |
| 653 | a Aged | |
| 653 | a 80 and over | |
| 653 | a Amyloid beta-Protein Precursor | |
| 653 | a Apolipoproteins E | |
| 653 | a Case-Control Studies | |
| 653 | a Cohort Studies | |
| 653 | a Datasets as Topic | |
| 653 | a Follow-Up Studies | |
| 653 | a Genetic Predisposition to Disease | |
| 653 | a Humans | |
| 653 | a Polymorphism | |
| 653 | a Single Nucleotide | |
| 653 | a Risk Factors | |
| 653 | a detection method | |
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| 700 | 1 | a Zettergren, Anna,d 1978u Gothenburg 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)4 aut0 (Swepub:gu)xhakan |
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| 700 | 1 | a Kern, Silkeu Gothenburg 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)4 aut0 (Swepub:gu)xkersi |
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| 700 | 1 | a Blennow, Kaj,d 1958u Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry4 aut0 (Swepub:gu)xbleka |
| 700 | 1 | a Huisman, M.4 aut |
| 700 | 1 | a Andreassen, O. A.4 aut |
| 700 | 1 | a Posthuma, D.4 aut |
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| 700 | 1 | a Lambert, J. C.4 aut |
| 700 | 1 | a van der Lee, S. J.4 aut |
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| 710 | 2 | a Karolinska Institutetb Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi4 org |
| 773 | 0 | t Nature Communicationsd : Springer Science and Business Media LLCg 12:1q 12:1x 2041-1723 |
| 856 | 4 | u https://www.nature.com/articles/s41467-021-22491-8.pdf |
| 856 | 4 | u https://doi.org/10.1038/s41467-021-22491-8y Fulltext |
| 856 | 4 | u https://www.nature.com/articles/s41467-023-36192-xy Erratum: Author Correction |
| 856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:1624877/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/306472 |
| 856 | 4 8 | u https://doi.org/10.1038/s41467-021-22491-8 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-196130 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:hj:diva-54089 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-463050 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:147981593 |
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