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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 07341naa a2201765 4500 | |
| 001 | oai:gup.ub.gu.se/282901 | |
| 003 | SwePub | |
| 008 | 240528s2019 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://gup.ub.gu.se/publication/2829012 URI |
| 024 | 7 | a https://doi.org/10.1007/s00401-019-02026-82 DOI |
| 040 | a (SwePub)gu | |
| 041 | a eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a van der Lee, S. J.4 aut |
| 245 | 1 0 | a A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity |
| 264 | c 2019-05-26 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2019 |
| 520 | a The genetic variant rs72824905-G (minor allele) in the PLCG2 gene was previously associated with a reduced Alzheimer's disease risk (AD). The role of PLCG2 in immune system signaling suggests it may also protect against other neurodegenerative diseases and possibly associates with longevity. We studied the effect of the rs72824905-G on seven neurodegenerative diseases and longevity, using 53,627 patients, 3,516 long-lived individuals and 149,290 study-matched controls. We replicated the association of rs72824905-G with reduced AD risk and we found an association with reduced risk of dementia with Lewy bodies (DLB) and frontotemporal dementia (FTD). We did not find evidence for an effect on Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS) and multiple sclerosis (MS) risks, despite adequate sample sizes. Conversely, the rs72824905-G allele was associated with increased likelihood of longevity. By-proxy analyses in the UK Biobank supported the associations with both dementia and longevity. Concluding, rs72824905-G has a protective effect against multiple neurodegenerative diseases indicating shared aspects of disease etiology. Our findings merit studying the PLC gamma 2 pathway as drug-target. | |
| 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 |
| 653 | a Alzheimer's disease | |
| 653 | a Frontotemporal dementia | |
| 653 | a Dementia with Lewy bodies | |
| 653 | a Progressive supranuclear palsy | |
| 653 | a Parkinson's disease | |
| 653 | a Amyotrophic lateral sclerosis | |
| 653 | a Multiple sclerosis | |
| 653 | a Neurodegenerative disease | |
| 653 | a Longevity | |
| 653 | a PLCG2 | |
| 653 | a Phospholipase C Gamma 2 | |
| 653 | a genome-wide association | |
| 653 | a phospholipase-c-gamma | |
| 653 | a genetic architecture | |
| 653 | a innate immunity | |
| 653 | a activation | |
| 653 | a apoe | |
| 653 | a autoimmunity | |
| 653 | a inflammation | |
| 653 | a replication | |
| 653 | a mechanisms | |
| 653 | a Neurosciences & Neurology | |
| 653 | a Pathology | |
| 700 | 1 | a Conway, O. J.4 aut |
| 700 | 1 | a Jansen, I.4 aut |
| 700 | 1 | a Carrasquillo, M. M.4 aut |
| 700 | 1 | a Kleineidam, L.4 aut |
| 700 | 1 | a van den Akker, E.4 aut |
| 700 | 1 | a Hernandez, I.4 aut |
| 700 | 1 | a van Eijk, K. R.4 aut |
| 700 | 1 | a Stringa, N.4 aut |
| 700 | 1 | a Chen, J. A.4 aut |
| 700 | 1 | a Zettergren, Anna,d 1978u Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi,Centrum för åldrande och hälsa (AgeCap),Institute of Neuroscience and Physiology,Centre for Ageing and Health (Agecap)4 aut0 (Swepub:gu)xhakan |
| 700 | 1 | a Andlauer, T. F. M.4 aut |
| 700 | 1 | a Diez-Fairen, M.4 aut |
| 700 | 1 | a Simon-Sanchez, J.4 aut |
| 700 | 1 | a Lleo, A.4 aut |
| 700 | 1 | a Zetterberg, H.4 aut |
| 700 | 1 | a Nygaard, M.4 aut |
| 700 | 1 | a Blauwendraat, C.4 aut |
| 700 | 1 | a Savage, J. E.4 aut |
| 700 | 1 | a Mengel-From, J.4 aut |
| 700 | 1 | a Moreno-Grau, S.4 aut |
| 700 | 1 | a Wagner, M.4 aut |
| 700 | 1 | a Fortea, J.4 aut |
| 700 | 1 | a Keogh, M. J.4 aut |
| 700 | 1 | a Blennow, Kaj,d 1958u Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi,Institute of Neuroscience and Physiology4 aut0 (Swepub:gu)xbleka |
| 700 | 1 | a Skoog, I.4 aut |
| 700 | 1 | a Friese, M. A.4 aut |
| 700 | 1 | a Pletnikova, O.4 aut |
| 700 | 1 | a Zulaica, M.4 aut |
| 700 | 1 | a Lage, C.4 aut |
| 700 | 1 | a de Rojas, I.4 aut |
| 700 | 1 | a Riedel-Heller, S.4 aut |
| 700 | 1 | a Illan-Gala, I.4 aut |
| 700 | 1 | a Wei, W.4 aut |
| 700 | 1 | a Jeune, B.4 aut |
| 700 | 1 | a Orellana, A.4 aut |
| 700 | 1 | a Bergh, F. T.4 aut |
| 700 | 1 | a Wang, X.4 aut |
| 700 | 1 | a Hulsman, M.4 aut |
| 700 | 1 | a Beker, N.4 aut |
| 700 | 1 | a Tesi, N.4 aut |
| 700 | 1 | a Morris, C. M.4 aut |
| 700 | 1 | a Indakoetxea, B.4 aut |
| 700 | 1 | a Collij, L. E.4 aut |
| 700 | 1 | a Scherer, M.4 aut |
| 700 | 1 | a Morenas-Rodriguez, E.4 aut |
| 700 | 1 | a Ironside, J. W.4 aut |
| 700 | 1 | a van Berckel, B. N. M.4 aut |
| 700 | 1 | a Alcolea, D.4 aut |
| 700 | 1 | a Wiendl, H.4 aut |
| 700 | 1 | a Strickland, S. L.4 aut |
| 700 | 1 | a Pastor, P.4 aut |
| 700 | 1 | a Rodriguez Rodriguez, E.4 aut |
| 700 | 1 | a Boeve, B. F.4 aut |
| 700 | 1 | a Petersen, R. C.4 aut |
| 700 | 1 | a Ferman, T. J.4 aut |
| 700 | 1 | a van Gerpen, J. A.4 aut |
| 700 | 1 | a Reinders, M. J. T.4 aut |
| 700 | 1 | a Uitti, R. J.4 aut |
| 700 | 1 | a Tarraga, L.4 aut |
| 700 | 1 | a Maier, W.4 aut |
| 700 | 1 | a Dols-Icardo, O.4 aut |
| 700 | 1 | a Kawalia, A.4 aut |
| 700 | 1 | a Dalmasso, M. C.4 aut |
| 700 | 1 | a Boada, M.4 aut |
| 700 | 1 | a Zettl, U. K.4 aut |
| 700 | 1 | a van Schoor, N. M.4 aut |
| 700 | 1 | a Beekman, M.4 aut |
| 700 | 1 | a Allen, M.4 aut |
| 700 | 1 | a Masliah, E.4 aut |
| 700 | 1 | a de Munain, A. L.4 aut |
| 700 | 1 | a Pantelyat, A.4 aut |
| 700 | 1 | a Wszolek, Z. K.4 aut |
| 700 | 1 | a Ross, O. A.4 aut |
| 700 | 1 | a Dickson, D. W.4 aut |
| 700 | 1 | a Graff-Radford, N. R.4 aut |
| 700 | 1 | a Knopman, D.4 aut |
| 700 | 1 | a Rademakers, R.4 aut |
| 700 | 1 | a Lemstra, A. W.4 aut |
| 700 | 1 | a Pijnenburg, Y. A. L.4 aut |
| 700 | 1 | a Scheltens, P.4 aut |
| 700 | 1 | a Gasser, T.4 aut |
| 700 | 1 | a Chinnery, P. F.4 aut |
| 700 | 1 | a Hemmer, B.4 aut |
| 700 | 1 | a Huisman, M. A.4 aut |
| 700 | 1 | a Troncoso, J.4 aut |
| 700 | 1 | a Moreno, F.4 aut |
| 700 | 1 | a Nohr, E. A.4 aut |
| 700 | 1 | a Sorensen, T. I. A.4 aut |
| 700 | 1 | a Heutink, P.4 aut |
| 700 | 1 | a Sanchez-Juan, P.4 aut |
| 700 | 1 | a Posthuma, D.4 aut |
| 700 | 1 | a Clarimon, J.4 aut |
| 700 | 1 | a Christensen, K.4 aut |
| 700 | 1 | a Ertekin-Taner, N.4 aut |
| 700 | 1 | a Scholz, S. W.4 aut |
| 700 | 1 | a Ramirez, A.4 aut |
| 700 | 1 | a Ruiz, A.4 aut |
| 700 | 1 | a Slagboom, E.4 aut |
| 700 | 1 | a van der Flier, W. M.4 aut |
| 700 | 1 | a Holstege, H.4 aut |
| 710 | 2 | a Göteborgs universitetb Institutionen för neurovetenskap och fysiologi4 org |
| 773 | 0 | t Acta Neuropathologicad : Springer Science and Business Media LLCg 138:2, s. 237-250q 138:2<237-250x 0001-6322x 1432-0533 |
| 856 | 4 | u https://link.springer.com/content/pdf/10.1007/s00401-019-02026-8.pdf |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/282901 |
| 856 | 4 8 | u https://doi.org/10.1007/s00401-019-02026-8 |
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