作者
Sven J Van Der Lee, Olivia J Conway, Iris Jansen, Minerva M Carrasquillo, Luca Kleineidam, Erik van den Akker, Isabel Hernández, Kristel R van Eijk, Najada Stringa, Jason A Chen, Anna Zettergren, Till FM Andlauer, Monica Diez-Fairen, Javier Simon-Sanchez, Alberto Lleó, Henrik Zetterberg, Marianne Nygaard, Cornelis Blauwendraat, Jeanne E Savage, Jonas Mengel-From, Sonia Moreno-Grau, Michael Wagner, Juan Fortea, Michael J Keogh, Kaj Blennow, Ingmar Skoog, Manuel A Friese, Olga Pletnikova, Miren Zulaica, Carmen Lage, Itziar De Rojas, Steffi Riedel-Heller, Ignacio Illán-Gala, Wei Wei, Bernard Jeune, Adelina Orellana, Florian Then Bergh, Xue Wang, Marc Hulsman, Nina Beker, Niccolo Tesi, Christopher M Morris, Begona Indakoetxea, Lyduine E Collij, Martin Scherer, Estrella Morenas-Rodriguez, James W Ironside, Bart NM van Berckel, Daniel Alcolea, Heinz Wiendl, Samantha L Strickland, Pau Pastor, Eloy Rodriguez Rodriguez, DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank), EADB (Alzheimer Disease European DNA biobank), IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium), RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia), Netherlands Brain Bank (NBB), Bradley F Boeve, Ronald C Petersen, Tanis J Ferman, Jay A van Gerpen, Marcel JT Reinders, Ryan J Uitti, Lluís Tárraga, Wolfgang Maier, Oriol Dols-Icardo, Amit Kawalia, Maria Carolina Dalmasso, Mercè Boada, Uwe K Zettl, Natasja M van Schoor, Marian Beekman, Mariet Allen, Eliezer Masliah, Adolfo López de Munain, Alexander Pantelyat, Zbigniew K Wszolek, Owen A Ross, Dennis W Dickson, Neill R Graff-Radford, David Knopman, Rosa Rademakers, Afina W Lemstra, Yolande AL Pijnenburg, Philip Scheltens, Thomas Gasser, Patrick F Chinnery, Bernhard Hemmer, Martijn A Huisman, Juan Troncoso, Fermin Moreno, Ellen A Nohr, Thorkild IA Sørensen, Peter Heutink, Pascual Sánchez-Juan, Danielle Posthuma, GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group G. Coppola AM Karydas A. Varpetian TM Foroud AI Levey WA Kukull MF Mendez J. Ringman H. Chui C. Cotman C. DeCarli BL Miller DH Geschwind, Jordi Clarimón, Kaare Christensen, Nilüfer Ertekin-Taner, Sonja W Scholz, Alfredo Ramirez, Agustín Ruiz, Eline Slagboom, Wiesje M van der Flier, Henne Holstege
发表日期
2019/8/1
期刊
Acta neuropathologica
卷号
138
页码范围
237-250
出版商
Springer Berlin Heidelberg
简介
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 …
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