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

J. van der Lee, Sven; (Alzheimer Disease European DNA biobank), EADB; (Risk and Modifying factors in Fronto-Temporal Dementia), RiMod-FTD; Brain Bank, Netherlands; GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group, The; J. Conway, Olivia; E. Jansen, Iris; M. Carrasquillo, Minerva; Kleineidam, Luca; B. van den Akker, Erik; Hernández, Isabel; R. van Eijk, Kristel; Stringa, Najada; Chen, Jason; Zettergren, Anna; F. M. Andlauer, Till; Díez-Fairén, Mónica; Simón‐Sánchez, Javier; Lleó, Alberto; Zetterberg, Henrik; Nygaard, Marianne; Blauwendraat, Cornelis; E. Savage, Jeanne; Mengel‐From, Jonas; Moreno–Grau, Sonia; Wagner, Michael; Fortea, Juan; J. Keogh, Michael; Blennow, Kaj; Skoog, Ingmar; A. Friese, Manuel; Pletnikova, Olga; Zulaica, Miren; Lage, Carmen; de Rojas, Itziar; G. Riedel‐Heller, Steffi; Illán‐Gala, Ignacio; Wei, Wei; Jeune, Bernard; Orellana, Adelina; Then Bergh, Florian; Wang, Xue; Hulsman, Marc; Beker, Nina; Tesi, Niccoló; M. Morris, Christopher; Indakoetxea, Begoña; E. Collij, Lyduine; Scherer, Martin; Morenas‐Rodríguez, Estrella; W. Ironside, James; N.M. van Berckel, Bart; Alcolea, Daniel; Wiendl, Heinz; L. Strickland, Samantha; Pástor, Pau; Rodríguez‐Rodríguez, Eloy; F. Boeve, Bradley; C. Petersen, Ronald; J. Ferman, Tanis; A. van Gerpen, Jay; Reinders, Marcel; J. Uitti, Ryan; Tárraga, Lluís; Maier, Wolfgang; Dols‐Icardo, Oriol; Kawalia, Amit; Dalmasso, Carolina; Boada, Merçé; K. Zettl, Uwe; M. van Schoor, Natasja; Beekman, Marian; Allen, Mariet; Masliah, Eliezer; López de Munain, Adolfo; Pantelyat, Alexander; K. Wszołek, Zbigniew; A. Ross, Owen; W. Dickson, Dennis; Graff, Caroline; S. Knopman, David; Rademakers, Rosa; W. Lemstra, Afina; A.L. Pijnenburg, Yolande; Scheltens, Philip; Gasser, Thomas; F. Chinnery, Patrick; Hemmer, Bernhard; Huisman, Martijn; C. Troncoso, Juan; Moreno, Fermín; A. Nøhr, Ellen; I. A. Sørensen, Thorkild; Heutink, Peter; Sánchez‐Juan, Pascual; Posthuma, Daniëlle; Clarimón, Jordi; Christensen, Kaare; Ertekin‐Taner, Nilüfer; W. Scholz, Sonja; Ramı́rez, Alfredo; Ruiz, Agustı́n; Eline Slagboom, P.; M. van der Flier, Wiesje; Holstege, Henne

doi:10.1007/s00401-019-02026-8

Public

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

Published in Acta Neuropathologica • May 26, 2019

Authors:

Sven J. van der Lee

EADB (Alzheimer Disease European DNA biobank)

RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia)

Abstract

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 stud...

Subject

Dementia with Lewy bodies

Dementia

Frontotemporal dementia

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