Article
Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease.
JAMA neurology - 1 Jul 2022
Le Guen Yann, Belloy Michael E, Grenier-Boley Benjamin, de Rojas Itziar, Castillo-Morales Atahualpa, Jansen Iris, Nicolas Aude, Bellenguez Céline, Dalmasso Carolina, Küçükali Fahri, Eger Sarah J, Rasmussen Katrine Laura, Thomassen Jesper Qvist, Deleuze Jean-François, He Zihuai, Napolioni Valerio, Amouyel Philippe, Jessen Frank, Kehoe Patrick G, van Duijn Cornelia, Tsolaki Magda, Sánchez-Juan Pascual, Sleegers Kristel, Ingelsson Martin, Rossi Giacomina, Hiltunen Mikko, Sims Rebecca, van der Flier Wiesje M, Ramirez Alfredo, Andreassen Ole A, Frikke-Schmidt Ruth, Williams Julie, Ruiz Agustín, Lambert Jean-Charles, Greicius Michael D, Arosio Beatrice, Benussi Luisa, Boland Anne, Borroni Barbara, Caffarra Paolo, Daian Delphine, Daniele Antonio, Debette Stéphanie, Dufouil Carole, Düzel Emrah, Galimberti Daniela, Giedraitis Vilmantas, Grimmer Timo, Graff Caroline, Grünblatt Edna, Hanon Olivier, Hausner Lucrezia, Heilmann-Heimbach Stefanie, Holstege Henne, Hort Jakub, Jürgen Deckert, Kuulasmaa Teemu, van der Lugt Aad, Masullo Carlo, Mecocci Patrizia, Mehrabian Shima, de Mendonça Alexandre, Moebus Susanne, Nacmias Benedetta, Nicolas Gael, Olaso Robert, Papenberg Goran, Parnetti Lucilla, Pasquier Florence, Peters Oliver, Pijnenburg Yolande A L, Popp Julius, Rainero Innocenzo, Ramakers Inez, Riedel-Heller Steffi, Scarmeas Nikolaos, Scheltens Philip, Scherbaum Norbert, Schneider Anja, Seripa Davide, Soininen Hilkka, Solfrizzi Vincenzo, Spalletta Gianfranco, Squassina Alessio, van Swieten John, Tegos Thomas J, Tremolizzo Lucio, Verhey Frans, Vyhnalek Martin, Wiltfang Jens, Boada Mercè, García-González Pablo, Puerta Raquel, Real Luis M, Álvarez Victoria, Bullido María J, Clarimon Jordi, García-Alberca José María, Mir Pablo, Moreno Fermin, Pastor Pau, Piñol-Ripoll Gerard, Molina-Porcel Laura, Pérez-Tur Jordi, Rodríguez-Rodríguez Eloy, Royo Jose Luís, Sánchez-Valle Raquel, Dichgans Martin, Rujescu Dan
Abstract excerpt
Importance: The APOE ε2 and APOE ε4 alleles are the strongest protective and risk-increasing, respectively, genetic variants for late-onset Alzheimer disease (AD). However, the mechanisms linking APOE to AD-particularly the apoE protein's role in AD pathogenesis and how this is affected by APOE variants-remain poorly understood. Identifying missense variants in addition to APOE ε2 and APOE ε4 could provide...