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  • X-chromosome-wide association study for Alzheimer’s disease

    Julie Le Borgne # 1, Lissette Gomez # 2, Sami Heikkinen 3, Najaf Amin 4, Shahzad Ahmad 5, Seung Hoan Choi 6, Joshua Bis 7, Benjamin Grenier-Boley 1, Omar Garcia Rodriguez 2, Luca Kleineidam 8 9, Juan Young 2, Kumar Parijat Tripathi 10, Lily Wang 11, Achintya Varma 2, Rafael Campos-Martin 10, Sven van der Lee 12 13, Vincent Damotte 1, Itziar de Rojas 14 15, Sagnik Palmal 1; EADB, GR@ACE, DEGESCO, EADI, GERAD, DemGene, FinnGen, ADGC, CHARGE; Richard Lipton 16, Eric Reiman 17 18 19 20, Ann McKee 21 22, Philip De Jager 23 24, William Bush 25, Scott Small 26 27, Allan Levey 28, Andrew Saykin 29 30, Tatiana Foroud 30, Marilyn Albert 31, Bradley Hyman 32, Ronald Petersen 33, Steven Younkin 34, Mary Sano 35, Thomas Wisniewski 36 37, Robert Vassar 38 39, Julie Schneider 40 41 42, Victor Henderson 43 44, Erik Roberson 45, Charles DeCarli 46, Frank LaFerla 47, James Brewer 48, Russell Swerdlow 49, Linda Van Eldik 50, Kara Hamilton-Nelson 2, Henry Paulson 51, Adam Naj 52, Oscar Lopez 53, Helena Chui 54, Paul Crane 55, Thomas Grabowski 56 57, Walter Kukull 58, Sanjay Asthana 59 60 61, Suzanne Craft 62, Stephen Strittmatter 63, Carlos Cruchaga 64, James Leverenz 65, Alison Goate 66, M Ilyas Kamboh 53 67, Peter St George-Hyslop 68 69, Otto Valladares 52, Amanda Kuzma 52, Laura Cantwell 52, Matthias Riemenschneider 70, John Morris 71 72, Susan Slifer 2, Carolina Dalmasso 10 73, Atahualpa Castillo 74, Fahri Küçükali 75 76, Oliver Peters 77 78, Anja Schneider 9 79, Martin Dichgans 80 81 82, Dan Rujescu 83, Norbert Scherbaum 84, Jürgen Deckert 85, Steffi Riedel-Heller 86, Lucrezia Hausner 87, Laura Molina-Porcel 88 89, Emrah Düzel 90 91, Timo Grimmer 92, Jens Wiltfang 93 94 95, Stefanie Heilmann-Heimbach 96, Susanne Moebus 97, Thomas Tegos 98, Nikolaos Scarmeas 99 100, Oriol Dols-Icardo 15 101, Fermin Moreno 15 102 103, Jordi Pérez-Tur 15 104 105, María J Bullido 15 106 107 108, Pau Pastor 109 110, Raquel Sánchez-Valle 111, Victoria Álvarez 112 113, Mercè Boada 14 15, Pablo García-González 14, Raquel Puerta 14, Pablo Mir 15 114, Luis M Real 115 116, Gerard Piñol-Ripoll 117 118, Jose María García-Alberca 15 119, Jose Luís Royo 116, Eloy Rodriguez-Rodriguez 15 120, Hilkka Soininen 121, Alexandre de Mendonça 122, Shima Mehrabian 123, Latchezar Traykov 123, Jakub Hort 124, Martin Vyhnalek 124, Jesper Qvist Thomassen 125, Yolande A L Pijnenburg 12, Henne Holstege 12 126, John van Swieten 127, Inez Ramakers 128, Frans Verhey 128, Philip Scheltens 12, Caroline Graff 129, Goran Papenberg 130, Vilmantas Giedraitis 131, Anne Boland 132, Jean-François Deleuze 132, Gael Nicolas 133, Carole Dufouil 134 135, Florence Pasquier 136, Olivier Hanon 137, Stéphanie Debette 138 139, Edna Grünblatt 140 141 142, Julius Popp 143 144 145, Roberta Ghidoni 146, Daniela Galimberti 147 148, Beatrice Arosio 149 150, Patrizia Mecocci 151 152, Vincenzo Solfrizzi 153, Lucilla Parnetti 154, Alessio Squassina 155, Lucio Tremolizzo 156, Barbara Borroni 157 158, Benedetta Nacmias 159 160, Marco Spallazzi 161, Davide Seripa 162, Innocenzo Rainero 163, Antonio Daniele 164 165, Paola Bossù 166, Carlo Masullo 167, Giacomina Rossi 168, Frank Jessen 9 169 170, Victoria Fernandez 14, Patrick Gavin Kehoe 171, Ruth Frikke-Schmidt 125 172, Magda Tsolaki 98 173, Pascual Sánchez-Juan 15 174, Kristel Sleegers 75 76, Martin Ingelsson 131 175 176, Jonathan Haines 177, Lindsay Farrer 21 178 179 180 181, Richard Mayeux 26 182, Li-San Wang 183, Rebecca Sims 74, Anita DeStefano 6, Gerard D Schellenberg 52, Sudha Seshadri 184 185 186, Philippe Amouyel 1, Julie Williams 74 187, Wiesje van der Flier 12, Alfredo Ramirez 8 9 10 188 189, Margaret Pericak-Vance 2 190, Ole A Andreassen 191 192, Cornelia Van Duijn 4 5, Mikko Hiltunen 3, Agustín Ruiz 14 15, Josée Dupuis 6 193, Eden Martin 2 190 194, Jean-Charles Lambert 1, Brian Kunkle 2, Céline Bellenguez

    2024 Dec 4. doi: 10.1038/s41380-024-02838-5. Online ahead of print.

    PMID: 39633006 DOI: 10.1038/s41380-024-02838-5

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    • Association of MGMT and BIN1 genes with Alzheimer’s disease risk across sex and APOE ε4 status.

      Le Borgne J; EADB, GR@ACE, Degesco, EADI, GERAD, DemGene; Amouyel P, Andreassen O, Frikke-Schmidt R, Hiltunen M, Ingelsson M, Ramirez A, Rossi G, Ruiz A, Sanchez-Juan P, Sims R, Sleegers K, Tsolaki M, van der Lee SJ, Williams J, Lambert JC, Bellenguez C.

      Alzheimers Dement. 2024 Mar;20(3):2282-2284. doi: 10.1002/alz.13550. Epub 2023 Dec 2.

      PMID: 38041824 Free PMC article. No abstract available.

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    • The first genome-wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer’s disease.

      Dalmasso MC, de Rojas I, Olivar N, Muchnik C, Angel B, Gloger S, Sanchez Abalos MS, Chacón MV, Aránguiz R, Orellana P, Cuesta C, Galeano P, Campanelli L, Novack GV, Martinez LE, Medel N, Lisso J, Sevillano Z, Irureta N, Castaño EM, Montrreal L, Thoenes M, Hanses C, Heilmann-Heimbach S, Kairiyama C, Mintz I, Villella I, Rueda F, Romero A, Wukitsevits N, Quiroga I, Gona C, Lambert JC, Solis P, Politis DG, Mangone CA, Gonzalez-Billault C, Boada M, Tàrraga L, Slachevsky A, Albala C, Fuentes P, Kochen S, Brusco LI, Ruiz A, Morelli L, Ramírez A.

      Alzheimers Dement. 2024 Feb;20(2):1298-1308. doi: 10.1002/alz.13522. Epub 2023 Nov 20.

      PMID: 37985413 Free PMC article.

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    • Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes.

      Le Guen Y, Luo G, Ambati A, Damotte V, Jansen I, Yu E, Nicolas A, de Rojas I, Peixoto Leal T, Miyashita A, Bellenguez C, Lian MM, Parveen K, Morizono T, Park H, Grenier-Boley B, Naito T, Küçükali F, Talyansky SD, Yogeshwar SM, Sempere V, Satake W, Alvarez V, Arosio B, Belloy ME, Benussi L, Boland A, Borroni B, Bullido MJ, Caffarra P, Clarimon J, Daniele A, Darling D, Debette S, Deleuze JF, Dichgans M, Dufouil C, During E, Düzel E, Galimberti D, Garcia-Ribas G, García-Alberca JM, García-González P, Giedraitis V, Goldhardt O, Graff C, Grünblatt E, Hanon O, Hausner L, Heilmann-Heimbach S, Holstege H, Hort J, Jung YJ, Jürgen D, Kern S, Kuulasmaa T, Lee KH, Lin L, Masullo C, Mecocci P, Mehrabian S, de Mendonça A, Boada M, Mir P, Moebus S, Moreno F, Nacmias B, Nicolas G, Niida S, Nordestgaard BG, Papenberg G, Papma J, Parnetti L, Pasquier F, Pastor P, Peters O, Pijnenburg YAL, Piñol-Ripoll G, Popp J, Porcel LM, Puerta R, Pérez-Tur J, Rainero I, Ramakers I, Real LM, Riedel-Heller S, Rodriguez-Rodriguez E, Ross OA, Royo LJ, Rujescu D, Scarmeas N, Scheltens P, Scherbaum N, Schneider A, Seripa D, Skoog I, Solfrizzi V, Spalletta G, Squassina A, van Swieten J, Sánchez-Valle R, Tan EK, Tegos T, Teunissen C, Thomassen JQ, Tremolizzo L, Vyhnalek M, Verhey F, Waern M, Wiltfang J, Zhang J; EADB; GR@ACE study group; DEGESCO consortium; DemGene; EADI; GERAD; Asian Parkinson’s Disease Genetics consortium; Zetterberg H, Blennow K, He Z, Williams J, Amouyel P, Jessen F, Kehoe PG, Andreassen OA, Van Duin C, Tsolaki M, Sánchez-Juan P, Frikke-Schmidt R, Sleegers K, Toda T, Zettergren A, Ingelsson M, Okada Y, Rossi G, Hiltunen M, Gim J, Ozaki K, Sims R, Foo JN, van der Flier W, Ikeuchi T, Ramirez A, Mata I, Ruiz A, Gan-Or Z, Lambert JC, Greicius MD, Mignot E.

      Proc Natl Acad Sci U S A. 2023 Sep 5;120(36):e2302720120. doi: 10.1073/pnas.2302720120. Epub 2023 Aug 29.

      PMID: 37643212 Free PMC article.

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    • Genetic Associations Between Modifiable Risk Factors and Alzheimer Disease.

      European Alzheimer’s & Dementia Biobank Mendelian Randomization (EADB-MR) Collaboration; Luo J, Thomassen JQ, Bellenguez C, Grenier-Boley B, de Rojas I, Castillo A, Parveen K, Küçükali F, Nicolas A, Peters O, Schneider A, Dichgans M, Rujescu D, Scherbaum N, Jürgen D, Riedel-Heller S, Hausner L, Porcel LM, Düzel E, Grimmer T, Wiltfang J, Heilmann-Heimbach S, Moebus S, Tegos T, Scarmeas N, Clarimon J, Moreno F, Pérez-Tur J, Bullido MJ, Pastor P, Sánchez-Valle R, Álvarez V, Boada M, García-González P, Puerta R, Mir P, Real LM, Piñol-Ripoll G, García-Alberca JM, Royo JL, Rodriguez-Rodriguez E, Soininen H, Kuulasmaa T, de Mendonça A, Mehrabian S, Hort J, Vyhnalek M, van der Lee S, Graff C, Papenberg G, Giedraitis V, Boland A, Bacq-Daian D, Deleuze JF, Nicolas G, Dufouil C, Pasquier F, Hanon O, Debette S, Grünblatt E, Popp J, Benussi L, Galimberti D, Arosio B, Mecocci P, Solfrizzi V, Parnetti L, Squassina A, Tremolizzo L, Borroni B, Nacmias B, Sorbi S, Caffarra P, Seripa D, Rainero I, Daniele A, Masullo C, Spalletta G, Williams J, Amouyel P, Jessen F, Kehoe P, Tsolaki M, Rossi G, Sánchez-Juan P, Sleegers K, Ingelsson M, Andreassen OA, Hiltunen M, Van Duijn C, Sims R, van der Flier W, Ruiz A, Ramirez A, Lambert JC, Frikke-Schmidt R.

      JAMA Netw Open. 2023 May 1;6(5):e2313734. doi: 10.1001/jamanetworkopen.2023.13734.

      PMID: 37195665 Free PMC article.

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    • Mendelian Randomisation Confirms the Role of Y-Chromosome Loss in Alzheimer’s Disease Aetiopathogenesis in Men.

      García-González P, de Rojas I, Moreno-Grau S, Montrreal L, Puerta R, Alarcón-Martín E, Quintela I, Orellana A, Andrade V, Adami PVM, Heilmann-Heimbach S, Gomez-Garre P, Periñán MT, Alvarez I, Diez-Fairen M, Nuñez Llaves R, Olivé Roig C, Garcia-Ribas G, Menéndez-González M, Martínez C, Aguilar M, Buongiorno M, Franco-Macías E, Saez ME, Cano A, Bullido MJ, Real LM, Rodríguez-Rodríguez E, Royo JL, Álvarez V, Pastor P, Piñol-Ripoll G, Mir P, Lara MC, Padilla MM, Sánchez-Juan P, Carracedo A, Valero S, Hernandez I, Tàrraga L, Ramirez A, Boada M, Ruiz A.

      Int J Mol Sci. 2023 Jan 4;24(2):898. doi: 10.3390/ijms24020898.

      PMID: 36674414 Free PMC article.

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    • Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease.

      Holstege H, Hulsman M, Charbonnier C, Grenier-Boley B, Quenez O, Grozeva D, van Rooij JGJ, Sims R, Ahmad S, Amin N, Norsworthy PJ, Dols-Icardo O, Hummerich H, Kawalia A, Amouyel P, Beecham GW, Berr C, Bis JC, Boland A, Bossù P, Bouwman F, Bras J, Campion D, Cochran JN, Daniele A, Dartigues JF, Debette S, Deleuze JF, Denning N, DeStefano AL, Farrer LA, Fernández MV, Fox NC, Galimberti D, Genin E, Gille JJP, Le Guen Y, Guerreiro R, Haines JL, Holmes C, Ikram MA, Ikram MK, Jansen IE, Kraaij R, Lathrop M, Lemstra AW, Lleó A, Luckcuck L, Mannens MMAM, Marshall R, Martin ER, Masullo C, Mayeux R, Mecocci P, Meggy A, Mol MO, Morgan K, Myers RM, Nacmias B, Naj AC, Napolioni V, Pasquier F, Pastor P, Pericak-Vance MA, Raybould R, Redon R, Reinders MJT, Richard AC, Riedel-Heller SG, Rivadeneira F, Rousseau S, Ryan NS, Saad S, Sanchez-Juan P, Schellenberg GD, Scheltens P, Schott JM, Seripa D, Seshadri S, Sie D, Sistermans EA, Sorbi S, van Spaendonk R, Spalletta G, Tesi N, Tijms B, Uitterlinden AG, van der Lee SJ, Visser PJ, Wagner M, Wallon D, Wang LS, Zarea A, Clarimon J, van Swieten JC, Greicius MD, Yokoyama JS, Cruchaga C, Hardy J, Ramirez A, Mead S, van der Flier WM, van Duijn CM, Williams J, Nicolas G, Bellenguez C, Lambert JC.

      Nat Genet. 2022 Dec;54(12):1786-1794. doi: 10.1038/s41588-022-01208-7. Epub 2022 Nov 21.

      PMID: 36411364 Free PMC article.

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    • Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers.

      Jansen IE, van der Lee SJ, Gomez-Fonseca D, de Rojas I, Dalmasso MC, Grenier-Boley B, Zettergren A, Mishra A, Ali M, Andrade V, Bellenguez C, Kleineidam L, Küçükali F, Sung YJ, Tesí N, Vromen EM, Wightman DP, Alcolea D, Alegret M, Alvarez I, Amouyel P, Athanasiu L, Bahrami S, Bailly H, Belbin O, Bergh S, Bertram L, Biessels GJ, Blennow K, Blesa R, Boada M, Boland A, Buerger K, Carracedo Á, Cervera-Carles L, Chene G, Claassen JAHR, Debette S, Deleuze JF, de Deyn PP, Diehl-Schmid J, Djurovic S, Dols-Icardo O, Dufouil C, Duron E, Düzel E; EADB consortium; Fladby T, Fortea J, Frölich L, García-González P, Garcia-Martinez M, Giegling I, Goldhardt O, Gobom J, Grimmer T, Haapasalo A, Hampel H, Hanon O, Hausner L, Heilmann-Heimbach S, Helisalmi S, Heneka MT, Hernández I, Herukka SK, Holstege H, Jarholm J, Kern S, Knapskog AB, Koivisto AM, Kornhuber J, Kuulasmaa T, Lage C, Laske C, Leinonen V, Lewczuk P, Lleó A, de Munain AL, Lopez-Garcia S, Maier W, Marquié M, Mol MO, Montrreal L, Moreno F, Moreno-Grau S, Nicolas G, Nöthen MM, Orellana A, Pålhaugen L, Papma JM, Pasquier F, Perneczky R, Peters O, Pijnenburg YAL, Popp J, Posthuma D, Pozueta A, Priller J, Puerta R, Quintela I, Ramakers I, Rodriguez-Rodriguez E, Rujescu D, Saltvedt I, Sanchez-Juan P, Scheltens P, Scherbaum N, Schmid M, Schneider A, Selbæk G, Selnes P, Shadrin A, Skoog I, Soininen H, Tárraga L, Teipel S; GR@ACE study group; Tijms B, Tsolaki M, Van Broeckhoven C, Van Dongen J, van Swieten JC, Vandenberghe R, Vidal JS, Visser PJ, Vogelgsang J, Waern M, Wagner M, Wiltfang J, Wittens MMJ, Zetterberg H, Zulaica M, van Duijn CM, Bjerke M, Engelborghs S, Jessen F, Teunissen CE, Pastor P, Hiltunen M, Ingelsson M, Andreassen OA, Clarimón J, Sleegers K, Ruiz A, Ramirez A, Cruchaga C, Lambert JC, van der Flier W.

      Acta Neuropathol. 2022 Nov;144(5):821-842. doi: 10.1007/s00401-022-02454-z. Epub 2022 Sep 6.

      PMID: 36066633 Free PMC article.

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    • Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease.

      Le Guen Y, Belloy ME, Grenier-Boley B, de Rojas I, Castillo-Morales A, Jansen I, Nicolas A, Bellenguez C, Dalmasso C, Küçükali F, Eger SJ, Rasmussen KL, Thomassen JQ, Deleuze JF, He Z, Napolioni V, Amouyel P, Jessen F, Kehoe PG, van Duijn C, Tsolaki M, Sánchez-Juan P, Sleegers K, Ingelsson M, Rossi G, Hiltunen M, Sims R, van der Flier WM, Ramirez A, Andreassen OA, Frikke-Schmidt R, Williams J, Ruiz A, Lambert JC, Greicius MD; Members of the EADB, GR@ACE, DEGESCO, DemGene, GERAD, and EADI Groups; Arosio B, Benussi L, Boland A, Borroni B, Caffarra P, Daian D, Daniele A, Debette S, Dufouil C, Düzel E, Galimberti D, Giedraitis V, Grimmer T, Graff C, Grünblatt E, Hanon O, Hausner L, Heilmann-Heimbach S, Holstege H, Hort J, Jürgen D, Kuulasmaa T, van der Lugt A, Masullo C, Mecocci P, Mehrabian S, de Mendonça A, Moebus S, Nacmias B, Nicolas G, Olaso R, Papenberg G, Parnetti L, Pasquier F, Peters O, Pijnenburg YAL, Popp J, Rainero I, Ramakers I, Riedel-Heller S, Scarmeas N, Scheltens P, Scherbaum N, Schneider A, Seripa D, Soininen H, Solfrizzi V, Spalletta G, Squassina A, van Swieten J, Tegos TJ, Tremolizzo L, Verhey F, Vyhnalek M, Wiltfang J, Boada M, García-González P, Puerta R, Real LM, Álvarez V, Bullido MJ, Clarimon J, García-Alberca JM, Mir P, Moreno F, Pastor P, Piñol-Ripoll G, Molina-Porcel L, Pérez-Tur J, Rodríguez-Rodríguez E, Royo JL, Sánchez-Valle R, Dichgans M, Rujescu D.

      JAMA Neurol. 2022 Jul 1;79(7):652-663. doi: 10.1001/jamaneurol.2022.1166.

      PMID: 35639372 Free PMC article.

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    • New insights into the genetic etiology of Alzheimer’s disease and related dementias.

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      PMID: 35379992 Free PMC article.

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