54 research outputs found
TIPO E MODO RESPIRATÓRIO DE FUTUROS PROFISSIONAIS DA VOZ
- Author
- Publication venue
- 'Universidad Federal de Santa Maria'
- Publication date
- 30/07/2013
- Field of study
http://dx.doi.org/10.5902/223658346930Objetivo: verificar o tipo e o modo respiratório de futuros profissionais da voz de ambos os sexos. Métodos: 62 sujeitos, entre 18 e 35 anos (12 homens e 50 mulheres), avaliados através da escala vocal perceptivoauditiva RASATI, com cálculo de confiabilidade; avaliação do tipo e modo respiratório durante a fala e em repouso. Análise estatística com os testes binomial e qui-quadrado. Resultados: A maioria significativa dos sujeitos foi composta por mulheres, não houve diferença significativa comparando-se as variáveis estudadas em relação aos sexos. A maioria significativa apresentou tipo respiratório misto em repouso e durante a fala, e modo respiratório nasal em repouso e oronasal durante a fala. Conclusão: A maioria dos sujeitos apresentou modo respiratório adequado, porém, tipo respiratório misto. Este é inadequado à grande demanda vocal, sugerindo que seja um aspecto a ser trabalhado com futuros profissionais da voz para evitar possíveis disfonias
Sintomas vocais de futuros profissionais da voz
- Author
- Araujo TM
- Aydos BRS
- Azevedo GPGC
- Behlau M
- Behlau M
- Behlau M
- Behlau M
- Branski RC
- Carla Aparecida Cielo
- Carla Franco Hoffmann
- Carmo RD
- Choi-Cardim K
- Cunha MGB
- Dassie-Leite AP
- Deary IJ
- Deary IJ
- Ferreira LP
- Ferreira LP
- Ferreira LP
- Fuess VLR
- Kasama ST
- Kurtz LO
- Miranda CCI
- Moreti F
- Moreti F
- Musial PL
- Pena JJ
- Penteado RZ
- Putnoki DS
- Ribeiro VV
- Rocha TF
- Santana MCCP
- Servilha E
- Servilha EAM
- Servilha EAM
- Simberg S
- Sodersten M
- Vanessa Veis Ribeiro
- Vianello L
- Vieira AC
- Wilson JA
- Ziegler A
- Publication venue
- 'FapUNIFESP (SciELO)'
- Publication date
- Field of study
Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
- Author
- Aarsland Dag
- Abdelnour Carla
- Alarcón-Martín Emilio
- Alcolea Daniel
- Alegret Montserrat
- Alvarez Ignacio
- Anastasiou Anna
- Anastasiou Costas
- Andrade Victor
- Antonell Anna
- Antúnez Carmen
- Appollonio Ildebrando
- Arcaro Marina
- Archetti Silvana
- Arias Pastor Alfonso
- Armstrong Nicola J.
- Arosio Beatrice
- Bailly Henri
- Banaj Nerisa
- Baquero Miquel
- Belezhanska Diyana
- Bellenguez Céline
- Benaque Alba
- Benussi Alberto
- Benussi Luisa
- Bernal Sánchez-Arjona María
- Besse Céline
- Bessi Valentina
- Binetti Giuliano
- Bis Joshua C.
- Bizzarro Alessandra
- Blesa Rafael
- Boerwinkle Eric
- Boland Anne
- Borroni Barbara
- Boschi Silvia
- Bossù Paola
- Botne Sando Sigrid
- Buerger Katharina
- Buiza-Rueda Dolores
- Caffarra Paolo
- Calero Miguel
- Castaño Eduardo M.
- Cecchetti Roberta
- Cervera-Carles Laura
- Charbonnier Camille
- Chillotti Caterina
- Chipi Elena
- Chêne Geneviève
- Ciccone Simona
- Clark Christopher
- Conti Elisa
- contributors EADB
- Corbatón-Anchuelo Arturo
- Corma-Gómez Anaïs
- Costantini Emanuele
- Craig David
- Cuesta Carolina
- Custodero Carlo
- Daian Delphine
- Dalmasso Maria Carolina
- Daniele Antonio
- Dardiotis Efthimios
- de Mendonça Alexandre
- De Roeck Ellen
- de Rojas Itziar
- Deckert Jürgen
- del Ser Teodoro
- Deniz-Naranjo M. Candida
- Deramecourt Vincent
- DeStefano Anita L.
- Dichgans Martin
- Diehl-Schmid Janine
- Diez-Fairen Mónica
- Dionigi Rossi Paolo
- Djurovic Srdjan
- Dufouil Carole
- Duron Emmanuelle
- Düzel Emrah
- Engelborghs Sebastiaan
- Escott-Price Valentina
- Esiri Margaret
- Espinosa Ana
- Ewers Michael
- Farotti Lucia
- Farrer Lindsay A.
- Fenoglio Chiara
- Fernández-Fuertes Marta
- Ferrarese Carlo
- Ferrari Camilla
- Ferreira Catarina B.
- Ferri Evelyn
- Fin Bertrand
- Fischer Peter
- Fließbach Klaus
- Fornage Myriam
- Fortea Juan
- Fostinelli Silvia
- Franco-Macías Emilio
- Frank-García Ana
- Frikke-Schmidt Ruth
- Froelich Lutz
- Galimberti Daniela
- García-González Pablo
- García-Madrona Sebastián
- Gelpi Ellen
- Ghidoni Roberta
- Giaccone Giorgio
- Giedraitis Vilmantas
- Giegling Ina
- Gil Silvia
- Goldhardt Oliver
- González-Perez Antonio
- Graff Caroline
- Grande Giulia
- Greco Antonio
- Grenier-Boley Benjamin
- Grimmer Timo
- Grünblatt Edna
- Haapasalo Annakaisa
- Hadjigeorgiou Georgios
- Haines Jonathan L.
- Hampel Harald
- Hanon Oliver
- Hartmann Annette M.
- Hausner Lucrezia
- Heilmann-Heimbach Stefanie
- Helisalmi Seppo
- Heneka Michael T.
- Hernández Isabel
- Herrmann Martin J.
- Hiltunen Mikko
- Hoffmann Per
- Holmans Peter A.
- Holmes Clive
- Hort Jakub
- Huerto Vilas Raquel
- Hulsman Marc
- Hägg Sara
- Ikram M. Arfan
- Ingelsson Martin
- Ingino Carlos
- Janowitz Daniel
- Jansen Iris E.
- Jessen Frank
- Jian Xueqiu
- Joachim Catharine
- Johansson Charlotte
- Jürgen Deckert
- Kalaria Rajesh N.
- Karlsson Ida K.
- Kern Silke
- Kilander Lena
- Kinhult Ståhlbom Anne
- Kivipelto Miia
- Kleineidam Luca
- Kohler Eduardo
- Koivisto Anne
- Kok Almar A. L.
- Kornhuber Johannes
- Kosmidis Mary H.
- Koutsouraki Effrosyni
- Kunkle Brian W.
- Kuulasmaa Teemu
- Küçükali Fahri
- Lage Carmen
- Laske Christoph
- Lauria Alessandra
- Lebouvier Thibaud
- Lehtisalo Jenni
- Lemstra Afina W.
- Lerch Ondrej
- Löwenmark Malin
- MacLeod Catherine
- Macías Juan
- Maier Wolfgang
- Mangialasche Francesca
- Mangone Carlos
- Mann David M.
- Marianthi Arnaoutoglou
- Marshall Rachel
- Martín Montes Angel
- Martínez Rodríguez Carmen
- Martínez Carmen
- Martínez-Larrad María Teresa
- Masullo Carlo
- Mayeux Richard
- McGuinness Bernadette
- Mead Simon
- Meggy Alun
- Mendoza Silvia
- Menéndez-González Manuel
- Molina-Porcel Laura
- Montrreal Laura
- Moreno Fermin
- Moreno-Grau Sonia
- Morgan Kevin
- Muchnik Carolina
- Muñoz-Fernandez Carmen
- Nacmias Benedetta
- Naj Adam C.
- Neary David
- Ngandu Tiia
- Nicolas Gaël
- Nordestgaard Børge G.
- Nöthen Markus M.
- Ortega Gemma
- Ortiz Cecilia
- Padovani Alessandro
- Palacio Dana Lis
- Papenberg Goran
- Parnetti Lucilla
- Pasquier Florence
- Pastor Ana Belén
- Pedersen Nancy L.
- Pericak-Vance Margaret A.
- Peters Oliver
- Pijnenburg Yolande A. L.
- Pineda Juan A.
- Pisanu Claudia
- Polak Thomas
- Politis Daniel G.
- Popp Julius
- Pérez-Cordón Alba
- Quenez Olivier
- Quintela Inés
- Rainero Innocenzo
- Reyes Toso Carlos
- Reynolds Chandra A.
- Richardson Anna
- Riedel-Heller Steffi
- Riederer Peter
- Roberto Natalia
- Rodriguez-Rodriguez Eloy
- Rongve Arvid
- Rosas Allende Irene
- Rosende-Roca Maitée
- Rossi Giacomina
- Royo Jose Luís
- Rubino Elisa
- Rujescu Dan
- Rábano Alberto
- Saenz Aldo
- Sakka Paraskevi
- Saltvedt Ingvild
- Sanabria Ángela
- Sanchez-Garcia Florentino
- Satizabal Claudia L.
- Scamosci Michela
- Scarmeas Nikolaos
- Scarpini Elio
- Scherbaum Norbert
- Scherer Martin
- Schmid Matthias
- Schneider Anja
- Seidu Nazib M.
- Selbæk Geir
- Seripa Davide
- Sims Rebecca
- Skoog Ingmar
- Skrobot Olivia Anna
- Sleegers Kristel
- Smith A. David
- Soininen Hilkka
- Solomon Alina
- Sorbi Sandro
- Sotolongo-Grau Oscar
- Spallazzi Marco
- Spalletta Gianfranco
- Spottke Annika
- Squassina Alessio
- Stringa Najada
- Tagliavini Fabrizio
- Tankard Rick M.
- Tesi Niccolo
- Thomassen Jesper Qvist
- Tremolizzo Lucio
- Tsolaki Magda
- Tybjærg-Hansen Anne
- Ullgren Abbe
- Vacca Alessandro
- Valero Sergi
- Van Broeckhoven Christine
- Van Dongen Jasper
- van Schoor Natasja M.
- Vandenberghe Rik
- Vardy Emma R. L. C.
- Vidal Jean-Sebastien
- Vogelgsang Jonathan
- Vyhnalek Martin
- Wagner Michael
- Wallon David
- Wang Li-San
- Weinhold Leonie
- Wiltfang Jens
- Windle Gill
- Woods Bob
- Yang Qiong
- Yannakoulia Mary
- Zetterberg Henrik
- Zettergren Anna
- Zoia Chiara Paola
- Zulaica Miren
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2021
- Field of study
Funder: Funder: Fundación bancaria ‘La Caixa’ Number: LCF/PR/PR16/51110003 Funder: Grifols SA Number: LCF/PR/PR16/51110003 Funder: European Union/EFPIA Innovative Medicines Initiative Joint Number: 115975 Funder: JPco-fuND FP-829-029 Number: 733051061Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer's disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer's disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer's disease
Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs
- Author
- Abe-jones Yumiko
- Abel Laurent
- Abel Laurent
- Abel Laurent
- Abolhassani Hassan
- Abou Tayoun Ahmad
- Achille Cristian
- Ailioaie Oana
- Aiuti Alessandro
- Al-muhsen Saleh
- Al-mulla Fahd
- Aliberti Anna
- Allavena Clotilde
- Allende Luis M.
- Altamirano Luz Torres
- Anderson Mark S.
- Anderson Mark S.
- Andreakos Evangelos
- Andreakos Evangelos
- Andrejak Claire
- Angelini Micol
- Angoulvant François
- Antolí Arnau
- Arias Andrés A.
- Arroyo-sánchez Daniel
- Asthana Saurabh
- Aytekin Gokhan
- Azoulay Cecile
- Bachelet Delphine
- Bair Rebecca
- Bal Antonin
- Baldanti Fausto
- Bartoli Marie
- Basmaci Romain
- Bastard Paul
- Behilill Sylvie
- Belot Alexandre
- Belot Alexandre
- Beluze Marine
- Benech Nicolas
- Benkerrou Dehbia
- Bergami Federica
- Bezzi Michela
- Bhavsar Krishna
- Bhide Sharvari
- Biggs Catherine M.
- Bitker Laurent
- Bizien Lucy
- Bogunovic Dusan
- Bolze Alexandre
- Bompoil Thierry
- Bondarenko Anastasia
- Bondarenko Anastasiia
- Borghesi Alessandro
- Bouadma Lila
- Bouscambert Maude
- Bousfiha Ahmed A.
- Boutboul David
- Boyarchuk Oksana
- Brodin Petter
- Bryceson Yenan
- Burrel Sonia
- Bustamante Carlos D.
- Butte Manish J.
- Calfee Carolyn S.
- Carrillo Sidney A.
- Casanova Jean-laurent
- Casari Giorgio
- Cassaniti Irene
- Catherinot Emilie
- Cervantes-gonzalez Minerva
- Chair Anissa
- Chak Suzanna
- Chirouze Catherine
- Christodoulou John
- Clément Bénédicte
- Cobat Aurélie
- Coelho Alexandra
- Collins Zachary
- Comet Consortium
- Condino-neto Antonio
- Constantinescu Stefan N.
- Conti Francesca
- Cooper Megan A.
- Cordel Hugues
- Couffignal Camille
- Couffin-cadiergues Sandrine
- Covid Hge Consortium
- Dalgard Clifton L.
- Danielson Jeffrey
- De Diego Rebeca Perez
- De Montmollin Etienne
- Debard Alexa
- Debray Marie-pierre
- Delaunay Clarisse
- Deplanque Dominique
- Derisi Joseph L.
- Desai Murkesh
- Descamps Diane
- Desvallée Mathilde
- Diallo Alpha
- Diehl Jean-luc
- Diouf Alphonsine
- Dorgham Karim
- Dorival Céline
- Drolet Beth A.
- Dubos François
- Duval Xavier
- Duvlis Sotirija
- D’ortenzio Eric
- El Baghdadi Jamila
- Eloy Philippine
- Enouf Vincent
- Epaulard Olivier
- Ergun Dilek
- Ergun Recai
- Erle David J.
- Esperou Hélène
- Espinosa-padilla Sara
- Esposito-farese Marina
- Etienne Manuel
- Fekkar Arnaud
- Feldman Hagit Baris
- Fellay Jacques
- Flores Carlos
- Fragiadakis Gabriela K.
- Franco José Luis
- French Covid Study Group
- Froidure Antoine
- Gagro Alenka
- Garot Denis
- Garzaro Margaux
- Garçon Pierre
- Gault Nathalie
- Gaymard Alexandre
- Gervais Adrian
- Ghale Rajani
- Ghirardello Stefano
- Ghosn Jade
- Gigante Tristan
- Gilg Morgane
- Goehringer François
- Gorochov Guy
- Gregersen Peter K.
- Grimbacher Bodo
- Guedj Jérémie
- Haerynck Filomeen
- Hagin David
- Halwani Rabih
- Halwani Rabih
- Hammarström Lennart
- Hatipoglu Nevin
- Heath James R.
- Hendrickson Carolyn M.
- Henrickson Sarah E.
- Hernu Romain
- Hoctin Alexandre
- Hoffmann Isabelle
- Houas Ikram
- Hsieh Elena W.y.
- Hulot Jean-sébastien
- Husebye Eystein
- Imai Kohsuke
- Imberti Luisa
- Itan Yuval
- Jaafoura Salma
- Jarvis Erich D.
- Jauregui Alejandra
- Jeziorski Eric
- Jouanguy Emmanuelle
- Kafif Ouifiya
- Kaguelidou Florentia
- Kali Sabrina
- Kanat Fikret
- Kangelaris Kirsten N.
- Karamitros Timokratis
- Keles Sevgi
- Keles Sevgi
- Kenney Heather
- Kerroumi Younes
- Khalil Antoine
- Khan Coralie
- Kimmoun Antoine
- Kisand Kai
- Kopcha Vasyl
- Korda Mykhaylo
- Krummel Matthew F.
- Ku Cheng-lung
- Laine Fabrice
- Langelier Charles R.
- Laouenan Cédric
- Laouénan Cédric
- Laribi Samira
- Lau Yu-lung
- Laurie Matthew T.
- Le Bris Cyril
- Le Gac Sylvie
- Le Hingrat Quentin
- Le Mestre Soizic
- Le Nagard Hervé
- Le Turnier Paul
- Le Voyer Tom
- Le Minh
- Lea Tasha
- Lee Deanna
- Leligdowicz Aleksandra
- Lemaignen Adrien
- Lemee Véronique
- Leroux Carolyn
- Lescure François-xavier
- Letrou Sophie
- Levy Yves
- Lhuillier Marine
- Lina Bruno
- Ling Yun
- Lingas Guillaume
- Liu Jamin
- Lota Raphael
- Lucas Carrie L.
- Lucet Jean Christophe
- Machado Moïse
- Mahevas Matthieu
- Malvy Denis
- Mambert Marina
- Maniatis Tom
- Manry Jérémy
- Mansouri Davood
- Manuel Aldric
- Martinez-picado Javier
- Maródi László
- Matthay Michael
- Mentré France
- Meyts Isabelle
- Meziane Amina
- Milner Joshua D.
- Mironska Kristina
- Mitchell Anthea M.
- Mogensen Trine H.
- Mojoli Francesco
- Monneret Guillaume
- Morandeira Francisco
- Morbieu Caroline
- Morio Tomohiro
- Mouquet Hugo
- Mullaert Jimmy
- Nagl Laurenz
- Neant Nadège
- Neuville Mathilde
- Neven Bénédicte
- Ng Lisa F. P.
- Ng Lisa F.p.
- Nguyen Duc
- Nguyen Viet
- Noret Marion
- Notarangelo Luigi D.
- Notarangelo Luigi D.
- Novelli Antonio
- Novelli Antonio
- Novelli Giuseppe
- Novelli Giuseppe
- O'farrelly Cliona
- Okada Satoshi
- Okamoto Keisuke
- Ozcelik Tayfun
- Ozcelik Tayfun
- Pagani Michele
- Pan-hammarström Qiang
- Pan-hammarström Qiang
- Papadopoulos Aurélie
- Pape Jean W.
- Patel Ravi
- Paul Christelle
- Paz Artal Estela
- Paz Pauline Caraux
- Peiffer-smadja Nathan
- Peigne Vincent
- Perani Cristiano
- Perlin David S.
- Pesole Graziano
- Pession Andrea
- Petrov-sanchez Ventzislava
- Peytavin Gilles
- Pham Huong
- Philippot Quentin
- Picone Olivier
- Pierce Logan
- Piquard Valentine
- Piralla Antonio
- Planas Anna M.
- Poissy Julien
- Poulakou Garyphallia
- Prando Carolina
- Prasad Priya
- Puel Anne
- Pujol Aurora
- Pujol Aurora
- Puéchal Oriane
- Quaresima Virginia
- Quintana-murci Lluis
- Raffi François
- Ramaswamy Sathishkumar
- Rao Arjun Arkal
- Rashid Ahmad
- Renia Laurent
- Renia Laurent
- Resnick Igor
- Reyes Luis Felipe
- Rigo-bonnin Raúl
- Rocamora-blanch Gemma
- Rodriguez Nicklaus
- Rodríguez-gallego Carlos
- Rodríguez-gallego Carlos
- Rosa-calatrava Manuel
- Rosain Jérémie
- Rossignol Bénédicte
- Rossignol Patrick
- Roussel Lucie
- Roy Carine
- Rubio Luis
- Sahanic Sabina
- Saker Kahina
- Salagianni Maria
- Samad Bushra
- Sancho-shimizu Vanessa
- Schneider Marion
- Sediva Anna
- Seppänen Mikko R.j.
- Shahrooei Mohammed
- Sharif-askari Narjes Saheb
- Shaw Cole
- Shcherbina Anna
- Sigman Austin
- Siouti Eleni
- Slaby Ondrej
- Snow Andrew L.
- Solanich Xavier
- Soler-palacín Pere
- Sottini Alessandra
- Spaan András N.
- Stepanovskyy Yurii
- Su Richa
- Tancevski Ivan
- Tancevski Ivan
- Tandjaoui-lambiotte Yacine
- Tang Kevin
- Tangye Stuart G.
- Tardivon Coralie
- Teixeira Carla
- Tellier Marie-capucine
- Terrier Olivier
- Thompson Leslie M.
- Timsit Jean-françois
- Trouillet-assant Sophie
- Troya Jesus
- Tual Christelle
- Tubiana Sarah
- Tulek Baykal
- Turvey Stuart E.
- Téoulé François
- Uddin K M Furkan
- Uddin Mohammed
- Van Der Werf Sylvie
- Vanel Noémie
- Vazquez Sara
- Veislinger Aurélie
- Venet Fabienne
- Vinh Donald C.
- Visseaux Benoit
- Volokha Alla
- Wang Chung Yu
- Ward Alyssa
- Weiss Günter
- Wiedemann Aurélie
- Willmore Andrew
- Willmore Andrew
- Wilson Michael
- Wilson Michael R
- Woodruff Prescott G.
- Yazdanpanah Yazdan
- Ye Chun Jimmie
- Zamecnik Colin
- Zhang Qian
- Zhang Shen-ying
- Zhang Yu
- Publication venue
- 'American Association for the Advancement of Science (AAAS)'
- Publication date
- 13/04/2023
- Field of study
Life-threatening `breakthrough' cases of critical COVID-19 are attributed to poor or waning antibody response to the SARS- CoV-2 vaccine in individuals already at risk. Pre-existing autoantibodies (auto-Abs) neutralizing type I IFNs underlie at least 15% of critical COVID-19 pneumonia cases in unvaccinated individuals; however, their contribution to hypoxemic breakthrough cases in vaccinated people remains unknown. Here, we studied a cohort of 48 individuals ( age 20-86 years) who received 2 doses of an mRNA vaccine and developed a breakthrough infection with hypoxemic COVID-19 pneumonia 2 weeks to 4 months later. Antibody levels to the vaccine, neutralization of the virus, and auto- Abs to type I IFNs were measured in the plasma. Forty-two individuals had no known deficiency of B cell immunity and a normal antibody response to the vaccine. Among them, ten (24%) had auto-Abs neutralizing type I IFNs (aged 43-86 years). Eight of these ten patients had auto-Abs neutralizing both IFN-a2 and IFN-., while two neutralized IFN-omega only. No patient neutralized IFN-ss. Seven neutralized 10 ng/mL of type I IFNs, and three 100 pg/mL only. Seven patients neutralized SARS-CoV-2 D614G and the Delta variant (B.1.617.2) efficiently, while one patient neutralized Delta slightly less efficiently. Two of the three patients neutralizing only 100 pg/mL of type I IFNs neutralized both D61G and Delta less efficiently. Despite two mRNA vaccine inoculations and the presence of circulating antibodies capable of neutralizing SARS-CoV-2, auto-Abs neutralizing type I IFNs may underlie a significant proportion of hypoxemic COVID-19 pneumonia cases, highlighting the importance of this particularly vulnerable population
New insights into the genetic etiology of Alzheimer's disease and related dementias
- Author
- Aarsland Dag
- Abdelnour Carla
- ADGC .
- Ahmad Shahzad
- Alarcón-Martín Emilio
- Alcolea Daniel
- Alegret Montserrat
- Allende Irene Rosas
- Alvarez Ignacio
- Amin Najaf
- Amouyel Philippe
- Andrade Victor
- Andreassen Ole A
- Antúnez Carmen
- Appollonio Ildebrando
- Arcaro Marina
- Archetti Silvana
- Armstrong Nicola J
- Arosio Beatrice
- Athanasiu Lavinia
- Bailly Henri
- Banaj Nerisa
- Baquero Miquel
- Barral Sandra
- Beiser Alexa
- Bellenguez Céline
- Below Jennifer E
- Benchek Penelope
- Benussi Luisa
- Berr Claudine
- Besse Céline
- Bessi Valentina
- Biessels Geert Jan
- Binetti Giuliano
- Bis Joshua C
- Bizarro Alessandra
- Blesa Rafael
- Boada Mercè
- Boerwinkle Eric
- Boland Anne
- Borroni Barbara
- Boschi Silvia
- Bossù Paola
- Bresner Catherine
- Bressler Jan
- Brodaty Henry
- Broeckhoven Christine Van
- Brookes Keeley J
- Brusco Luis Ignacio
- Bråthen Geir
- Buiza-Rueda Dolores
- Bullido María J
- Burholt Vanessa
- Bush William S
- Bûrger Katharina
- Calero Miguel
- Campos-Martin Rafael
- Cantwell Laura B
- Carracedo Ángel
- Cecchetti Roberta
- Cervera-Carles Laura
- Chapuis Julien
- Charbonnier Camille
- CHARGE .
- Chen Hung-Hsin
- Chene Geneviève
- Chillotti Caterina
- Chung Jaeyoon
- Ciccone Simona
- Claassen Jurgen AHR
- Clarimon Jordi
- Clark Christopher
- Conti Elisa
- Corma-Gómez Anaïs
- Costa Marcos R
- Costantini Emanuele
- Cuccaro Michael L
- Custodero Carlo
- Daian Delphine
- Dalmasso Maria Carolina
- Damotte Vincent
- Daniele Antonio
- Dardiotis Efthimios
- Dartigues Jean-François
- de Deyn Peter Paul
- de Mendonça Alexandre
- de Munain Adolfo Lopez
- de Paiva Lopes Katia
- de Rojas Itziar
- de Witte Lot D
- Debette Stéphanie
- Deckert Jürgen
- DEGESCO .
- Del Ser Teodoro
- Deleuze Jean-François
- Demgene .
- Denning Nicola
- DeStefano Anita
- Dichgans Martin
- Diehl-Schmid Janine
- Diez-Fairen Mónica
- Djurovic Srdjan
- Dongen Jasper Van
- Dufouil Carole
- Duron Emmanuelle
- Düzel Emrah
- EADB .
- EADI .
- Eiriksdottir Gudny
- Engelborghs Sebastiaan
- Escott-Price Valentina
- Espinosa Ana
- Ewers Michael
- Faber Kelley M
- Fabrizio Tagliavini
- Fardo David W
- Farotti Lucia
- Farrer Lindsay A
- Fenoglio Chiara
- Fernández-Fuertes Marta
- Ferrari Raffaele
- Ferreira Catarina B
- Ferri Evelyn
- Fin Bertrand
- FinnGen .
- Fischer Peter
- Fladby Tormod
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- Galimberti Daniela
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- Garcia-Madrona Sebastian
- Garcia-Ribas Guillermo
- García-Alberca Jose Maria
- García-González Pablo
- GERAD .
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- GR@ACE .
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- Grünblatt Edna
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- Jansen Iris E
- Jessen Frank
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- Juan Pascual Sánchez
- Jun Gyungah R
- Kastumata Yuriko
- Kauwe John
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- Kilander Lena
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- Kosmidis Mary H
- Kuksa Pavel P
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- Mecocci Patrizia
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- Meggy Alun
- Mehrabian Shima
- Mendoza Silvia
- Menéndez-González Manuel
- Mir Pablo
- Moebus Susanne
- Mol Merel
- Molina-Porcel Laura
- Montes Angel Martín
- Montrreal Laura
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- Moreno Fermin
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- Morgan Kevin
- Mosley Thomas
- Muchnik Carolina
- Mukherjee Shubhabrata
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- Nordestgaard Børge G
- Nöthen Markus M
- Olaso Robert
- Orellana Adelina
- Orsini Michela
- Ortega Gemma
- Padovani Alessandro
- Paolo Caffarra
- Papenberg Goran
- Parnetti Lucilla
- Pasquier Florence
- Pastor Alfonso Arias
- Pastor Ana Belén
- Pastor Pau
- Peloso Gina
- Pericak-Vance Margaret A
- Pericard Pierre
- Peters Oliver
- Pijnenburg Yolande AL
- Pineda Juan A
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- Posthuma Danielle
- Priller Josef
- Prokic Ivana
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- Puerta Raquel
- Pérez-Cordón Alba
- Pérez-Tur Jordi
- Quenez Olivier
- Quintela Inés
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- Rajabli Farid
- Ramakers Inez
- Ramirez Alfredo
- Real Luis M
- Reinders Marcel JT
- Reitz Christiane
- Reyes-Dumeyer Dolly
- Ridge Perry
- Riedel-Heller Steffi
- Riederer Peter
- Roberto Natalia
- Rodriguez-Rodriguez Eloy
- Rodríguez Carmen Martínez
- Rongve Arvid
- Rosende-Roca Maitée
- Rossi Giacomina
- Rossi Paolo Dionigi
- Royo Jose Luis
- Rubino Elisa
- Ruiz Agustín
- Rujescu Dan
- Rábano Alberto
- Sachdev Perminder
- Sakka Paraskevi
- Saltvedt Ingvild
- Sanabria Ángela
- Sanchez-Garcia Florentino
- Sando Sigrid B
- Sarnowski Chloé
- Satizabal Claudia L
- Scamosci Michela
- Scarmeas Nikolaos
- Scarpini Elio
- Schellenberg Gerard D
- Scheltens Philip
- Scherbaum Norbert
- Scherer Martin
- Schmid Matthias
- Schneider Anja
- Schott Jonathan M
- Selbæk Geir
- Seripa Davide
- Serrano Manuel
- Seshadri Sudha
- Sha Jin
- Shadrin Alexey A
- Sims Rebecca
- Skrobot Olivia
- Sleegers Kristel
- Slifer Susan
- Snijders Gijsje JL
- Soininen Hilkka
- Solfrizzi Vincenzo
- Solomon Alina
- Song Yeunjoo
- Sorbi Sandro
- Sotolongo-Grau Oscar
- Spallazzi Marco
- Spalletta Gianfranco
- Spottke Annika
- Squassina Alessio
- Stordal Eystein
- Ståhlbom Anne Kinhult
- Sáez María Eugenia
- Sánchez-Arjona María Bernal
- Sánchez-Valle Raquel
- Tartan Juan Pablo
- Tesí Niccolo
- Thalamuthu Anbupalam
- Thomas Tegos
- Thomassen Jesper Qvist
- Tosto Giuseppe
- Traykov Latchezar
- Tremolizzo Lucio
- Tsolaki Anthoula
- Tsolaki Magda
- Tybjærg-Hansen Anne
- Tárraga Lluís
- Uitterlinden Andre
- Ullgren Abbe
- Ulstein Ingun
- Valero Sergi
- Valladares Otto
- van der Flier Wiesje M
- van der Lee Sven J
- van der Lugt Aad
- van Duijn Cornelia M
- van Rooij Jeroen
- van Swieten John
- Vance Jeffery
- Vandenberghe Rik
- Vardarajan Badri N
- Verhey Frans
- Vidal Jean-Sébastien
- Vilas Raquel Huerto
- Vogelgsang Jonathan
- Vyhnalek Martin
- Wagner Michael
- Wallon David
- Wang Li-San
- Wang Ruiqi
- Weinhold Leonie
- Williams Julie
- Wiltfang Jens
- Windle Gill
- Woods Bob
- Yang Qiong
- Yannakoulia Mary
- Yaqub Amber
- Zare Habil
- Zhang Xiaoling
- Zhao Yi
- Zhu Congcong
- Zulaica Miren
- Álvarez Victoria
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/04/2022
- Field of study
Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele
New genetic loci link adipose and insulin biology to body fat distribution.
- Author
- Aalto Ville
- Aasarød Knut
- Abecasis Goncalo R
- Abecasis Gonçalo
- Absher Devin
- Adair Linda S
- Adam Martin
- Adeyemo Adebowale
- Ahlqvist Emma
- Ahmadi Kourosh R
- Ahola Aila
- Ainali Chrysanthi
- Akylbekova Ermeg
- Ala-Korpela Mika
- Alavere Helen
- Albagha Omar M E
- Albrecht Eva
- Alen Markku
- Alexander Myriam
- Alhenc-Gelas François
- Alizadeh Behrooz Z
- Allison Matthew A
- Alonso Nerea
- Altshuler David
- Ambite Jose Luis
- Amin Najaf
- Amouyel Philippe
- An Ping
- Anderson Carl A
- Anderson Denise
- Anderson Garnet
- Andrews Jeanette S
- Antonella Mulas
- Antti Jula
- Aragaki Aaron K
- Arking Dan E
- Arnold Alice
- Arnold Alice M
- Arora Pankaj
- Arscott Gillian M
- Artigas Maria Soler
- Arveiler Dominique
- Asiki Gershim
- Aspelund Thor
- Assimes Themistocles L
- Atalay Mustafa
- Atkinson Elizabeth J
- Aulchenko Yurii
- Avery Christy
- Bain Stephen C
- Bakker Stephan J L
- Balcells Susana
- Balkau Beverley
- Ballantyne Christie M
- Balmforth Anthony J
- Bandinelli Stefania
- Barbalic Maja
- Barrett Amy
- Barroso Ines
- Barroso Inês
- Basart Hanneke
- Basart Hanneke V
- Bataille Veronique
- Baumert Jens
- Beckmann Jacques S
- Beekman Marian
- Been Latonya F
- Beilby John
- Beilby John P
- Bell Jordana T
- Bellis Claire
- Bennett Amanda J
- Bennett Franklyn
- Berenson Gerald S
- Bergman Richard N
- Bergmann Sven
- Berndt Sonja I
- Berne Christian
- Bidulescu Aurelian
- Bielak Lawrence F
- Bierut Laura J
- Biffar Reiner
- Bis Joshua C
- Blackburn Hannah
- Blangero John
- Blankenberg Stefan S
- Blüher Matthias
- Boban Mladen
- Bochud Murielle
- Boehm Bernhard O
- Boehnke Michael
- Boerwinkle Eric
- Boezen H Marike
- Bolton Jennifer L
- Bolton Judith A Hoffman
- Bonnet Fabrice
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- Boomsma Dorret I
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- Borja Judith B
- Bornstein Stefan R
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- Bouchard Claude
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- Bragg-Gresham Jennifer L
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- Brandi Maria Luisa
- Braund Peter S
- Brennan Eoin P
- Brismar Kerstin
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- Broekmans Frank J
- Broer Linda
- Brown Matthew A
- Brown Morris J
- Brown-Gentry Kristin
- Bruinenberg Marcel
- Buchkovich Martin L
- Buckley Brendan M
- Buil Alfonso
- Bull Shelley B
- Burgdorf Christof
- Buring Julie E
- Burnett Mary S
- Burnier Michel
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- Burton Paul R
- Bush William S
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- Cheng Sulin
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- Cho Yoon Shin
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- Heliövaara Markku
- Helmer Catherine
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- Henderson Brian
- Hengstenberg Christian
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- Hercberg Serge
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- Hernandez Dena
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- Herrera Lizbeth
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- Kutalik Zoltan
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- Kuulasmaa Kari
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- Kwan Tony
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- Kyvik Kirsten O
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- Körner Antje
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- Ladenvall Claes
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- Young Lauren
- Yuan Xin
- Zaboli Ghazal
- Zalloua Pierre A
- Zarrabeitia María T
- Zelenika Diana
- Zemunik Tatijana
- Zerbini Gianpaolo
- Zgaga Lina
- Zhai Guangju
- Zhang Feng
- Zhang Qunyuan
- Zhang Weihua
- Zhao Jing Hua
- Zhao Wei
- Zheng Hou-Feng
- Zheng Wei
- Zhou Yanhua
- Zhu Haidong
- Zhu Kun
- Zhu Xiaofeng
- Zhuang Wei V
- Zhuang Wei Vivian
- Ziegler Andreas
- Zillikens M Carola
- Zimmermann Martina E
- Zitting Paavo
- Zondervan Krina T
- Zukowska-Szczechowska Ewa
- Zygmunt Marek
- Ärnlöv Johan
- Österholm Anne-May
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2015
- Field of study
Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms
New insights into the genetic etiology of Alzheimer's disease and related dementias
- Author
- Aaltonen L.
- Aaltonen V.
- Aarsland Dag
- Aavikko M.
- Abalos M.S.
- Abdelnour Carla
- Abner E.
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- Yannakoulia M.
- Yaqub A.
- Younkin S.G.
- Yu C.E.
- Yu L.
- Zare H.
- Zhang X.
- Zhang Y.
- Zhao Y.
- Zhao Y.
- Zhou W.
- Zhu C.
- Zhu X.
- Ziemann A.
- Zoia C.P.
- Zompo M.D.
- Zulaica M.
- Álvarez V.
- Publication venue
- Publication date
- 01/01/2022
- Field of study
Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.
- Author
- Aarsland Dag
- Abdelnour C.
- Abdelnour Carla
- Adarmes-Gomez A.D.
- Alarcon-Martin Emilio
- Alcolea Daniel
- Alegret Montserrat
- Alvarez Ignacio
- Alvarez Victoria
- Amouyel Philippe
- Andrade Victor
- Andreassen Ole A.
- Antonell Anna
- Antunez Carmen
- Appollonio Ildebrando
- Arcaro Marina
- Archetti Silvana
- Arias Pastor Alfonso
- Armstrong Nicola J.
- Arosio Beatrice
- Bailly Henri
- Banaj Nerisa
- Baquero Miquel
- Belen Pastor Ana
- Bellenguez Celine
- Benaque Alba
- Benussi Alberto
- Benussi Luisa
- Bernal Sanchez-Arjona Maria
- Bessi Valentina
- Binetti Giuliano
- Bis Joshua C.
- Blennow Kaj
- Blesa Rafael
- Boada Merce
- Boerwinkle Eric
- Borroni Barbara
- Boschi Silvia
- Bossu Paola
- Buerger Katharina
- Buiza-Rueda Dolores
- Bullido Maria J.
- Caffarra Paolo
- Calero Miguel
- Carolina Dalmasso Maria
- Carracedo Angel
- Cecchetti Roberta
- Cervera-Carles Laura
- Charbonnier Camille
- Chene Genevieve
- Chillotti Caterina
- Ciccone Simona
- Clarimon Jordi
- Clark Christopher
- Conti Elisa
- Corbaton-Anchuelo Arturo
- Corma-Gomez Anais
- Dardiotis Efthimios
- de Mendonca Alexandre
- de Rojas Itziar
- Deckert Juergen
- Deckert Jurgen
- del Ser Teodoro
- Deniz-Naranjo M. Candida
- Deramecourt Vincent
- DeStefano Anita L.
- Dichgans Martin
- Diehl-Schmid Janine
- Diez-Fairen Monica
- Djurovic Srdjan
- Duezel Emrah
- Dufouil Carole
- Duron Emmanuelle
- Duzel Emrah
- Engelborghs Sebastiaan
- Escott-Price Valentina
- Esiri Margaret
- Espinosa Ana
- Ewers Michael
- Farotti Lucia
- Farrer Lindsay A.
- Fenoglio Chiara
- Fernandez-Fuertes Marta
- Ferreira Catarina B.
- Ferri Evelyn
- Fischer Peter
- Fliessbach Klaus
- Fornage Myriam
- Fortea Juan
- Fostinelli Silvia
- Franco-Macias Emilio
- Frank-Garcia Ana
- Frikke-Schmidt Ruth
- Froelich Lutz
- Galimberti Daniela
- Garcia-Gonzalez Pablo
- Garcia-Madrona Sebastian
- Garcia-Ribas Guillermo
- Gelpi Ellen
- Ghidoni Roberta
- Giaccone Giorgio
- Giedraitis Vilmantas
- Giegling Ina
- Gil Silvia
- Goldhardt Oliver
- Gonzalez-Perez Antonio
- Graff Caroline
- Grande Giulia
- Grenier-Boley Benjamin
- Grimmer Timo
- Gruenblatt Edna
- Grunblatt Edna
- Haapasalo Annakaisa
- Hadjigeorgiou Georgios
- Haegg Sara
- Hagg Sara
- Haines Jonathan L.
- Hampel Harald
- Hanon Oliver
- Hartmann Annette M.
- Hausner Lucrezia
- Heilmann-Heimbach Stefanie
- Helisalmi Seppo
- Heneka Michael T.
- Hernandez Isabel
- Herrmann Martin J.
- Hiltunen Mikko
- Hoffmann Per
- Holmans Peter A.
- Holmes Clive
- Holstege Henne
- Hort Jakub
- Huerto Vilas Raquel
- Huisman Martijn
- Hulsman Marc
- Ikram M. Arfan
- Ingelsson Martin
- Jansen Iris E.
- Jessen Frank
- Jian Xueqiu
- K\ufc\ue7\ufckali Fahri
- Kalaria Rajesh N.
- Karlsson Ida K.
- Kehoe Patrick Gavin
- Kern Silke
- Kilander Lena
- Kivipelto Miia
- Kleineidam Luca
- Kok Almar A.L.
- Kornhuber Johannes
- Kosmidis Mary H.
- Kunkle Brian W.
- Kuulasmaa Teemu
- Lage Carmen
- Lambert Jean-Charles
- Lebouvier Thibaud
- Lehtisalo Jenni
- Lemstra Afina W.
- Lerch Ondrej
- Lleo Alberto
- Loewenmark Malin
- Lopez de Munain Adolfo
- Lowenmark Malin
- Macias Juan
- Macleod C.
- Maier Wolfgang
- Mangialasche Francesca
- Maria Garcia-Alberca Jose
- Marquie Marta
- Marshall Rachel
- Martin Montes Angel
- Martinez Rodriguez Carmen
- Masullo Carlo
- Mather Karen A.
- Mayeux Richard
- Mead Simon
- Medina Miguel
- Meggy Alun
- Mendoza Silvia
- Menendez-Gonzalez Manuel
- Mir Pablo
- Molina-Porcel Laura
- Montrreal Laura
- Moreno Fermin
- Moreno-Grau Sonia
- Morgan Kevin
- Munoz-Fernandez Carmen
- Nacmias Benedetta
- Naj Adam C.
- Ngandu Tiia
- Nicolas Gael
- Noethen Markus M.
- Nordestgaard Borge G.
- Nothen Markus M.
- Orellana Adelina
- Ortega Gemma
- Padovani Alessandro
- Papenberg Goran
- Parnetti Lucilla
- Pasquier Florence
- Pastor Pau
- Pedersen Nancy L.
- Perez-Cordon Alba
- Perez-Tur Jordi
- Pericak-Vance Margaret A.
- Peters Oliver
- Pijnenburg Yolande A. L.
- Pineda Juan A.
- Pinol-Ripoll Gerard
- Pisanu Claudia
- Polak Thomas
- Popp Julius
- Posthuma Danielle
- Quenez Olivier
- Quintela Ines
- Rabano Alberto
- Rainero Innocenzo
- Ramirez Alfredo
- Real Luis M.
- Reynolds Chandra A.
- Riedel-Heller Steffi
- Riederer Peter
- Roberto Natalia
- Rodriguez-Rodriguez Eloy
- Rongve Arvid
- Rosas Allende Irene
- Rosende-Roca Maitee
- Rossi Giacomina
- Rossi Paolo Dionigi
- Royo Jose Luis
- Rubino Elisa
- Ruiz Agustin
- Rujescu Dan
- Saez Maria Eugenia
- Sakka Paraskevi
- Saltvedt Ingvild
- Sanabria Angela
- Sanchez-Garcia Florentino
- Sanchez-Juan Pascual
- Sanchez-Valle Raquel
- Sando Sigrid Botne
- Satizabal Claudia L.
- Scamosci Michela
- Scarmeas Nikolaos
- Scarpini Elio
- Schellenberg Gerard D.
- Scheltens Philip
- Scherbaum Norbert
- Scherer Martin
- Schmid Matthias
- Schneider Anja
- Seidu Nazib M.
- Selbaek Geir
- Seripa Davide
- Serrano-Rios Manuel
- Seshadri Sudha
- Sims Rebecca
- Skoog Ingmar
- Skrobot Olivia Anna
- Sleegers Kristel
- Smith A. David
- Soininen Hilkka
- Sorbi Sandro
- Sotolongo-Grau Oscar
- Spallazzi Marco
- Spalletta Gianfranco
- Spottke Annika
- Squassina Alessio
- Stahlbom Anne Kinhult
- Stringa Najada
- Tagliavini Fabrizio
- Tankard Rick M.
- Tarraga Lluis
- Teresa Martinez-Larrad Maria
- Tesi Niccolo
- Thomassen Jesper Qvist
- Tremolizzo Lucio
- Tsolaki Magda
- Tybjaerg-Hansen Anne
- Tybjorg-Hansen Anne
- Ullgren Abbe
- Valero Sergi
- Van Broeckhoven Christine
- van der Flier Wiesje M.
- van der Lee Sven J.
- Van Dongen Jasper
- van Duijn Cornelia M.
- van Schoor Natasja M.
- Vandenberghe Rik
- Vidal Jean-Sebastien
- Vogelgsang Jonathan
- Vyhnalek Martin
- Wagner Michael
- Wallon David
- Wang Li-San
- Weinhold Leonie
- Williams Julie
- Wiltfang Jens
- Yang Qiong
- Yannakoulia Mary
- Zetterberg Henrik
- Zettergren Anna
- Zulaica Miren
- Publication venue
- Nat Commun
- Publication date
- 01/01/2021
- Field of study
Funder: Funder: Fundación bancaria ‘La Caixa’ Number: LCF/PR/PR16/51110003 Funder: Grifols SA Number: LCF/PR/PR16/51110003 Funder: European Union/EFPIA Innovative Medicines Initiative Joint Number: 115975 Funder: JPco-fuND FP-829-029 Number: 733051061Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer's disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer's disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer's disease
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
- Author
- Aarsland Dag
- Aarsland Dag
- Abdelnour Carla
- Abraham Richard
- Abraham Richard
- Adarmes-Gómez A.D.
- Adarmes-Gómez Ad
- Aguilera N.
- Aguilera Nuria
- Ahmad Shahzad
- Al-Chalabi Ammar
- Al-Chalabi Ammar
- Alarcon E.
- Alarcón-Martín E.
- Alarcón-Martín Emilio
- Alcolea Daniel
- Alegret M.
- Alegret Montserrat
- Alonso M.D.
- Alvarez Ignacio
- Alvarez Victoria
- Ambati Aditya
- Amer-Ferrer G.
- Amin Najaf
- Amouyel Philippe
- Amouyel Philippe
- Amouyel Phillippe
- Anastasiou Anna
- Anastasiou Costas
- Andrade Victor
- Andreassen Ole A.
- Andreassen Ole A.
- Andreassen Ole A.
- Andreoni Simona
- Annuar Azlina Ahmad
- Antequera M.
- Anthoula Tsolaki
- Antikainen Riitta
- Antonell Anna
- Antúnez C.
- Appollonio Ildebrando
- Arcaro Marina
- Archetti Silvana
- Arfan Ikram M.
- Arias Pastor Alfonso
- Ariel Prestia Federico
- Armstrong Nicola J.
- Arosio Beatrice
- Arosio Beatrice
- Assogna Francesca
- Athanasiu Lavinia
- Athanasiu Lavinia
- Au Wing-Lok
- Bahrami Shahram
- Bailly Henri
- Banaj Nerisa
- Baquero M.
- Baquero Miquel
- Bass Nicholas J.
- Bass Nick
- Bastiani Patrizia
- Bayer Anthony
- Becker Tim
- Belezhanska Diyana
- Bellenguez Céline
- Bellenguez Céline
- Bellenguez Céline
- Belloy Michael E.
- Belén Pastor Ana
- Ben-Shlomo Yoav
- Benussi Alberto
- Benussi Luisa
- Benussi Luisa
- Bergh Sverre
- Bernal M.
- Bernardo-Harrington Mateus
- Berr Claudine
- Berr Claudine
- Besse Céline
- Bessi Valentina
- Binetti Giuliano
- Bizarro Alessandra
- Bjerke Maria
- Blennow Kaj
- Blesa R.
- Blesa Rafael
- Boada M.
- Boada M.
- Boada Mercè
- Boada Mercè
- Boecker Henning
- Boland Anne
- Boland Anne
- Borroni Barbara
- Borroni Barbara
- Boschi Silvia
- Bosnes Ingunn
- Bossù Paola
- Brayne Carol
- Brayne Carol
- Bresner Catherine
- Brice Alexis
- Brodaty Henry
- Brookes Keeley J.
- Brown Kristelle
- Brown Kristelle S.
- Bråthen Geir
- Bråthen Geir
- Buendia M.
- Buendia Mar
- Buiza-Rueda D.
- Buiza-Rueda Dolores
- Bullido M.J.
- Bullido María J.
- Bullido María J.
- Burguera J.A.
- Burholt Vanessa
- BÛrger Katharina
- Caffarra Paolo
- Calero M.
- Calero Miguel
- campion Dominique
- Campos-Martin Rafael
- Cano A.
- Carracedo A.
- Carracedo Ángel
- Carrillo F.
- Carrillo F.
- Carrion-Claro M.
- Carrión-Claro M.
- Casajeros M.J.
- Castaño Eduardo M.
- Castillo Morales Atahualpa
- Cañabate P.
- Cañabate Pilar
- Cecchetti Roberta
- Cervera-Carles Laura
- Chan Anne Y.Y.
- Chao Yinxia
- Chapuis Julien
- Charbonnier Camille
- Chen Ling
- Chen Yongping
- Chene Geneviève
- Chew Elaine Guo Yan
- Chillotti Caterina
- Chipi Elena
- Chung Sun Ju
- Ciccone Simona
- Ciullo Valentina
- Claassen Jurgen A.H.R.
- Clarimon Jordi
- Clarimon Jordi
- Clarimon Jordi
- Clarimón J.
- Clark Christopher
- Clarke Robert
- Collinge John
- Collinge John
- Conti Elisa
- Corbatón-Anchuelo A.
- Cores Valeria
- Corma-Gómez Anaïs
- Costa Marcos R
- Costantini Emanuele
- Craig David
- Craig David
- Cruz-Gamero J.M.
- Cuesta Carolina
- Custodero Carlo
- Daian Delphine
- Dalmasso Maria Carolina
- Damotte Vincent
- Damotte Vincent
- Daniele Antonio
- Daniele Antonio
- Dardiotis Efthimios
- Darling Daniel
- Dartigues Jean-Francois
- Dartigues Jean-François
- David Smith A.
- David Smith A.
- Davies Chloe
- de Deyn Peter Paul
- de Mendonça Alexandre
- de Mendonça Alexandre
- de Munain Adolfo Lopez
- de Pancorbo M.M.
- De Roeck Ellen
- de Rojas I.
- de Rojas I.
- de Rojas Itziar
- de Rojas Itziar
- Debette Stéphanie
- Debette Stéphanie
- Deckert Jürgen
- del Ser T.
- del Ser Teodoro
- Del Zompo Maria
- Deleuze Jean-François
- Deleuze Jean-François
- Deloukas Panagiotis
- Deloukas Pangiotis
- den Bussche Hendrik
- Denning Nicola
- Denning Nicola
- Deramecourt Vincent
- Dermecourt Vincent
- Dichgans Martin
- Dichgans Martin
- Dichgans Martin
- Diego S.
- Diego Susana
- Diehl-Schmid Janine
- Diez-Fairen M.
- Diez-Fairen Mónica
- Dionigi Rossi Paolo
- Djurovic Srdjan
- Djurovic Srdjan
- Dolores Alonso María
- Dowzell Kimberley
- Drichel Dmitriy
- Dubois Bruno
- Dufouil Carole
- Dufouil Carole
- Dufouil Carole
- During Emmanuel
- Duron Emmanuelle
- Düzel Emrah
- Düzel Emrah
- Engelborghs Sebastiaan
- Epelbaum Jacques
- Escott-Price Valentina
- Escott-Price Valentina
- Escuela R.
- Escuela R.
- Espinosa A.
- Espinosa Ana
- Etchepareborda Ignacio
- Eugenia Sáez María
- Ewers Michael
- Fabrizio Tagliavini
- Fallgaard Nielsen Sune
- Farotti Lucia
- Fenoglio Chiara
- Fernández-Fuertes Marta
- Ferrarese Carlo
- Ferreira Catarina B
- Ferri Evelyn
- Feulner Thomas
- Fievet Nathalie
- Fievet Nathalie
- Fin Bertrand
- Fischer Peter
- Fisher Elizabeth
- Fladby Tormod
- Fladby Tormod
- Fließbach Klaus
- Foo Jia Nee
- Foo Jia Nee
- Forsell Charlotte
- Fortea J.
- Fortea Juan
- Fostinelli Silvia
- Fox Nick
- Fox Nick C.
- Fox Nick C.
- Franco E.
- Franco-Macías Emlio
- Frank-García A.
- Frank-García Ana
- Frikke-Schmidt Ruth
- Frikke-Schmidt Ruth
- Froelich Lutz
- Frölich Lutz
- Gailhajenet A.
- Gailhajenet Anna
- Galeano Pablo
- Galimberti Daniela
- Galimberti Daniela
- Gan-Or Ziv
- Garcia Madrona S.
- Garcia-Gonzalez Pablo
- Garcia-Madrona Sebastian
- Garcia-Ribas G.
- Garcia-Ribas Guillermo
- Garcia-Ribas Guillermo
- García-Alberca J.M.
- García-Alberca José María
- García-González P.
- García-González Pablo
- García-González Pablo
- Garrote-Espina L.
- Garrote-Espina L.
- Germani Sandra
- Gerrish Amy
- Gerrish Amy
- Ghanbari Mohsen
- Ghidoni Roberta
- Giedraitis Vilmantas
- Giedraitis Vilmantas
- Giegling Ina
- Giegling Ina
- Gill Michael
- Gill Michael
- Gill Michael
- Gim Jungsoo
- Giorgio Giaccone
- Goldhardt Oliver
- Goldhardt Oliver
- González-Péerez A.
- González-Pérez Antonio
- Graff Caroline
- Graff Caroline
- Grande Giulia
- Green Emma
- Greicius Michael D.
- Grenier-Boley Benjamin
- Grenier-Boley Benjamin
- Grenier-Boley Benjamin
- Grimmer Timo
- Grünblatt Edna
- Grünblatt Edna
- Gu Wei
- Guerreiro Rita
- Guetta-Baranes Tamar
- Guitart M.
- Guitart Marina
- Gurling Hugh
- Gwilliam Rhian
- Gwilliam Rhian
- Gómez-Garre P.
- Gómez-Garre P.
- Haapasalo Annakaisa
- Hadjigeorgiou Georgios
- Hampel Harald
- Hampel Harald
- Hannequin Didier
- Hanon Olivier
- Hanon Olivier
- Hanon Olivier
- Hardy John
- Hardy John
- Hardy John
- Harold Denise
- Harold Denise
- Hartmann Annette M.
- Hartmann Annette M.
- Harwood Janet
- Hausner Lucrezia
- Hausner Lucrezia
- He Zihuai
- Heilmann-Heimbach Stefanie
- Heilmann-Heimbach Stefanie
- Helisalmi Seppo
- Heneka Michael T.
- Hernández Isabel
- Herold Christine
- Herrmann Martin J.
- Heun Reinhard
- Heuser Isabella
- Hevilla S.
- Hiltunen Mikko
- Hiltunen Mikko
- Hodges Angela
- Hoffmann Per
- Hoffmann Per
- Hollingworth Paul
- Hollingworth Paul
- Holmans Peter
- Holmans Peter A.
- Holmes Clive
- Holmes Clive
- Holstege Henne
- Holstege Henne
- Hooper Nigel M.
- Hort Jakub
- Hort Jakub
- Huerto Vilas Raquel
- Hulsman Marc
- Hüll Michael
- Ibarria M.
- Ibarria Marta
- Ignacio Bacha Juan
- Ignacio Brusco Luis
- Ikeuchi Takeshi
- Ingelsson Martin
- Ingelsson Martin
- Ingino Carlos
- Jan Biessels Geert
- Janowitz Daniel
- Jansen Iris
- Jansen Iris
- Jeon Beom S.
- Jessen Frank
- Jessen Frank
- Jessen Frank
- Jesús S.
- Jesús S.
- Jiang Lulu
- Johansson Charlotte
- Johnston Janet A.
- Johnston Jarret A.
- Jones Lesley
- Jones Lesley
- Jung Yoo Jin
- Jöckel Karl-Heinz
- Jürgen Deckert
- Kauwe John
- Kehoe Patrick
- Kehoe Patrick G.
- Kehoe Patrick G.
- Kern Silke
- Khor Chiea Chuen
- Kilander Lena
- Kinhult Ståhlbom Anne
- Kivipelto Miia
- Kleineidam Luca
- Klopp Norman
- Kochen Silvia
- Koh Woon-Puay
- Kohler Eduardo
- Kohler Matias
- Koivisto Anne
- Kornhuber Johannes
- Kornhuber Johannes
- Kosmidis Mary H.
- Kuulasmaa Teemu
- Kuulasmaa Teemu
- Kölsch Heike
- Küçükali Fahri
- Küçükali Fahri
- Laatikainen Tiina
- Labrador Espinosa M.A.
- Labrador Ma
- Lacidogna Giordano
- Lacour ndré
- Laczo Jan
- Lafuente A.
- Lafuente Asunción
- Lage C.
- Lage Carmen
- Lage Carmen
- Lambert Jean-Charles
- Lambert Jean-Charles
- Lambert Jean-Charles
- Laske Christoph
- Laukka Erika J
- Lauria Alessandra
- Lawlor Brian
- Lawlor Brian
- Le Guen Yann
- Lee Kun Ho
- Legaz A.
- Lehtisalo Jenni
- Lerch Ondrej
- Lian Michelle M.
- Lian Michelle Mulan
- Lim Jia Lun
- Lim Shen-Yang
- Lin Juei-Jueng
- Lin Ling
- Lindström Jaana
- Lis Palacio Dana
- Lisso Julieta
- Liu Chunfeng
- Liu Jianjun
- Livingston Gill
- Livingston Gill
- Lleó Alberto
- Lleóo A.
- Lord Jenny
- Love Seth
- Love Seth
- Lovestone Simon
- Lovestone Simon
- Luckcuck Lauren
- Luckcuck Lauren
- Luis Royo Jose
- Luo Guo
- Lupton Michelle
- Lupton Michelle
- Luís Royo Jose
- Lynch Aoibhinn
- Lynch Aoibhinn
- Lóopez de Munáin A.
- López-García S.
- López-García Sara
- Löwemark Malin
- Macias J.
- Macias-García D.
- Macias-García D.
- MacLeod Catherine A.
- Macías Juan
- Magda Tsolaki
- Maier Wolfgang
- Maier Wolfgang
- Malik Rainer
- Mangialasche Francesca
- Mangone Carlos
- Mann David
- Mann David
- Manzanares S.
- Mao Chengjie
- Marco Spallazzi
- Maria García-Alberca Jose
- Maroñas O.
- Marquié M.
- Marquié M.
- Marquié Marta
- Marshall Rachel
- Marshall Rachel
- Martín Montes A.
- Martín Montes Angel
- Martín E.
- Martín Elvira
- Martínez Rodríguez Carmen
- Martínez B.
- Martínez C.
- Martínez M.T.
- Martínez V.
- Martínez-Lage Álvarez A.
- Marín M.
- Marín M.
- Marín T.
- Marín-Muñoz J.
- Masullo Carlo
- Masullo Carlo
- Mata Ignacio
- Mather Karen
- Matoska Vaclav
- Mauleón Ana
- Mayhaus Manuel
- Mayo Kevin
- McGuinness Bernadette
- McGuinness Bernadette
- McQuillin Andrew
- McQuillin Andrew
- Mead Simon
- Mead Simon
- Meah Wee-Yang
- Mecocci Patrizia
- Mecocci Patrizia
- Medel Nancy
- Medina M.
- Medina Miguel
- Meggy Alun
- Meggy Alun
- Mehrabian Shima
- Mehrabian Shima
- Mendioroz Iriarte M.
- Mendoza Silvia
- Menéndez-González M.
- Menéndez-González Manuel
- Mignot Emmanuel
- Mir P.
- Mir Pablo
- Mir Pablo
- Miyashita Akinori
- Moebus Susanne
- Moebus Susanne
- Moebus Susanne
- Mok Shi Qi
- Mok Vincent
- Mol Merel
- Molina-Porcel Laura
- Montrreal L.
- Montrreal L.
- Montrreal Laura
- Morelli Laura
- Moreno Fermin
- Moreno Fermin
- Moreno M.
- Moreno Mariona
- Moreno-Grau S.
- Moreno-Grau Sonia
- Morgan Kevin
- Morgan Kevin
- Morizono Takashi
- Morris John
- Muchnik Carolina
- Mummery Catherine
- Möthen Markus M
- Nacmias Benedetta
- Nacmias Benedetta
- Naito Tatsuhiko
- Nash William
- Natunen Teemu
- Ng Ebonne Y.
- Ngandu Tiia
- Nicolas Aude
- Nicolas Gael
- Nicolas Gael
- Niida Shumpei
- Nordestgaard Børge G.
- Nordestgaard Børge G.
- Novack Gisela
- Nuñez-Llaves R.
- Nöthen Markus M.
- O'Donovan Michael
- O'Donovan Michael C.
- Okada Yukinori
- Olaso Robert
- Olivar Natividad
- Olivé C.
- Orellana A.
- Orellana A.
- Orellana Adelina
- Orsini Michela
- Ortega G.
- Ortega Gemma
- Ortiz Cecilia
- Owen Michael
- Owen Michael J.
- Ozaki Kouichi
- Pablo Tartan Juan
- Padovani Alessandro
- Pancho A.
- Pancho Ana
- Paola Zoia Chiara
- Paolo Caffarra
- Papenberg Goran
- Papenberg Goran
- Papma Janne
- Park Hyeonseul
- Parnetti Lucilla
- Parnetti Lucilla
- Parveen Kayenat
- Parveen Kayenat
- Pasquier Florence
- Pasquier Florence
- Pasquier Florence
- Passmore Peter
- Passmore Peter
- Pastor P.
- Pastor Pau
- Pastor Pau
- Patel Yogen
- Pei Zhong
- Peixoto Leal Thiago
- Pelejà E.
- Pelejà Esther
- Peltonen Markku
- Peng Rong
- Pericard Pierre
- Periñán Mt
- Periñán-Tocino T.
- Perneczky Robert
- Peters Oliver
- Peters Oliver
- Pickering-Brown Stuart
- Pijnenburg Yolande A. L.
- Pijnenburg Yolande A.L.
- Pinchler Sabrina
- Pineda J.A.
- Pineda Juan A.
- Pineda-Sánchez R.
- Pineda-Sánchez R.
- Piras Fabrizio
- Piras Federica
- Pisanu Claudia
- Piñol Ripoll G.
- Piñol-Ripoll Gerard
- Piñol-Ripoll Gerard
- Polak Thomas
- Politis Daniel G.
- Popp Julius
- Popp Julius
- Porcel Laura Molina
- Posthuma Danielle
- Powell John
- Powell John F.
- Prakash Kumar-M.
- Preckler S.
- Preckler Silvia
- Priller Josef
- Proitsi Petra
- Proitsi Petra
- Prokic Ivana
- Puerta R.
- Puerta Raquel
- Puerta Raquel
- Péerez Tur J.
- Pérez-Cordon A.
- Pérez-Cordón Alba
- Pérez-Tur Jordi
- Pérez-Tur Jordi
- Quenez Olivier
- Quintela I.
- Quintela Inés
- Qvist Thomassen Jesper
- Rainero Innocenzo
- Rainero Innocenzo
- Ramakers Inez
- Ramakers Inez
- Ramirez Alfredo
- Ramirez Alfredo
- Ramirez Alfredo
- Real de Asúa D.
- Real L.M.
- Real Luis M.
- Real Luis M.
- Reinders Marcel J.T.
- Reyes Toso Carlos
- Riedel-Heller Steffi
- Riedel-Heller Steffi
- Riedel-Heller Steffi
- Riederer Peter
- Riemenschneider Matthias
- Rios Mario
- Ritchie Karen
- Roberto Natalia
- Rodrigo S.
- Rodrigo-Herrero Silvia
- Rodriguez-Rodriguez Eloy
- Rodriguez-Rodriguez Eloy
- Rodríguez-Rodríguez E.
- Rojo Matias
- Rong Zhang Bao
- Rongve Arvid
- Rongve Arvid
- Rosas Allende Irene
- Rosende-Roca M.
- Rosende-Roca Maitée
- Ross Owen A.
- Rossi Giacomina
- Rossi Giacomina
- Rossor Martin
- Rossor Martin
- Roveta Fausto
- Royo J.L.
- Rubino Elisa
- Rubinsztein David C.
- Rubinsztein David C.
- Ruiz A.
- Ruiz A.
- Ruiz Agustín
- Ruiz Agustín
- Rujescu Dan
- Rujescu Dan
- Rujescu Dan
- Ryan Natalie S.
- Ryan Nathalie
- Ráabano A.
- Rábano Alberto
- Sachdev Perminder
- Saenz Aldo
- Sakka Paraskevi
- Sala Gessica
- Saltvedt Ingvild
- Saltvedt Ingvild
- Salvadori Nicola
- Sanabria A.
- Sanabria Ángela
- Sanchez Abalos Mariana
- Sanchez del Valle Díaz R.
- Sanchez-Garcia Florentino
- Sando Sigrid B.
- Sando Sigrid B.
- Sastre Merlín Isabel
- Sastre I.
- Satake Wataru
- Scamosci Michela
- Scarmeas Nikolaos
- Scarmeas Nikolaos
- Scarpini Elio
- Scheltens Philip
- Scheltens Philip
- Scherbaum Norbert
- Scherbaum Norbert
- Scherer Martin
- Scherer Martin
- Schmid Matthias
- Schneider Anja
- Schneider Anja
- Schott Jonathan M.
- Schott Jonathan M.
- Schürmann Britta
- Selbæk Geir
- Selbæk Geir
- Selnes Per
- Sempere Vicente
- Seripa Davide
- Seripa Davide
- Serpente Maria
- Serrano-Rios M.
- Sevillano Zulma
- Shadrin Alexey A.
- Shadrin Alexey A.
- Shang Hui-Fang
- Shaw Christopher E.
- Shaw Christopher E.
- Shi Chang-He
- Shofany Jacob
- Sims Rebecca
- Sims Rebecca
- Sims Rebecca
- Singleton Andrew B.
- Skoog Ingmar
- Skrobot Olivia
- Sleegers Kristel
- Sleegers Kristel
- Soininen Hilkka
- Solfrizzi Vincenzo
- Solfrizzi Vincenzo
- Solis Patricia
- Solomon Alina
- Song Kyuyoung
- Sorbi Sandro
- Sotolongo-Grau O.
- Sotolongo-Grau O.
- Sotolongo-Grau Oscar
- Spalletta Gianfranco
- Spalletta Gianfranco
- Spottke Annika
- Squassina Alessio
- Squassina Alessio
- Stordal Eystein
- Stordal Eystein
- Strandberg Timo
- Sussams Rebecca
- Sáez M.E.
- Sánchez Juan Pascual
- Sánchez-Arjona María Bernal
- Sánchez-Juan P.
- Sánchez-Juan Pascual
- Sánchez-Valle Raquel
- Sánchez-Valle Raquel
- Takalo Mari
- Talyansky Seth D.
- Tan Ai Huey
- Tan Eng-King
- Tan Eng-King
- Tan Louis C.S.
- Tandiono Moses
- Tegos Thomas
- Teipel Stefan
- Teresa Martínez-Larrad María
- Tesí Niccolo
- Teunissen Charlotte
- Thalamuthu Anbupalam
- Thomas Charlene
- Thomas Tegos
- Thomassen Jesper Qvist
- Thonberg Håkan
- Toda Tatsushi
- Todd Stephen
- Todd Stephen
- Traykov Latchezar
- Tremolizzo Lucio
- Tremolizzo Lucio
- Tsolaki Magda
- Tsolaki Magda
- Tuomilehto Jaakko
- Turton James
- Tybjærg-Hansen Anne
- Tzourio Christophe
- Táarraga L.
- Tárraga Lluís
- Uitterlinden Andre
- Ullgren Abbe
- Ulstein Ingun
- Ulstein Ingun
- Uphill James
- Vacca Alessandro
- Valero S.
- Valero S.
- Valero Sergi
- Van Broeckhoven Christine
- van der Flier Wiesje
- van der Flier Wiesje M.
- van der Lee Sven J.
- van der Lugt Aad
- Van Dongen Jasper
- van Duijn Cornelia M.
- Van Duin Cornelia
- van Rooij Jeroen
- van Swieten John
- van Swieten John
- Vandenberghe Rik
- Vardy Emma
- Vargas L.
- Vargas Liliana
- Verhey Frans
- Verhey Frans
- Vicente M.P.
- Vidal Jean-Sébastien
- Vigo-Ortega R.
- Vigo-Ortega R.
- Vivancos L.
- Vogelgsang Jonathan
- Vyhnalek Martin
- Vyhnalek Martin
- Waern Margda
- Wagner Michael
- Wallon David
- Wallon David
- Warden Donald
- Warner Nick
- Warren Jason D.
- Weber Heike
- Weinhold Leonie
- Wichmann H-Erich
- Wilcock Gordon
- Williams Amy
- Williams Julie
- Williams Julie
- Williams Julie
- Wiltfang Jens
- Wiltfang Jens
- Wiltfang Jens
- Windle Gill
- Woods Bob
- Wu Yih-Ru
- Xu Renshi
- Xu Yu-ming
- Yan Yaping
- Yang Jing
- Yannakoulia Mary
- Yaqub Amber
- Yogeshwar Selina Maria
- Yonkova Mihova Kalina
- Yu Eric
- Zetterberg Henrik
- Zettergren Anna
- Zhang Jing
- Zulaica Miren
- Álvarez I.
- Álvarez V.
- Álvarez Victoria
- Publication venue
- National Academy of Sciences
- Publication date
- 29/08/2023
- Field of study
Across multiancestry groups, we analyzed Human Leukocyte Antigen (HLA) associations in over 176,000 individuals with Parkinson’s disease (PD) and Alzheimer’s disease (AD) versus controls. We demonstrate that the two diseases share the same protective association at the HLA locus. HLA-specific fine-mapping showed that hierarchical protective effects of HLA-DRB1*04 subtypes best accounted for the association, strongest with HLA-DRB1*04:04 and HLA-DRB1*04:07, and intermediary with HLA-DRB1*04:01 and HLA-DRB1*04:03. The same signal was associated with decreased neurofibrillary tangles in postmortem brains and was associated with reduced tau levels in cerebrospinal fluid and to a lower extent with increased Aβ42. Protective HLA-DRB1*04 subtypes strongly bound the aggregation-prone tau PHF6 sequence, however only when acetylated at a lysine (K311), a common posttranslational modification central to tau aggregation. An HLA-DRB1*04-mediated adaptive immune response decreases PD and AD risks, potentially by acting against tau, offering the possibility of therapeutic avenues
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