15 research outputs found
La atención a las necesidades educativas específicas asociadas a la discapacidad: procesos y dificultades. Un estudio desde la vinculación universitaria
- Publication venue
- Universidad Pedagogica Experimental Libertador
- Publication date
- 11/06/2022
- Field of study
El objetivo de esta investigación fue analizar la recuperación del turismo ecuatoriano hacia el contexto post-COVID-19, en el corto, mediano y largo plazo. Para el examen, se conciben los retos que deberán tener la academia y los actores involucrados en el desarrollo de una industria, donde su práctica esté basada en el valor agregado del conocimiento desde la investigación científica. La metodología utilizada para elaborar esta investigación ha sido una revisión documental bibliográfica para el análisis de contenido sobre la relación turismo-COVID-19 en Ecuador, cuyo examen se inserta en el paradigma de la investigación cualitativa, desde un enfoque interpretativo. Las restricciones impuestas por la emergencia COVID-19, han tenido un impacto significativo en la confianza de los turistas, para volver a frecuentar el territorio de Ecuador, por lo que eliminar incertidumbres para turistas y empresas del sector es el denominador común para un reinicio. El pensamiento central que emerge en estas condiciones es la necesidad de concebir la crisis generada por COVID-19 en el sector turístico ecuatoriano, como una oportunidad para modificar el paradigma tradicional en que se ha desenvuelto el turismo.
ABSTRACT
The objective of this research was to analyze the recovery of Ecuadorian tourism towards the post-COVID-19 context, in the short, medium and long term. For the exam, there was a conception of the challenges that the academy and the actors involved in the development of an industry, where its practice is based on the added value of knowledge from scientific research. The methodology used carry out this research has been a bibliographic documentary review for the analysis of content on the relationship between tourism and COVID-19 in Ecuador, whose examination follows the qualitative research paradigm, from an interpretative approach. The restrictions imposed by the COVID-19 emergency, have had a significant impact on the confidence of tourists, to return the territory of Ecuador, so eliminating uncertainties for tourists and companies in the sector is the common denominator for a restart. The central thought that emerges in these conditions is the need to conceive the crisis generated by COVID-19 in the Ecuadorian tourism sector, as an opportunity to modify the traditional paradigm in which tourism has developed.
RESUMO
O objetivo desta pesquisa foi analisar a recuperação do turismo equatoriano para o contexto pós-COVID-19, no curto, médio e longo prazo. Para o exame, são concebidos os desafios que deverão ter a academia e os atores envolvidos no desenvolvimento de uma indústria, onde sua prática esteja baseada no valor agregado do conhecimento desde a investigação científica. A metodologia utilizada para a elaboração desta pesquisa foi uma revisão documental bibliográfica para a análise de conteúdo sobre a relação turismo COVID - 19 no Equador, cujo exame se insere no paradigma da pesquisa qualitativa, a partir de uma abordagem interpretativa. As restrições impostas pela emergência COVID-19, tiveram um impacto significativo na confiança dos turistas, para voltar a frequentar o território do Equador, eliminando assim incertezas para turistas e empresas do setor é o denominador comum para uma reinicialização. O pensamento central que emerge nestas condições é a necessidade de conceber a crise gerada pela COVID-19 no setor turístico equatoriano, como uma oportunidade para modificar o paradigma tradicional em que se desenvolveu o turismo
New insights into the genetic etiology of Alzheimer's disease and related dementias.
- Author
- Aarsland D.
- Abdelnour C.
- Ahmad S.
- Alarcón-Martín E.
- Alcolea D.
- Alegret M.
- Allende I.R.
- Alvarez I.
- Amin N.
- Amouyel P.
- Andrade V.
- Andreassen O.A.
- Antúnez C.
- Appollonio I.
- Arcaro M.
- Archetti S.
- Armstrong N.J.
- Arosio B.
- Athanasiu L.
- Bailly H.
- Banaj N.
- Baquero M.
- Barral S.
- Beiser A.
- Bellenguez C.
- Below J.E.
- Benchek P.
- Benussi L.
- Berr C.
- Besse C.
- Bessi V.
- Biessels G.J.
- Binetti G.
- Bis J.C.
- Bizarro A.
- Blesa R.
- Boada M.
- Boerwinkle E.
- Boland A.
- Borroni B.
- Boschi S.
- Bossù P.
- Bresner C.
- Bressler J.
- Brodaty H.
- Broeckhoven C.V.
- Brookes K.J.
- Brusco L.I.
- Bråthen G.
- Buiza-Rueda D.
- Bullido M.J.
- Burholt V.
- Bush W.S.
- Bûrger K.
- Calero M.
- Campos-Martin R.
- Cantwell L.B.
- Carracedo Á.
- Cecchetti R.
- Cervera-Carles L.
- Chapuis J.
- Charbonnier C.
- Chen H.H.
- Chene G.
- Chillotti C.
- Chung J.
- Ciccone S.
- Claassen JAHR
- Clarimon J.
- Clark C.
- Conti E.
- Corma-Gómez A.
- Costa M.R.
- Costantini E.
- Cuccaro M.L.
- Custodero C.
- Daian D.
- Dalmasso M.C.
- Damotte V.
- Daniele A.
- Dardiotis E.
- Dartigues J.F.
- de Deyn P.P.
- de Mendonça A.
- de Munain A.L.
- de Paiva Lopes K.
- de Rojas I.
- de Witte L.D.
- Debette S.
- Deckert J.
- Del Ser T.
- Deleuze J.F.
- Denning N.
- DeStefano A.
- Dichgans M.
- Diehl-Schmid J.
- Diez-Fairen M.
- Djurovic S.
- Dongen J.V.
- Dufouil C.
- Duron E.
- Düzel E.
- Eiriksdottir G.
- Engelborghs S.
- Escott-Price V.
- Espinosa A.
- Ewers M.
- Faber K.M.
- Fabrizio T.
- Fardo D.W.
- Farotti L.
- Farrer L.A.
- Fenoglio C.
- Fernández-Fuertes M.
- Ferrari R.
- Ferreira C.B.
- Ferri E.
- Fin B.
- Fischer P.
- Fladby T.
- Fließbach K.
- Fongang B.
- Fornage M.
- Foroud T.M.
- Fortea J.
- Fostinelli S.
- Fox N.C.
- Franco-Macías E.
- Frank-García A.
- Frikke-Schmidt R.
- Froelich L.
- Fulton-Howard B.
- Galimberti D.
- Garcia-Gonzalez P.
- Garcia-Madrona S.
- Garcia-Ribas G.
- García-Alberca J.M.
- García-González P.
- Ghanbari M.
- Ghidoni R.
- Giedraitis V.
- Giegling I.
- Giorgio G.
- Goate A.M.
- Goldhardt O.
- Gomez-Fonseca D.
- González-Pérez A.
- Graff C.
- Grande G.
- Green E.
- Grenier-Boley B.
- Grimmer T.
- Grunin M.
- Grünblatt E.
- Gudnason V.
- Guetta-Baranes T.
- Haapasalo A.
- Hadjigeorgiou G.
- Haines J.L.
- Hamilton-Nelson K.L.
- Hampel H.
- Hanon O.
- Hardy J.
- Hartmann A.M.
- Harwood J.
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- Hulsman M.
- Humphrey J.
- Ikram M.A.
- Ingelsson M.
- Jansen I.E.
- Jessen F.
- Jian X.
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- Juan P.S.
- Jun G.R.
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- Kilander L.
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- Kosmidis M.H.
- Kuksa P.P.
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- Kuzma A.B.
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- Morelli L.
- Moreno F.
- Moreno-Grau S.
- Morgan K.
- Mosley T.
- Muchnik C.
- Mukherjee S.
- Nacmias B.
- Naj A.C.
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- Nicolas G.
- Nielsen S.F.
- Nordestgaard B.G.
- Nöthen M.M.
- Olaso R.
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- Ortega G.
- Padovani A.
- Paolo C.
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- Parnetti L.
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- Rossi G.
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- Rubino E.
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- Sachdev P.
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- Saltvedt I.
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- Sanchez-Garcia F.
- Sando S.B.
- Sarnowski C.
- Satizabal C.L.
- Scamosci M.
- Scarmeas N.
- Scarpini E.
- Schellenberg G.D.
- Scheltens P.
- Scherbaum N.
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- Schmid M.
- Schneider A.
- Schott J.M.
- Selbæk G.
- Seripa D.
- Serrano M.
- Seshadri S.
- Sha J.
- Shadrin A.A.
- Sims R.
- Skrobot O.
- Sleegers K.
- Slifer S.
- Snijders GJL
- Soininen H.
- Solfrizzi V.
- Solomon A.
- Song Y.
- Sorbi S.
- Sotolongo-Grau O.
- Spallazzi M.
- Spalletta G.
- Spottke A.
- Squassina A.
- Stordal E.
- Ståhlbom A.K.
- Sáez M.E.
- Sánchez-Arjona M.B.
- Sánchez-Valle R.
- Tartan J.P.
- Tesí N.
- Thalamuthu A.
- Thomas T.
- Thomassen J.Q.
- Tosto G.
- Traykov L.
- Tremolizzo L.
- Tsolaki A.
- Tsolaki M.
- Tybjærg-Hansen A.
- Tárraga L.
- Uitterlinden A.
- Ullgren A.
- Ulstein I.
- Valero S.
- Valladares O.
- van der Flier W.M.
- van der Lee S.J.
- van der Lugt A.
- van Duijn C.M.
- van Rooij J.
- van Swieten J.
- Vance J.
- Vandenberghe R.
- Vardarajan B.N.
- Verhey F.
- Vidal J.S.
- Vilas R.H.
- Vogelgsang J.
- Vyhnalek M.
- Wagner M.
- Wallon D.
- Wang L.S.
- Wang R.
- Weinhold L.
- Williams J.
- Wiltfang J.
- Windle G.
- Woods B.
- Yang Q.
- Yannakoulia M.
- Yaqub A.
- Zare H.
- Zhang X.
- Zhao Y.
- Zhu C.
- Zulaica M.
- Álvarez V.
- Publication venue
- 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 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.
- Abraham R.
- Adams H.
- Adams P.M.
- Adarmes-Gómez A.
- Adarmes-Gómez A.D.
- Aguilera N.
- Aguilera N.
- Aguirre A.
- Ahmad S.
- Akinyemi R.O.
- Al-Chalabi A.
- Alarcón-Martín Emilio
- Albert M.S.
- Albin R.L.
- Alcolea Daniel
- Alegret Montserrat
- Ali M.
- Allen M.
- Allende I.R.
- Alonso M.D.
- Alonso M.D.
- Alvarez I.
- Alvarez L.
- Amer-Ferrer G.
- Amin N.
- Amouyel Philippe
- Anastasiou A.
- Anastasiou C.
- Andrade V.
- Andreassen Ole A.
- Andreoni S.
- Antequera M.
- Antikainen R.
- Antonell A.
- Anttonen V.
- Antúnez C.
- Aparicio H.J.
- Apostolova L.G.
- Appollonio I.
- Arcaro M.
- Archetti S.
- Armstrong N.J.
- Arnold S.E.
- Arosio B.
- Arvas M.
- Assogna F.
- Asthana S.
- Athanasiu L.
- Atwood C.S.
- Auge F.
- Auranen A.
- Auvinen P.
- Awaisa G.
- Ayres G.
- Bacha J.I.
- Bahadori M.
- Bahrami S.
- Bailly H.
- Baldwin C.T.
- Banaj N.
- Baquero M.
- Barber R.C.
- Barnes L.L.
- Barral S.
- Barral S.
- Bass N.
- Bass N.J.
- Bastiani P.
- Bayer A.
- Beach T.G.
- Becker J.T.
- Becker J.T.
- Becker T.
- Beecham G.W.
- Beekly D.
- Behrens T.
- Beiser A.
- Belezhanska D.
- Bellenguez Céline
- Below J.E.
- Below J.E.
- Ben-Shlomo Y.
- Benchek P.
- Benchek P.
- Benitez B.A.
- Bennett D.
- Benussi A.
- Benussi L.
- Bergh S.
- Bernardo-Harrington M.
- Berr Claudine
- Bertelson J.
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- Bessi V.
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- Bullido M.J.
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- Galasko D.R.
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- Galimberti D.
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- Ganguli M.
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- García-Alberca J.M.
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- Geschwind D.H.
- Ghanbari M.
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- Giedraitis Vilmantas
- Giegling I.
- Gilbert J.R.
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- Giorgio G.
- Glatt S.J.
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- Gordillo J.E.
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- Grabowski T.J.
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- Growdon J.H.
- Grunin M.
- Grünblatt E.
- Gu W.
- Gudnason Vilmundur
- Guerreiro R.
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- Guitart M.
- Gurling H.
- Gursoy U.
- Gwilliam R.
- Gómez-Garre P.
- Gómez-Garre P.
- Haapasalo A.
- Habes M.
- Hadjigeorgiou G.
- Haines J.L.
- Haines J.L.
- Hakonarson H.
- Hall J.
- Hamilton R.L.
- Hamilton-Nelson K.L.
- Hampel H.
- Hannequin D.
- Hannula-Jouppi K.
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- 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
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
- Fließbach Klaus
- Fongang Bernard
- Fornage Myriam
- Foroud Tatiana M
- Fortea Juan
- Fostinelli Silvia
- Fox Nick C
- Franco-Macías Emlio
- Frank-García Ana
- Frikke-Schmidt Ruth
- Froelich Lutz
- Fulton-Howard Brian
- Galimberti Daniela
- Garcia-Gonzalez Pablo
- Garcia-Madrona Sebastian
- Garcia-Ribas Guillermo
- García-Alberca Jose Maria
- García-González Pablo
- GERAD .
- Ghanbari Mohsen
- Ghidoni Roberta
- Giedraitis Vilmantas
- Giegling Ina
- Giorgio Giaccone
- Goate Alison M
- Goldhardt Oliver
- Gomez-Fonseca Duber
- González-Pérez Antonio
- GR@ACE .
- Graff Caroline
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- Grenier-Boley Benjamin
- Grimmer Timo
- Grunin Michelle
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- Gudnason Vilmundur
- Guetta-Baranes Tamar
- Haapasalo Annakaisa
- Hadjigeorgiou Georgios
- Haines Jonathan L
- Hamilton-Nelson Kara L
- Hampel Harald
- Hanon Olivier
- Hardy John
- Hartmann Annette M
- Harwood Janet
- Hausner Lucrezia
- Heilmann-Heimbach Stefanie
- Helisalmi Seppo
- Heneka Michael T
- Hernández Isabel
- Herrmann Martin J
- Hiltunen Mikko
- Hoffmann Per
- Holmans Peter A
- Holmes Clive
- Holstege Henne
- Hort Jakub
- Hulsman Marc
- Humphrey Jack
- Ikram M Arfan
- Ingelsson Martin
- Jansen Iris E
- Jessen Frank
- Jian Xueqiu
- Johansson Charlotte
- Juan Pascual Sánchez
- Jun Gyungah R
- Kastumata Yuriko
- Kauwe John
- Kehoe Patrick G
- Kilander Lena
- Kivipelto Miia
- Kleineidam Luca
- Koivisto Anne
- Kornhuber Johannes
- Kosmidis Mary H
- Kuksa Pavel P
- Kukull Walter A
- Kunkle Brian W
- Kuulasmaa Teemu
- Kuzma Amanda B
- Küçükali Fahri
- Lage Carmen
- Lambert Jean-Charles
- Laukka Erika J
- Launer Lenore
- Lauria Alessandra
- Lee Chien-Yueh
- Lehtisalo Jenni
- Lerch Ondrej
- Lleó Alberto
- Longstreth William
- Lopez Oscar
- Love Seth
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- Lunetta Kathryn L
- Löwemark Malin
- Ma Yiyi
- MacLeod Catherine A
- Macías Juan
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- Mangialasche Francesca
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- 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
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- Pastor Ana Belén
- Pastor Pau
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- Pineda Juan A
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- Polak Thomas
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- Posthuma Danielle
- Priller Josef
- Prokic Ivana
- Psaty Bruce M
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- Raj Towfique
- 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
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- Rossi Giacomina
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- Saltvedt Ingvild
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- Sando Sigrid B
- Sarnowski Chloé
- Satizabal Claudia L
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- Scarpini Elio
- Schellenberg Gerard D
- Scheltens Philip
- Scherbaum Norbert
- Scherer Martin
- Schmid Matthias
- Schneider Anja
- Schott Jonathan M
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- Seripa Davide
- Serrano Manuel
- Seshadri Sudha
- Sha Jin
- Shadrin Alexey A
- Sims Rebecca
- Skrobot Olivia
- Sleegers Kristel
- Slifer Susan
- Snijders Gijsje JL
- Soininen Hilkka
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- Song Yeunjoo
- Sorbi Sandro
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- 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
Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries
- Author
- Abad-Motos Ane
- Abbas Ahmed M.
- Abbas Mostafa
- Abbasi Mujeeb
- Abbott Tom
- Abd Karim Muhammad Fairuz Shah
- Abdalaal Ibrahim
- Abdel-Galil Khalid
- Abdelemam Rania
- Abdelgawad Abdalrahman
- Abdelkarim Maryam
- Abdelkhalek Mohamed
- Abdelmageed Abdelfatah
- Abdelmawgoud Sherif
- Abdelmohsen Sarah
- Abdelrahman Ahmed Saber
- Abdelrahman Mostafa
- Abdelwahab Khaled
- Abdou Hossam
- Abdulai Darling Ramatu
- Abdulkhaleq Marwa
- Abdullah Bahiyah
- Abdulsalam Khalifa
- Abdulsalam Shuaib
- Abdur-Rahman Lukman
- Abdus-Salam Rukiyat
- Abdussalam Hameedat Opeyemi
- Abebrese John Tabiri
- Abeldaño Ariel
- Abou-Khalil Jad
- Abou-Taleb Hisham
- Abozid Anwaar
- Abozied Hesham
- Abrate Alberto
- Abu-Zaid Ahmed
- Abubakar Mohammed Kabir
- Abud Burçin
- Abuzaid Mohammed
- Adam Albushra Altayeb
- Adamina Michel
- Adamou Harissou
- Adamu Auwal
- Adamu Kabir Musa
- Adanu Kekeli
- Adebara Idowu
- Adebola Oluwaseyi
- Ademuyiwa Adesoji
- Adeniran Abiodun
- Adepiti Akinfolarin
- Aderogba Adeleke Akeem
- Adesunkanmi Abdulhafiz
- Adeyeye Ademola
- Adisa Adewale
- Adjeso Theophilus Justus Kofi
- Ads Adel Mohamed
- Ads Alaa Mohamed
- Adu-Aryee Nii Armah
- Adumah Collins
- Afzal Irrum
- Agapov Mikhail
- Agarwal Gaurav
- Agarwal Ravi
- Agbeko Anita Eseenam
- Agbeno Evans Kofi
- Agbonrofo Peter
- Agboola Oluseyi
- Aggarwal Gaurav
- Aghadi Ifeanyi
- Aghtarafi Natasha
- Agrawal Amit
- Agresta Ferdinando
- Aguado Héctor J.
- Aguilera-Arevalo Maria-Lorena
- Aherne Thomas
- Ahmad Aline
- Ahmad Maleeha
- Ahmad Misbahu
- Ahmad Sarwat
- Ahmad Shahzaib
- Ahmad Shoaib
- Ahmed Hayat Tarig Abdelhafiz
- Ahmed Khalid
- Ahmed Sharwany
- Ahmed Shima
- Ahmed Usama
- Aisuodionoe-Shadrach Oseremen
- Aitken Sarah
- Ajenifuja Kayode
- Ajiya Abdulrazak
- Akeel Nouf
- Akin Emrah
- Akinajo Opeyemi
- Akinyemi Tosin
- Akrida Ioanna
- Aktokmakyan Talar Vartanoglu
- Akwaisah Ayoub
- Al Bettar Osama
- Al-Badawi Ismail A.
- Al-Juaifari Maytham
- Al-Khyatt Waleed
- Al-Mallah Abdullah
- Al-Nusairi Ahmed
- Al-Saadi Nina
- Al-Sayaghi Khaled
- Al-Shaiji Tariq
- Al-Shehari Mohammed
- Al-Touny Aiman
- Al-Touny Shimaa A.
- Aladawi Omar
- Aladna Abdallah
- Alali Mahmoud
- Alam Mahmood
- Alam Mohammed Shadrul
- Alarabi Rehab
- Alawneh Yazan
- Alayande Barnabas
- Albanese Erminia
- Albayadi Eslam
- Albdour Maram
- Alconchel Felipe
- Alderazi Amer
- Alegbeleye Bamidele
- Alekberli Tural
- Alemu Misganaw Alemu Adimass
- Alexander Philip
- Alfieri Alex
- Algahtany Khaled
- Algarni Kamal
- Alhamad Ameen
- Alhamid Mohammad
- Alharmi Rawan A. Rahman
- Alharthi Mohammed
- Alhazmi Barrag
- Ali Mohamed Shafi Mahboob
- Ali Stephen
- Alibrahim Hidar
- Aljaaly Hattan
- Aljaiuossi Anas
- Aljanadi Firas
- Aljiffry Murad
- Aljirdabi Noof
- Alkahlan Mohammed
- Alkhalifa Elmustafa
- Alkhatib Sondos
- Alkhatieb Maram
- Allan Anna
- Almarshad Felwa
- Almgla Naser
- Almhimid Ali
- Almiqlash Bushray
- Almoshantaf Mohammad Badr
- Almutairi Abdulmjeed
- Alnsour Abed Alfattah Mahmoud
- Alobied Majd
- Alomar Osama
- Alonso Jesús Aarón Martínez
- Alonso Manuel Diez
- Alonso Nestor Fabian Pedraza
- Alonso Veronica
- Alqallaf Abdullah
- Alqaseer Asma
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- Alsefri Maryam
- Alser Osaid
- Alsharif Mohammed
- Alsori Mohamed
- Altaf Abdulmalik
- Altinel Yuksel
- Altiner Saygin
- Altouny Ahmad
- Altun Demet
- Alvarez Natalia
- Alvarez-Lozada Luis Adrian
- Alvi Abdul
- Alwael Athari
- Alwash Mohammed
- Alyami Ziyad
- Alyousef Mohammed
- Alzahrani Saud
- Alzerwi Nasser
- Amin Shivang
- Amir Mohammed
- Ammar Ahmed Siddique
- Ammendola Michele
- Amores Remedios Revilla
- Amrayev Sultan
- Anastasiadou Sofia
- Ancans Guntis
- Anderson Caroline
- Andreani Lorenzo
- Andreotti Dario
- Andreuccetti Jacopo
- Andrianakis Alexandros
- Andro Christophe
- Anesi Alexandre
- Angamuthu Stephen
- Angeles Martina Aida
- Angelico Roberta
- Angelis Fragkiskos
- Angelou Dimitrios
- Angelou Kyveli
- Angulo Victor Pinto
- Anjum Arfa
- Anjum Muhammad Ayyub
- Annicchiarico Alfredo
- Anoldo Pietro
- Ansaloni Luca
- Anthoulakis Christos
- Antonelli Amedeo
- Anwar Mohamed
- Anwar Sumadi Lukman
- Anwer Mariyah
- Anyanwu Lofty-John
- Apostolou Christos
- Apostolou Konstantinos
- Appiah-Kubi Adu
- Aprea Giovanni
- Arbab Hana
- Archer James
- Ardura Francisco
- Aremu Muyiwa
- Arif Tahera
- Arkani Samara
- Armatura Giulia
- Armijos Daniel
- Arnaout Ali
- Arnaoutoglou Eleni
- Arnaud Alexis P.
- Arneja Jugpal
- Arrangoiz Rodrigo
- Arshad Muhammad
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- Asiimwe Daniel
- Asirifi Samuel Amoako
- Asla Amir
- Aslam Ramisha
- Aspide Raffaele
- Ataya Karim
- Ateca Ibabe Villalabeitia
- Atici Semra Demirli
- Atis Gokhan
- Atkins William
- Atkinson Kate
- Attwood Joseph
- Auerkari Aino
- Augestad Knut Magne
- Augustin Goran
- Aujayeb Avinash
- Avella Pasquale
- Awad Ahmed K.
- Awad Hadeel
- Awad Rabih
- Awad Selmy
- Ayad Kusay
- Ayana Birhanu
- Aydin Yener
- Ayeni Funbi
- Aytac Erman
- Azab Ahmed
- Azami Rizwan
- Azize Diallo Abdoul
- Azzam Ahmed Y.
- Azzis Olivier
- Baba Yabasin Iddrisu
- Babis George
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- Baeesa Saleh
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- Bafaquh Mohammed
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- Bahrami-Hessari Michael
- Baia Marco
- Baidoo Ebikela Ivie
- Bailey Karen
- Baili Efstratia
- Bains Lovenish
- Baiocchi Gian Luca
- Baiocchi Glauco
- Baiyewu Lateef Ayodele
- Bajaj Ankur
- Bajunaid Khalid
- Balagobi Balasingam
- Balasubramanian Ishwarya
- Balduzzi Alberto
- Baldwin Alexander
- Balla Andrea
- Balogh Zsolt J.
- Balogun James A.
- Balogun Simon
- Baloyiannis Ioannis
- Ban Vin Shen
- Bandyopadhyay Samik Kumar
- Bandyopadhyay Soham
- Banerjee Sumit
- Banipal Gurpreet Singh
- Banky Balazs
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- Barmayehvar Behrad
- Baroffio Paolo
- Barone Mirko
- Barra Fabio
- Barranquero Alberto G.
- Barugola Giuliano
- Basendowah Mohammed
- Bashir Mahmod
- Basnayake Oshan
- Bass Gary Alan
- Basu Somprakas
- Bateman Antony
- Bateman Kellie
- Batista Sylvia
- Batstone Martin
- Bauer Marlies
- Bauset Juan Carlos Catalá
- Bawa Ashvind
- Bawa Sayesha
- Bayhan Hüseyin
- Bayo Heura Llaquet
- Bazzi Nagham
- Beamish Andrew
- Beasley Nigel
- Beatty Jasmine Winter
- Becerra Angel
- Bedada Alemayehu Ginbo
- Bedzhanyan Arkady
- Begum Farzana
- Beisenov Bekzat
- Bellio Gabriele
- Bello Usman Mohammed
- Bellés Ana Ciscar
- Belzile Etienne
- Benamar Safia
- Bence Matthew
- Benshetrit Guy
- Bensoltane Khadidja
- Bergkvist David Julià
- Beristain-Hernandez Jose-Luis
- Bernante Paolo
- Bernardi Daniele
- Beron Reinaldo Isaacs
- Berselli Bruno
- Berselli Mattia
- Bertelli Giacomo
- Bertoglio Pietro
- Bertolaccini Luca
- Beswick Daniel
- Bette Birgit
- Bezirci Rifat
- Bhangu Aneel
- Bharathan Rasiah
- Bhat Vivek
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- Bianchi Valentina
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- Bianco Giuseppe
- Bijou Walid
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- Biloslavo Alan
- Bin Alhassan Baba Alhaji
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- Bissacco Daniele
- BİŞGİN TAYFUN
- Blair James
- Blanco Jose
- Blencowe Natalie
- Bloemers Frank
- Board Timothy
- Bobak Peter
- Boccalatte Luis
- Boedo Maria Jesus Maroño
- Bohmer Rob
- Boira Mar Achalandabaso
- Boisson Matthieu
- Boligo Sofia
- Bolton William
- Bombardini Cristina
- Bonavina Luigi
- Bonci Eduard-Alexandru
- Bondurri Andrea
- Bonilla Antonio Ramos
- Bonsaana Gilbert Batieka
- Booth L.
- Borg Elaine
- Borges Miguel Fróis
- Borges Nuno
- Bork Ulrich
- Borselle Dominika
- Bortul Marina
- Botelho Pedro
- Bottari Andrea
- Bouchagier Konstantinos
- Bouliaris Konstantinos
- Bowan Antoinette Bediako
- Bowen Joel
- Bozbiyik Osman
- Bracale Umberto
- Brachini Gioia
- Bramis Konstantinos
- Branagan Graham
- Branzan Daniela
- Brasset Camille
- Bratus Dejan
- Bravo Ana Maria Minaya
- Bravo Sybil Lizanne
- Bright Tim
- Brisinda Giuseppe
- Brodkin Edgar
- Broglia Alessandro
- Brolese Alberto
- Browning Rebecca
- Bruzzaniti Placido
- Brzeszczyński Filip
- Bsisu Isam
- Bua Emmanuel
- Budd Gabrielle
- Bukhari Syed Imran
- Bulian Dirk Rolf
- Bumbasirevic Uros
- Bumber Boris
- Burgos-Blasco Barbara
- Burlov Nikita
- Bussu Francesco
- Bàmbina Fabrizio
- Börner Nikolaus
- Böttcher Arne
- Cabeza Leticia
- Cabrera Marino
- Cais Simon
- Cakmak Guldeniz Karadeniz
- Calabretto Francesca
- Calabrò Marcello
- Calavia Pablo
- Calculli Federica
- Calini Giacomo
- Callan Rory
- Callcut Rachael
- Calu Valentin
- Calvache Jose Andres
- Calvache Nieto
- Calvo Francisco Javier Redondo
- Cama Jitoko
- Camacho Barbosa
- Camarena Ana Isabel Avellaneda
- Camargo-Parra Katherin
- Cammarata Emanuele
- Cammarata Francesco
- Cammarata Roberto
- Campagnaro Tommaso
- Campanelli Michela
- Campennì Paola
- Campisi Giuseppina
- Campo Flaminia
- Campuzano Nicolas
- Cano-Trigueros Emiliano
- Capella Stefano
- Capitan-Morales Luis-Cristobal
- Capobianco Mattia
- Capolupo Gabriella Teresa
- Capozzi Enrico
- Cappuccio Micaela
- Capuano Marianna
- Carannante Filippo
- Carbone Fabio
- Carbone Ludovico
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- Caricato Marco
- Carpenter Holly
- Carreras-Castañer Anna
- Carretero Manuel Moriche
- Caruana Edward J.
- Carvello Michele
- Casagranda Biagio
- Cassese Gianluca
- Cassinotti Elisa
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- Castaldi Antonio
- Castaño Mario
- Castaño-Leon Ana M.
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- Christodoulou Prokopis
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- Collins Michelle L.
- Colombari Renan Carlo
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- Conso Christel
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- Coppola Alessandro
- Coppola Federico
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- Creavin Ben
- Crichton Robert
- Critchley Rebecca
- Croghan Stefanie M.
- Cross George W. V.
- Cruz Ricardo Pedrini
- Cucinella Giuseppe
- Cullinane Carolyn
- Cullis Paul
- Cunha Miguel F.
- Cunningham Brian
- Currò Giuseppe
- Cuthbert Rory
- Cutmore Carina
- Czako Ladislav
- Cáceres Freud
- D'Acapito Fabrizio
- D'Addino José Luis
- D'Amico Alessia
- D'Amore Anna
- D'Andrea Giancarlo
- D'Archi Sabatino
- D'Oria Mario
- D'Sa Prashanth
- Daddi Niccolo'
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- Daketsey Elorm
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- Das Sunit
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- Davidescu Mihnea
- Davies Jessica
- Davies Mark
- Davies Richard Justin
- Davis Amelia
- Dawson Amanda Caroline
- Dawson Jonathon
- Dbouk Samer
- De Alarcón Jaime Rodríguez
- De Andrés-Asenjo Beatriz
- De Bacco Marangon Gustavo
- De Campos Prado Caio Antonio
- De Cillia Michael
- De Haro Jorge Irene
- De Haro Joaquin
- De Jesus Labrador Hernandez Gregorio
- De La Infiesta García Carlos
- De La Medina Antonio Ramos
- De La Rosa-Estadella Marta
- De Nardi Paola
- De Oliveira Gabriel Paiva
- De Pastena Matteo
- De Simone Veronica
- De Sousa Álvaro Francisco Lopes
- De Vega Sánchez Blanca
- De Virgilio Armando
- De Zuanni Marco
- Dean Yomna
- Degarege Dawit
- Degener Stephan
- Dejeu George
- Del Amo María Dolores Arribas
- Dell Angela
- Demetrashvili Zaza
- Demetriades Andreas K
- Demetriou Charis
- Demir Sebahattin
- Dennis Rory
- Deputy Mohammed
- Derilo Habtamu
- Des Déserts Marc Danguy
- Desai Chaitya
- Desio Matteo
- Dessalegn Megbar
- Devarakonda Sreekar
- Dewan Michael
- Dewan Varun
- Dhaity Guipson Dhaity
- Dhondt Bert
- Di Bartolomeo Mattia
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- Oung Thida
- Oyinloye Oluwaseun
- Ozair Ahmad
- Ozkan Omer Faruk
- Ozmen Berk Baris
- Paal Peter
- Pachajoa Diana Alejandra Pantoja
- Pacheco Glenda Marina Falcon
- Pacilio Carlo Alberto
- Pacilli Maurizio
- Padmore Greg
- Page Richard
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- Panahi Pedram
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- Pang Tony
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- Paranyak Mykola
- Paraskevas Kosmas I.
- Paraskevopoulos Konstantinos
- Parini Sara
- Park James
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- Payne Rachel
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- Spiers Harry V. M.
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- Stogowski Piotr Tomasz
- Stoleriu Mircea Gabriel
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- Strotmann Johanna Josefine
- Stroumpoulis Konstantinos
- Su Yu-Xiong
- Suarez Sara Busto
- Subramani Yamini
- Subramaniam Sentilnathan
- Sue-Chue-Lam Colin
- Suer Muhammed Salih
- Sulaiman Bilal
- Sultania Mahesh
- Sundarraju Shalini
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- Tarek Ahmed
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- Tawalbeh Ra'Fat
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- Tejero-Pintor Francisco J.
- Tellez Karla Susana Martin
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- Thuduvage Vasanthika
- Thumbadoo Ruben
- Tian Sarah
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- Tucker Olga
- Tuech Jean Jacques
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- Ulman Elif Akbas
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- Urriza Pablo Vallés
- Usman Muhammad
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- Vagena Xanthoula
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- Valanci Sofia
- Valdespino Cristina Puentes
- Valeanu Liana
- Valioulis Ioannis
- Valladares Sergio Chávez
- Vallve-Bernal Marc
- Van Acker Jill
- Van Den Eynde Jef
- Van Goor Harry
- Van Vliet Helen
- Van Wyk Naomi Natasha
- Vanni Camilla
- Vas Aurelia
- Vasarhelyi Edward
- Vaschetti Roberto
- Vassiliu Panteleimon
- Vatansever Dogan
- Vatish Jamie
- Vaughan-Shaw Peter G.
- Vaysburg Dennis
- Veglia Antonella
- Velten Markus
- Velázquez Maria Jose Martinez
- Venkatappa Sunil Kumar
- Venketeswaran Meenakshi
- Venskutonis Donatas
- Verbic Milena Senica
- Verdi Daunia
- Vergara-Fernandez Omar
- Verhoeff Kevin
- Veroux Massimiliano
- Verras Georgios-Ioannis
- Verre Luigi
- Vida Lucian
- Vidya Raghavan
- Viglietta Edoardo
- Vijay Vardhini
- Vijgen Guy
- Vilaró Blanca Capdevila
- Villanueva Julio
- Vilz Tim O.
- Vincent Elizabeth
- Vinci Danilo
- Viola Simona
- Violante Tommaso
- Vishnoi Jeewan Ram
- Vissapragada Ravi
- Vivancos Laura Guillamon
- Vives Josep Maria Muñoz
- Vizzielli Giuseppe
- Vohra Lubna
- Vokshi Ismail
- Vosinakis Christos
- Vásquez Javier Alberto Gutiérrez
- Vázquez Gil
- Vázquez Irene Ortega
- Vǎcǎraşu Andrei Bogdan
- Wade Ryckie
- Wafi Omar
- Wagner Gabriela
- Wallis Christopher
- Wanjara Samuel
- Waqar Shahzad Hussain
- Warden Claire
- Warner Christian
- Wasim D.
- Wason Shaun
- Wasserman Isaac
- Watcyn-Jones Tom
- Waterson Ben
- Watson David
- Watson Matthew
- Weber Clemens
- Wheatstone P.
- Wheeler James
- Wheldon Luke
- White Michelle
- White Stuart
- White William
- Wickramasinghe Dakshitha
- Widmer Lukas Werner
- Wiedemann Dominik
- Wiesinger Clemens Georg
- Wijekoon Naveen
- Wijenayake Wasantha
- Wijeyaratne Manuk
- Wijeysundera Duminda
- Wiles Matthew
- Wilkin Richard
- Wilkins Alex
- Wilkins James
- William Tinka George
- Williams Omolara Modupe
- Williams Shekinah
- Windsor John
- Winnand Philipp
- Wittmann Maria
- Wolde Amanuel
- Wolfenden John W. D.
- Wong Benjamin Ngie Xiong
- Wong Enoch
- Wong Evan G.
- Wong George Kwok Chu
- Wong Ho Ying Flora
- Wong Kai Yuen
- Wormald Justin
- Wright Deborah
- Wright Joshua
- Wu Fiona
- Wurm Markus
- Xenaki Sofia
- Yadev Ip
- Yahaya Ahmad Shuib
- Yakubu Mustapha
- Yang Wah
- Yanik Özge
- Yanowsky-Reyes Guillermo
- Yassin Abubaker
- Yates Elizabeth
- Yebes Alvaro
- Yenli Edwin Mwintiereh Ta-Ang
- Yeoh Tien
- Yeung Justin
- Yiallourou Anneza
- Yigit Banu
- Yildirim Asif
- Yim Guang
- Yiu Andrew
- Yonekura Hiroshi
- Yotsov Tsanko
- Younis Muhammad Umar
- Yunus Alif
- Yusefi Hossein
- Zabaleta Jon
- Zabkiewicz Catheriner
- Zaccaria Giulia
- Zacharia Bincy
- Zafar Syed Nabeel
- Zago Mauro
- Zaheen Zakia
- Zahid Zahra
- Zaimis Tilemachos
- Zakaria Andee Dzulkarnaen
- Zambon Martina
- Zamora Lindsey
- Zampogna Biagio
- Zancana Giuseppa
- Zani Augusto
- Zanin Luca
- Zanini Nicola
- Zapardiel Ignacio
- Zapata Carlos Shiraishi
- Zarif Pierre
- Zaránd Attila
- Zehnder Philipp
- Zenger Serkan
- Zenha Horácio
- Zhu Michael Z. L.
- Ziemann Sebastian
- Zimak Danijela Mrazovac
- Zimak Zoran
- Zivkovic Dragana
- Zizzo Maurizio
- Zucker Benjamin
- Zwain Yasir
- Zyskowski Michael
- Ávila Clara Castro
- Älgå Andreas
- Çakici Mehmet Çaǧlar
- Çelik Enes
- Çelik Meryem Nur
- Özçay Necdet
- Şevik Hüsnü
- Šantak Goran
- Šimko Kristián
- Žatecký Jan
- Publication venue
- 'Oxford University Press (OUP)'
- Publication date
- 01/01/2023
- Field of study
Abstract
Background
Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres.
Methods
This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries.
Results
In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia.
Conclusion
This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries
New insights into the genetic etiology of Alzheimer's disease and related dementias
- 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. © 2022. The Author(s)
Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes.
- Author
- Aguilar-Salinas Carlos A
- Antonacci-Fulton Lucinda
- Ardissino Diego
- Arnett Donna K
- Aslibekyan Stella
- Atzmon Gil
- Ballantyne Christie M
- Barajas-Olmos Francisco
- Barzilai Nir
- Becker Lewis C
- Bielak Lawrence F
- Bis Joshua C
- Blangero John
- Boehnke Michael
- Boerwinkle Eric
- Bonnycastle Lori L
- Bottinger Erwin
- Bowden Donald W
- Bown Matthew J
- Brody Jennifer A
- Broome Jai G
- Burtt Noël P
- Cade Brian E
- Centeno-Cruz Federico
- Chaffin Mark D
- Chan Edmund
- Chang Yi-Cheng
- Chen Yii-Der I
- Cheng Ching-Yu
- Choi Won Jung
- Chowdhury Rajiv
- Contreras-Cubas Cecilia
- Correa Adolfo
- Cupples L Adrienne
- Curran Joanne E
- Córdova Emilio J
- Danesh John
- de Vries Paul S
- DeFronzo Ralph A
- Doddapaneni Harsha
- Dornbos Peter
- Duggirala Ravindranath
- Dutcher Susan K
- Ellinor Patrick T
- Emery Leslie S
- Flannick Jason A
- Florez Jose C
- Fornage Myriam
- Freedman Barry I
- Fuster Valentin
- Garay-Sevilla Ma Eugenia
- García-Ortiz Humberto
- Germer Soren
- Gibbs Richard A
- Gieger Christian
- Glaser Benjamin
- Gonzalez Clicerio
- Gonzalez-Villalpando Maria Elena
- Graff Mariaelisa
- Graham Sarah E
- Grarup Niels
- Groop Leif C
- Guo Xiuqing
- Gupta Namrata
- Han Sohee
- Hanis Craig L
- Hansen Torben
- He Jiang
- Heard-Costa Nancy L
- Hindy George
- Hung Yi-Jen
- Hwang Mi Yeong
- Irvin Marguerite R
- Islas-Andrade Sergio
- Jarvik Gail P
- Kang Hyun Min
- Kardia Sharon L R
- Kathiresan Sekar
- Kelly Tanika
- Kenny Eimear E
- Khan Alyna T
- Khera Amit V
- Kim Bong-Jo
- Kim Ryan W
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- Koistinen Heikki A
- Kooperberg Charles
- Kuusisto Johanna
- Kwak Soo Heon
- Laakso Markku
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- Lee Jiwon
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- Lehman Donna M
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- Linneberg Allan
- Liu Dajiang J
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- Viaud Martinez Karine A
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- Wang Xuzhi
- Watkins Hugh
- Weeks Daniel E
- Willer Cristen J
- Wilson James G
- Witte Daniel R
- Wong Tien-Yin
- Yanek Lisa R
- Zhang David
- Publication venue
- 'Elsevier BV'
- Publication date
- 06/01/2022
- Field of study
Large-scale gene sequencing studies for complex traits have the potential to identify causal genes with therapeutic implications. We performed gene-based association testing of blood lipid levels with rare (minor allele frequency 170,000 individuals from multiple ancestries: 97,493 European, 30,025 South Asian, 16,507 African, 16,440 Hispanic/Latino, 10,420 East Asian, and 1,182 Samoan. We identified 35 genes associated with circulating lipid levels; some of these genes have not been previously associated with lipid levels when using rare coding variation from population-based samples. We prioritize 32 genes in array-based genome-wide association study (GWAS) loci based on aggregations of rare coding variants; three (EVI5, SH2B3, and PLIN1) had no prior association of rare coding variants with lipid levels. Most of our associated genes showed evidence of association among multiple ancestries. Finally, we observed an enrichment of gene-based associations for low-density lipoprotein cholesterol drug target genes and for genes closest to GWAS index single-nucleotide polymorphisms (SNPs). Our results demonstrate that gene-based associations can be beneficial for drug target development and provide evidence that the gene closest to the array-based GWAS index SNP is often the functional gene for blood lipid levels.This work was supported by a grant from the Swedish Research
Council (2016-06830) and grants from the National Heart, Lung,
and Blood Institute (NHLBI): R01HL142711 and R01HL127564.
Please refer to the supplemental information for the full
acknowledgements.S
New insights into the genetic etiology of Alzheimer’s disease and related dementias
- Publication venue
- 'Springer Science and Business Media LLC'
- 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. © 2022, The Author(s)
New insights into the genetic etiology of Alzheimer’s disease and related dementias
- Author
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- Aaltonen L.
- Aaltonen V.
- Aarno Palotie
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- Terhi Ollila
- Tero Hiekkalinna
- Terttu Harju
- Tesí N.
- Teumer A.
- Thalamuthu A.
- Thomas A.
- Thomas C.
- Thomas D Bird
- Thomas Feulner
- Thomas G Beach
- Thomas J Fairchild
- Thomas J Grabowski
- Thomas J Montine
- Thomas S Wingo
- Thomas T.
- Thomas Wisniewski
- Thomassen J. Q.
- Thonberg H.
- Tienari P.
- Tiffany F Kautz
- Tiina Laatikainen
- Tiinamaija Tuomi
- Tilson J. L.
- Tim Becker
- Tim Behrens
- Tim Lu
- Timo Blomster
- Timo P Sipilä
- Timo Strandberg
- Timothy Hohman
- Timothy Hughes
- Tin A.
- Todd S.
- Tomas Paus
- Tomi Mäkelä
- Toso C. R.
- Tosto G.
- Traykov L.
- Tremolizzo L.
- Trojanowski J. Q.
- Troncoso J. C.
- Trung Nguyen
- Tsai E.
- Tsolaki A.
- Tsolaki M.
- Tsuang D. W.
- Tsuo K.
- Tucker-Drob E.
- Tukiainen T.
- Tuomi T.
- Tuomilehto J.
- Tuomo Kiiskinen
- Tuomo Mantere
- Tuomo Meretoja
- Tuovila O.
- Turpeinen M.
- Turton J.
- Turunen J. A.
- Tushar Bhangale
- Tuula Salo
- Tuuli Sistonen
- Tybjærg-Hansen A.
- Tzourio C.
- Tárraga L.
- Uitterlinden A.
- Ulla Palotie
- Ullgren A.
- Ulstein I.
- Ulvi Gursoy
- Uphill J.
- Urho Kujala
- Usiskin K.
- Uusitalo H.
- Uusitalo-Järvinen H.
- Vacca A.
- Vaclav Matoska
- Vainio S.
- Valentina Ciullo
- Valeria Cores
- Valero S.
- Valladares O.
- Valladares O.
- Valory Pavlik
- Valtteri Julkunen
- van Adelsberg J.
- Van Deerlin V. M.
- van den Bussche H.
- van der Flier W. M.
- van der Lee S. J.
- van der Lugt A.
- van Duijn C. M.
- van Eldik L. J.
- van Lent D. M.
- van Rooij J.
- van Swieten J.
- Vance J.
- Vandenberghe R.
- Vardarajan B. N.
- Vardy E.
- Vargas L.
- Vassar R.
- Veikko Salomaa
- Veli-Matti Kosma
- Venkat Subramaniam Rathinakannan
- Verhey F.
- Vesa Aaltonen
- Vicente M. P.
- Victor W Henderson
- Victoria Fernandez-Hernandez
- Victoria Perez
- Victoriana Martínez
- Vidal J. -S.
- Vigo-Ortega R.
- Vilas R. H.
- Vinay Mehta
- Vincent Deramecourt
- Vincent Deramerourt
- Vincent Llorens
- Vinters H. V.
- Virolainen P.
- Vivancos L.
- Vivianna M Van Deerlin
- Vogelgsang J.
- Vojinovic D.
- Vonsattel J. -P.
- Voutilainen M.
- Vuokko Anttonen
- Vyhnalek M.
- Wadhawan S.
- Wagner M.
- Wallon D.
- Wang C.
- Wang L. -S.
- Wang R.
- Wang Y.
- Warden D.
- Waring J.
- Waring J.
- Warner N.
- Warren J. D.
- Waterworth D.
- Wayne C McCormick
- Wayne W Poon
- Weber H.
- Wei Gu
- Wei Zhou
- Weinhold L.
- Weinstein G.
- Weintraub S.
- Welsh-Bohmer K. A.
- Whelan C.
- Whitehead P. L.
- Wichmann H. -E.
- Wigmore E.
- Wijsman E. M.
- Wilcock G.
- Wilhelmsen K. C.
- Will S Bush
- William Kremen
- William Nash
- William W Seeley
- Williams A.
- Williams B.
- Williams D.
- Williams J.
- Williamson J.
- Wilms H.
- Wiltfang J.
- Windle G.
- Wingo T. S.
- Wisniewski T.
- Wittfeld K.
- Woltjer R. L.
- Wong R.
- Woods B.
- Woon M.
- Wright C. B.
- Wu C. -K.
- Wu Y.
- Xia T. -H.
- Xing Chen
- Xinli Hu
- Xiongwei Zhu
- Xu E.
- Xu F.
- Xuan Liu
- Yanbing Wang
- Yanek L.
- Yang Q.
- Yang Y.
- Yannakoulia M.
- Yaqub A.
- Yasaman Saba
- Yash Patel
- Yeunjoo E Song
- Yi Zhao
- Ying Wu
- Yoav Ben-Shlomo
- Yogen Patel
- Younkin S. G.
- Yu C. -E.
- Yu L.
- Yuanchao Zhang
- Yuk Yee Leung
- Yunfeng Huang
- Yunju Yang
- Zare H.
- Zdenka Pausova
- Zhang X.
- Zhang Y.
- Zhao Y.
- Zhao Y.
- Zhou W.
- Zhu C.
- Zhu X.
- Ziemann A.
- Zoia C. P.
- Zompo M. D.
- Zulaica M.
- Zulma Sevillano
- Álvarez V.
- Åsa Hedman
- Publication venue
- 'Springer Science and Business Media LLC'
- 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
Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes.
- Author
- Aguilar-Salinas Carlos A.
- Antonacci-Fulton Lucinda
- Ardissino Diego
- Arnett Donna K.
- Aslibekyan Stella
- Atzmon Gil
- Ballantyne Christie M.
- Barajas-Olmos Francisco
- Barzilai Nir
- Becker Lewis C.
- Bielak Lawrence F.
- Bis Joshua C.
- Blangero John
- Boehnke Michael
- Boerwinkle Eric
- Bonnycastle Lori L.
- Bottinger Erwin
- Bowden Donald W.
- Bown Matthew J.
- Brody Jennifer A.
- Broome Jai G.
- Burtt Noël P.
- Cade Brian E.
- Centeno-Cruz Federico
- Chaffin Mark D.
- Chan Edmund
- Chang Yi-Cheng
- Chen Yii-Der I.
- Cheng Ching-Yu
- Choi Won Jung
- Chowdhury Rajiv
- Contreras-Cubas Cecilia
- Correa Adolfo
- Cupples L. Adrienne
- Curran Joanne E.
- Córdova Emilio J.
- Danesh John
- de Vries Paul S.
- DeFronzo Ralph A.
- Doddapaneni Harsha
- Dornbos Peter
- Duggirala Ravindranath
- Dutcher Susan K.
- Ellinor Patrick T.
- Emery Leslie S.
- Flannick Jason A.
- Florez Jose C.
- Fornage Myriam
- Freedman Barry I.
- Fuster Valentin
- Garay-Sevilla Ma. Eugenia
- García-Ortiz Humberto
- Germer Soren
- Gibbs Richard A.
- Gieger Christian
- Glaser Benjamin
- Gonzalez Clicerio
- Gonzalez-Villalpando Maria Elena
- Graff Mariaelisa
- Graham Sarah E.
- Grarup Niels
- Groop Leif C.
- Guo Xiuqing
- Gupta Namrata
- Han Sohee
- Hanis Craig L.
- Hansen Torben
- He Jiang
- Heard-Costa Nancy L.
- Hindy George
- Hung Yi-Jen
- Hwang Mi Yeong
- Irvin Marguerite R.
- Islas-Andrade Sergio
- Jarvik Gail P.
- Kang Hyun Min
- Kardia Sharon L.R.
- Kathiresan Sekar
- Kelly Tanika
- Kenny Eimear E.
- Khan Alyna T.
- Khera Amit V.
- Kim Bong-Jo
- Kim Ryan W.
- Kim Young Jin
- Koistinen Heikki A.
- Kooperberg Charles
- Kuusisto Johanna
- Kwak Soo Heon
- Laakso Markku
- Lange Leslie A.
- Lee Jiwon
- Lee Juyoung
- Lee Seonwook
- Lehman Donna M.
- Lemaitre Rozenn N.
- Linneberg Allan
- Liu Dajiang J.
- Liu Jianjun
- Loos Ruth J.F.
- Lubitz Steven A.
- Lyssenko Valeriya
- Ma Ronald C.W.
- Martin Lisa Warsinger
- Martínez-Hernández Angélica
- Mathias Rasika A.
- McCarthy Mark I.
- McGarvey Stephen T.
- McPherson Ruth
- Meigs James B.
- Meitinger Thomas
- Melander Olle
- Mendoza-Caamal Elvia
- Metcalf Ginger A.
- Mi Xuenan
- Mohlke Karen L.
- Montasser May E.
- Moon Jee-Young
- Moreno-Macías Hortensia
- Morrison Alanna C.
- Muzny Donna M.
- Natarajan Pradeep
- Nelson Sarah C.
- Nilsson Peter M.
- Orho-Melander Marju
- Orozco Lorena
- O’Connell Jeffrey R.
- Palmer Colin N.A.
- Palmer Nicholette D.
- Park Cheol Joo
- Park Joseph
- Park Kyong Soo
- Pedersen Oluf
- Peloso Gina M.
- Peralta Juan M.
- Peyser Patricia A.
- Post Wendy S.
- Preuss Michael
- Psaty Bruce M.
- Qi Qibin
- Rader Daniel J.
- Rao D.C.
- Redline Susan
- Reiner Alexander P.
- Revilla-Monsalve Cristina
- Rich Stephen S.
- Rotter Jerome I.
- Samani Nilesh
- Schunkert Heribert
- Schurmann Claudia
- Selvaraj Margaret Sunitha
- Seo Daekwan
- Seo Jeong-Sun
- Sim Xueling
- Sladek Rob
- Small Kerrin S.
- So Wing Yee
- Stilp Adrienne M.
- Tai E. Shyong
- Tam Claudia H.T.
- Taylor Kent D.
- Teo Yik Ying
- Thameem Farook
- Tomlinson Brian
- Tsai Michael Y.
- Tuomi Tiinamaija
- Tuomilehto Jaakko
- Tusié-Luna Teresa
- Udler Miriam S.
- van Dam Rob M.
- Vasan Ramachandran S.
- Viaud Martinez Karine A.
- Wang Fei Fei
- Wang Minxian
- Wang Xuzhi
- Watkins Hugh
- Weeks Daniel E.
- Willer Cristen J.
- Wilson James G.
- Witte Daniel R.
- Wong Tien-Yin
- Yanek Lisa R.
- Zhang David
- Publication venue
- 'Elsevier BV'
- Publication date
- 20/12/2021
- Field of study
Large-scale gene sequencing studies for complex traits have the potential to identify causal genes with therapeutic implications. We performed gene-based association testing of blood lipid levels with rare (minor allele frequency 170,000 individuals from multiple ancestries: 97,493 European, 30,025 South Asian, 16,507 African, 16,440 Hispanic/Latino, 10,420 East Asian, and 1,182 Samoan. We identified 35 genes associated with circulating lipid levels; some of these genes have not been previously associated with lipid levels when using rare coding variation from population-based samples. We prioritize 32 genes in array-based genome-wide association study (GWAS) loci based on aggregations of rare coding variants; three (EVI5, SH2B3, and PLIN1) had no prior association of rare coding variants with lipid levels. Most of our associated genes showed evidence of association among multiple ancestries. Finally, we observed an enrichment of gene-based associations for low-density lipoprotein cholesterol drug target genes and for genes closest to GWAS index single-nucleotide polymorphisms (SNPs). Our results demonstrate that gene-based associations can be beneficial for drug target development and provide evidence that the gene closest to the array-based GWAS index SNP is often the functional gene for blood lipid levels