5 research outputs found
Large-scale phenotyping of patients with long COVID post-hospitalization reveals mechanistic subtypes of disease
- Author
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- Publication venue
- Springer Science and Business Media LLC
- Publication date
- 01/04/2024
- Field of study
One in ten severe acute respiratory syndrome coronavirus 2 infections result in prolonged symptoms termed long coronavirus disease (COVID), yet disease phenotypes and mechanisms are poorly understood1. Here we profiled 368 plasma proteins in 657 participants ≥3 months following hospitalization. Of these, 426 had at least one long COVID symptom and 233 had fully recovered. Elevated markers of myeloid inflammation and complement activation were associated with long COVID. IL-1R2, MATN2 and COLEC12 were associated with cardiorespiratory symptoms, fatigue and anxiety/depression; MATN2, CSF3 and C1QA were elevated in gastrointestinal symptoms and C1QA was elevated in cognitive impairment. Additional markers of alterations in nerve tissue repair (SPON-1 and NFASC) were elevated in those with cognitive impairment and SCG3, suggestive of brain–gut axis disturbance, was elevated in gastrointestinal symptoms. Severe acute respiratory syndrome coronavirus 2-specific immunoglobulin G (IgG) was persistently elevated in some individuals with long COVID, but virus was not detected in sputum. Analysis of inflammatory markers in nasal fluids showed no association with symptoms. Our study aimed to understand inflammatory processes that underlie long COVID and was not designed for biomarker discovery. Our findings suggest that specific inflammatory pathways related to tissue damage are implicated in subtypes of long COVID, which might be targeted in future therapeutic trials
Cross-Field Effects and Ethnic Classification
- Author
- Acuna Rodolfo F.
- Baker John
- Barth Frederik
- Beale Steve
- Bean Frank D.
- Bergsman Steve
- Bernal Antonio
- Boltanski Luc
- Boyarsky Bill
- Clemens Elisabeth S.
- Cornell Stephen
- De La Garza Rodolfo
- de Uriate Mercedes
- Dávila Arlene
- Edward Burks
- Enloe Cynthia
- Eriksen Thomas H.
- Espiritu Yen Le
- Espiritu Yen Le
- Foley Thomas J.
- Fraga Luis R.
- Fullerton Jose Lozano
- Garcia John A.
- Garcia Mario T.
- Goldberg David T.
- Graham Hugh D.
- Guernica Antonio
- Hattam Victoria
- Hernandez Jose
- Horowitz Donald
- Idler Jose E.
- Jenkins Richard
- Kaplowitz Craig A.
- Kertzer David I.
- Kihiss Peter
- Marquez Benjamin
- Melendez Miguel
- Minkoff Debra C.
- Moore Joan W.
- Navarro Armando
- Nobles Melissa
- Oboler Suzanne
- Padilla Felix M.
- Petersen William
- Pike Frederick.
- Portes Alejandro
- Quiñones Juan Gómez
- Ramos Jorge
- Ramos Jorge
- Rendon Armando
- Ricourt Milagros
- Rodriguez America
- Rodriguez Clara E.
- Rosenthal Jack
- Rossman Martin
- Sinclair John D.
- Skerry Peter
- Skrentny John
- Starr Paul
- Torres Andres
- Valdes Isabel M.
- Valdivia Angharad
- Valenzuela Nicolas
- Yzaguirre Raul
- Publication venue
- 'SAGE Publications'
- Publication date
- Field of study
Mapping the human genetic architecture of COVID-19
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- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2021
- Field of study
The genetic make-up of an individual contributes to the susceptibility and response to viral infection. Although environmental, clinical and social factors have a role in the chance of exposure to SARS-CoV-2 and the severity of COVID-191,2, host genetics may also be important. Identifying host-specific genetic factors may reveal biological mechanisms of therapeutic relevance and clarify causal relationships of modifiable environmental risk factors for SARS-CoV-2 infection and outcomes. We formed a global network of researchers to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity. Here we describe the results of three genome-wide association meta-analyses that consist of up to 49,562 patients with COVID-19 from 46 studies across 19 countries. We report 13 genome-wide significant loci that are associated with SARS-CoV-2 infection or severe manifestations of COVID-19. Several of these loci correspond to previously documented associations to lung or autoimmune and inflammatory diseases3–7. They also represent potentially actionable mechanisms in response to infection. Mendelian randomization analyses support a causal role for smoking and body-mass index for severe COVID-19 although not for type II diabetes. The identification of novel host genetic factors associated with COVID-19 was made possible by the community of human genetics researchers coming together to prioritize the sharing of data, results, resources and analytical frameworks. This working model of international collaboration underscores what is possible for future genetic discoveries in emerging pandemics, or indeed for any complex human disease
Clinical and genetic characteristics of late-onset Huntington's disease
- Author
- Aanonsen Nils Olaf
- Aaserud Olaf
- Abbruzzese Giovanni
- Acera Gil Maria Angeles
- Ackermann Oda
- Adarmes Astrid
- Agarwal Veena
- Agosti Chiara
- Akhtar Shahbana
- Alaerts Nick
- Alarcón María Dolores
- Albanese Alberto (ORCID:0000-0002-5864-0006)
- Allain Philippe
- Almagro Carmen Antúnez
- Almeida Manuel
- Alonso-Frech Fernando
- Alusi Sundus
- Anderson Mary
- Andersson Christian
- Andrade Carlos
- Andrew Alyson
- Andrews Thomasin
- Andrews Thomasin
- Andrich Jürgen
- Anheim Mathieu
- Anjum Uruj
- Anna Bryl Jacek Anioła
- Annic Agnès
- Antczak Jakub
- Antequera Torres María Martirio
- Antonova Victoria
- Arbelo José Matías
- Arkuszewski Michał
- Armstrong Richard
- Armstrong Richard
- Arntsen Vibeke
- Arques Penelope Navas
- Arran Natalie
- Azulay Jean-Philippe
- Baake Verena
- Babiloni Blandine
- Bachmeier Michael
- Bachoud-Lévi Anne-Catherine
- Bachoud-Lévi Anne-Catherine
- Badei Farideh
- Bailey Wendy
- Banaszkiewicz Krzysztof
- Bandettini di Poggio Monica
- Bandmann Oliver
- Barbera Miquel Aguilar
- Barker Roger A.
- Barlati Sergio
- Barral Verónica Mañanes
- Barrero Francisco
- Barrett Wendy
- Barth Katrin
- Barth Katrin
- Barthélémy Recka
- Bartoli Caterina
- Barun Nadia
- Bas Jordi
- Bascuñana Mónica
- Becanovic Kristina
- Bechtel Natalie
- Beckmann Heike
- Bek Judith
- Bellonet Marcellin
- Benaich Sandra
- Benaminov Stanislav
- Benito Dolors Moragues
- Bentivoglio Anna Rita (ORCID:0000-0002-9663-095X)
- Bentivoglio Anna-Rita
- Berglund Maria
- Berglund Måns
- Berglund Peter
- Bergmann Ulrike
- Bernal-Escudero Maravilla
- Bernard Tomáš
- Bertini Elisabetta
- Bethwaite Pamela
- Betz Sabrina
- Beuth Markus
- Bezdíček Ondřej
- Bijlsma Emilia K.
- Bioux Sandrine
- Biunno Ida
- Björnsson Elisabeth
- Bjørgo Kathrine
- Bjørnevoll Inga
- Bled Déborah
- Bliaux Evangeline
- Blin Stéphanie
- Blinkenberg Ellen Økland
- Blondeau Leily
- Boczarska-Jedynak Magdalena
- Boelmans Kai
- Bohlen Stefan
- Boissé Marie-Françoise
- Bojakowska-Jaremek Kamila
- Bojarsky Jaime Kulisevsky
- Bonelli Raphael M.
- Bonelli Raphael M.
- Bonelli Raphael M.
- Bonneau Dominique
- Boogaerts Andrea
- Boogaerts Andrea
- Borgerød Nancy
- Bos Reineke
- Bos Reineke
- Bosca Maria
- Bosredon Cecile
- Bost Marie
- Boster Sarah
- Boudali Lotfi
- Bove Francesco
- Boćwińska Dorota
- Bradbury Alyson
- Braunwarth Eva-Maria
- Brice Alexis
- Brockie Peter
- Bronzova Juliana
- Brown Pauline
- Brugada Francisco Castera
- Brugger Florian
- Bruno Stefania
- Bruun Anu
- Buchanan Lindsay
- Buck Andrea
- Buongiorno María Teresa
- Buratti Lisa
- Burguera Juan Andres
- Burgunder Jean-Marc
- Burgunder Jean-Marc
- Burgunder Jean-Marc
- Burn John
- Burrows Liz
- Busquets Núria
- Busse Monica
- Butcher Cynthia
- Bárcenas Antonio Herranz
- Böringer Regina
- Bürk Katrin
- Błaszczyk Magdalena
- Cabaret Maryline
- Calado Ana
- Calandra-Buonaura Giovanna
- Caldentey Juan García
- Caldentey Juan García
- Caldentey Juan García
- Callaghan Jenny
- Callaghan Jenny
- Callaghan Jenny
- Calmeyn Godelinde
- Calopa Matilde
- Calvas Fabienne
- Calzado Noemi
- Campolongo Antonia
- Cannella Milena
- Capellari Sabina
- Capetian Philipp
- Capodarca Selene
- Cardoso Helena
- Carette Anne-Sophie
- Carrillo Fátima
- Carrière Nicolas
- Carruesco Gemma Tome
- Casado Rocío Villagrán
- Cass Ginette
- Castagliuolo Simona
- Castaldo Anna
- Catalli Claudio
- Catena Judit López
- Cavaco Sara
- Cação Gonçalo
- Charles Perrine
- Charpentier Sébastien
- Chen Simone
- Cheriet Samia
- Chiara Piccininni
- Chu Carol
- Chu Elvina
- Chu Elvina
- Ciach-Wysocka Ewelina
- Ciesielska Anna
- Classen Serge Jaumà
- Clayton Carole
- Clenaghan Catherine
- Cleret de Langavant Laurent
- Coarelli Giulia
- Codella Valentina
- Coebergh Jan
- Coelho Miguel
- Coleman Caroline
- Come Adrien
- Compostella Silvia
- Connemann Julia
- Constant Eric
- Constantinescu Radu
- Cormio Claudia
- Corrales Koldo Berganzo
- Cortelli Pietro
- Cosgrove Jeremy
- Costa Andreia
- Costa Cristina
- Coulthard Elizabeth
- Couttier Julien
- Craufurd David
- Craven Janet
- Craven Janet
- Crooks Jenny
- Cubillo Patricia Trigo
- Cubillo Patricia Trigo
- Cubo Esther
- Curtis Adrienne
- D'Alessio Barbara
- Damásio Joana
- Davidson Lynn
- Davies Rhys
- Davison Jill
- De Bruycker Christelle
- de Die-Smulders Christine EM.
- De Gregorio Francesca
- De Michele Giuseppe
- De Nicola Annunziata
- de Raedt Sylvie
- de Souza (Keylock) Jenny
- de Tommaso Marina
- Debilly Bérengère
- Debruxelles Sabrina
- Dec Małgorzata
- Decorte Eric
- Dedichá Nadia Rodríguez
- Defebvre Luc
- Deith Catherine
- Dekker Meike
- Delabaere Helène
- Delaigue Christine
- Delfini Marie
- Delliaux Marie
- Delval Arnaud
- Delvaux Isabelle
- Demonet Jean-François
- Depelchin Alizé
- Derost Philippe
- Descals Asunción Martínez
- Destee Alain
- Dewulf-Pasz Nelly
- Di Bella Daniela
- Di Donato Stefano
- Di Giacopo Raffaella
- Di Maio Luigi
- Di Maria Emilio
- Di Renzo Martina
- Diago Elena Bellosta
- Dias Margarida
- Diercks Gabriele
- Difruscolo Olimpia
- Dipple Heather
- Dixon Kathryn
- Dixon Kathryn
- Diéguez Esther
- Doherty Karen
- Dondaine Thibaut
- Donovan John O.
- Dose Matthias
- Dougherty Andrew
- Downie Lorna
- Dramstad Elisabeth
- Dressler Dirk
- Duché Charlotte
- Duffell Allison
- Dugauquier Florence
- Duits Annelien
- Dujardin Kathy
- Dumas Eve M.
- Dunnett Stephen
- Dunnett Stephen B.
- Duport Sophie
- Dupuis Michel
- Durif Franck
- Durr Alexandra
- Dziadkiewicz Artur
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- Vacca Melisa
- Valadas Anabela
- Valentine Ruth
- van de Wyngaerde Françoise
- van den Bogaard Simon J. A.
- van Hout Monique S. E.
- van Kuijk Sander MJ.
- van Oostrom Joost
- Van Paemel Dominique
- van Reijen Dimphna
- van Vugt Jeroen P. P.
- van Walsem Marleen
- van Walsem Marleen R.
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- Vandenberghe Wim
- Vangsted-Hansen Christina
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- Wallden Tina
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- Weekes Rebecca
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- Westman Laila
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- Weydt Patrick
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- Wiklund Leif
- Wikström Birgitta
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- Wild Sue
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- Winkelmann Juliane
- Winkler Jürgen
- Winnberg Elisabeth
- Witjes-Ané Marie-Noelle
- Witjes-Ané Marie-Noëlle
- Witkowski Grzegorz
- Witkowski Grzegorz
- Wiśniewski Bartłomiej
- Wolz Annett
- Wolz Martin
- Wood Josh
- Wood Sue
- Wright Abigail
- Wright Abigail
- Wright Jan
- Wójcik Magdalena
- Yardumian Pam
- Yates Shona
- Youssov Katia
- Yudina Elizaveta
- Yudina Elizaveta
- Zalyalova Zuleykha
- Zaremba
- Zaremba Jacek
- Zaugg Sabine Weber
- Zdzienicka Elzbieta
- Zea Sevilla Maria Ascension
- Ziegler Cornelia
- Zielonka Daniel
- Zielonka Daniel
- Zielonka Eugeniusz
- Zimmermann Marie-Agathe
- Zinzi Paola
- Zinzi Paola
- Zinzi Paola
- Ziora-Jakutowicz Karolina
- Zittel Simone
- Zouitina Yassine
- Zucker Birgit
- Åman Jaana
- Østern Rune
- Šašinková Pavla
- Šenkárová Zuzana
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2018
- Field of study
Background: The frequency of late-onset Huntington's disease (>59 years) is assumed to be low and the clinical course milder. However, previous literature on late-onset disease is scarce and inconclusive. Objective: Our aim is to study clinical characteristics of late-onset compared to common-onset HD patients in a large cohort of HD patients from the Registry database. Methods: Participants with late- and common-onset (30–50 years)were compared for first clinical symptoms, disease progression, CAG repeat size and family history. Participants with a missing CAG repeat size, a repeat size of ≤35 or a UHDRS motor score of ≤5 were excluded. Results: Of 6007 eligible participants, 687 had late-onset (11.4%) and 3216 (53.5%) common-onset HD. Late-onset (n = 577) had significantly more gait and balance problems as first symptom compared to common-onset (n = 2408) (P <.001). Overall motor and cognitive performance (P <.001) were worse, however only disease motor progression was slower (coefficient, −0.58; SE 0.16; P <.001) compared to the common-onset group. Repeat size was significantly lower in the late-onset (n = 40.8; SD 1.6) compared to common-onset (n = 44.4; SD 2.8) (P <.001). Fewer late-onset patients (n = 451) had a positive family history compared to common-onset (n = 2940) (P <.001). Conclusions: Late-onset patients present more frequently with gait and balance problems as first symptom, and disease progression is not milder compared to common-onset HD patients apart from motor progression. The family history is likely to be negative, which might make diagnosing HD more difficult in this population. However, the balance and gait problems might be helpful in diagnosing HD in elderly patients
Mapping the human genetic architecture of COVID-19
- Author
- Abdelrazik M
- Abdullah T
- Abe R
- Abe S
- Abecasis GR
- Abel L
- Abernathy C
- Abraheem A
- Abul-Husn NS
- Acosta-Herrera M
- Acquilini D
- Acquilini D
- Adachi T
- Adachi Y
- Adams C
- Adams K
- Adanini O
- Adeleye O
- Adeniji K
- Adra D
- Afifi N
- Afilalo J
- Afilalo M
- Afolabi D
- Afrasiabi Z
- Afset JE
- Agasou A
- Aghemo A
- Agranoff D
- Agrawal S
- Aguirre LA
- Agwuh K
- Ahmad HF
- Ahmad N
- Ahmed A
- Ahmed C
- Ahmed KA
- Ai M
- Ail D
- Akeroyd L
- Akhtar MN
- Akhtar S
- Akinkugbe O
- Aksentijevich A
- Al Thani A
- Al-Muftah W
- Al-Sarraj Y
- Alarcon C
- Alarcon-Riquelme ME
- Alasdair F
- Alaverdian D
- Alavere H
- Albertos R
- Albillos A
- Albrecht W
- Albrich W
- Albrich WC
- Aldera EL
- Aldridge J
- Alegria A
- Alex B
- Alexander P
- Alfonso J
- Algera AG
- Ali A
- Ali IMA
- Ali S
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- Cossarizza A
- Costantino G
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- Coton Z
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- de Gordoa LO-R
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- De Grandi A
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- De la Horra C
- De Neef M
- de Pablo R
- de Rojas I
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- zu Bentrup FM
- Zucchi P
- Zwinderman AHK
- Zyndorf M
- Publication venue
- Publication date
- 01/01/2021
- Field of study
The genetic make-up of an individual contributes to the susceptibility and response to viral infection. Although environmental, clinical and social factors have a role in the chance of exposure to SARS-CoV-2 and the severity of COVID-191,2, host genetics may also be important. Identifying host-specific genetic factors may reveal biological mechanisms of therapeutic relevance and clarify causal relationships of modifiable environmental risk factors for SARS-CoV-2 infection and outcomes. We formed a global network of researchers to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity. Here we describe the results of three genome-wide association meta-analyses that consist of up to 49,562 patients with COVID-19 from 46 studies across 19 countries. We report 13 genome-wide significant loci that are associated with SARS-CoV-2 infection or severe manifestations of COVID-19. Several of these loci correspond to previously documented associations to lung or autoimmune and inflammatory diseases3,4,5,6,7. They also represent potentially actionable mechanisms in response to infection. Mendelian randomization analyses support a causal role for smoking and body-mass index for severe COVID-19 although not for type II diabetes. The identification of novel host genetic factors associated with COVID-19 was made possible by the community of human genetics researchers coming together to prioritize the sharing of data, results, resources and analytical frameworks. This working model of international collaboration underscores what is possible for future genetic discoveries in emerging pandemics, or indeed for any complex human disease