11 research outputs found
Factors that influence a patient’s decision to engage in genetic research
- Author
- Publication venue
- 'Frontiers Media SA'
- Publication date
- 01/05/2023
- Field of study
Get PDFIntroductionThe most challenging step in clinical research studies is patient recruitment. Many research studies do not reach their targets because of participant rejection. The purpose of this study was to assess patient as well as the community knowledge, motivation, and barriers to participate in genetic research.MethodsA cross-section study was conducted between September 2018 and February 2020 using face-to-face interviews with candidate patients from outpatient clinics at King Fahad Medical City (KFMC), Riyadh, Saudi Arabia. Additionally, an online survey was conducted to assess the community’s knowledge, motivation and barriers to participate in genetic research studies.ResultsIn total, 470 patients were interviewed for this study, with 341 being successfully recruited for the face to face interview, and the other patients being refused owing to time constraints. The majority percentage of the respondents were females. The respondents’ mean age was 30, and 52.6% reported having a college degree. The survey results from 388 participants illustrated that around 90% of the participants, participated voluntarily due to a good understanding of genetics studies. The majority held positive attitudes toward being part of genetic research, which exceeded the reported motivation score of >75%. The survey indicated that >90% of individuals were willing to participate to acquire therapeutic benefits or to receive continued aftercare. However, 54.6% of survey participants were worried about the side effects and the risks involved in genetic testing. A higher proportion (71.4%) of respondents reported that lack of knowledge about genetic research was one of the barriers to rejecting participation.ConclusionRespondents reported relatively high motivation and knowledge for participation in genetic research. However, study participants reported “do not know enough about genetic research” and “lack of time during clinic visit” as a barrier for participation in genetic research
Whole-genome sequencing reveals host factors underlying critical COVID-19
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- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2022
- Field of study
Get PDFCritical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2–4 after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes—including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)—in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues
- Author
- Aarno Palotie
- Abdolmajid Hosseini
- Abdulaziz AlMalik
- Abdulraheem Alshareef
- Achille Iolascon
- Adam S. Butterworth
- Afshar Etemadi Aleagha
- Agnese Verzuri
- Agostino Ognibene
- Agostino Riva
- Ahmadreza Niavarani
- Ahna Girshick
- Aida Fiz-Lopez
- Alba Parra Martınez
- Albandary M. Alowayn
- Albert Tenesa
- Albert V. Smith
- Alessandra Guarnaccia
- Alessandra Renieri
- Alessandra Stella
- Alessandra Vergori
- Alessandro Pancrazzi
- Alessia Giorli
- Alex Serra-Llovich
- Alex Soriano
- Alex Stuckey
- Alexander Labkowsky
- Alexander T. Williams
- Alexander W. Charney
- Alexandra Aksentijevich
- Alexandre Belisle
- Ali Amirsavadkouhi
- Ali Sobh
- Alice Donati
- Alicia de Felipe Mimbrera
- Alicia R. Martin
- Alireza Adamsara
- Altaf Ali
- Amal Al Mutairi
- Amin K. Khattab
- Amr M. Yassen
- Amr Samir
- Amy Trankiem
- Anastasia Lucas
- Andre G. Uitterlinden
- Andrea Antinori
- Andrea Cossarizza
- Andrea Ganna
- Andrea Ganna
- Andrea Martın-Nalda
- Andrea Tommasi
- Andres Metspalu
- Andrew Beck
- Andrew P. Boughton
- Anil P. S. Ori
- Ann E. Woolley
- Anna Canaccini
- Anna Carreras
- Anna Dominguez-Mayoral
- Anna L. Guyatt
- Anna M. Planas
- Anna Maria Pinto
- Annarita Giliberti
- Anne E. Justice
- Anne Kallaste
- Anne Marie O’Connell
- Anne Richmond
- Anne Richmond
- Anne-Sophie Sauvage
- Annique Claringbould
- Anoud Albader
- Antonella D’Arminio Monforte
- Antonella Vincenti
- Antonio Di Biagio
- Antonio Perrella Francesco Bianchi
- Anu Tamm
- Anurag Verma
- Archie Campbell
- Archie Campbell
- Arianna Emiliozzi
- Arianna Gabrieli
- Aris Baras
- Arthur Timothy D
- Asher Haug Baltzell
- Ashish Yadav
- Athanasios Kousathanas
- Attia A. S. Mohamed
- Aubrey Annis
- Augusto Rendon
- Avromie Karp
- Bader Alghamdi
- Bahareh Sharififard
- Bandar A. Suliman
- Barbara Rossetti
- Bari Britvan
- Bartlomiej P. Przychodzen
- Beatriz Cortes
- Beatriz Dietl
- Ben M. Brumpton
- Benjamin M. Neale
- Benoit Misset
- Bernard Lambermont
- Bhavi Trivedi
- Binglan Li
- Biswarup Ghosh
- Bjørn Olav Asvold
- Bluma Brenner
- Brett L. Collins
- Brooke Rhead
- Brooke Wolford
- Brooke Wolford
- Brooke Wolford Sebastian Zo¨ llner
- Bruno Frediani
- Carlo Rivolta
- Carlos Domingo
- Carlota Dobano
- Carmelo Piscopo
- Carmen Marciano
- Carolina Medina-Gomez
- Caroline Cusick
- Caroline Hayward
- Caroline Hayward
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- Chloe Fawns-Ritchie
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- Christian Von Frenckell
- Christine Stevens
- Christine Stevens
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- Christopher J. Griffiths
- Christopher J. O’Donnell
- Christopher R. Gignoux
- Christos Polymeropoulos
- Chureerat Phokaew
- Claire Churchhouse
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- Claudio Ferri
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- Duncan S. Palmer
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- Gloria Pessina
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- Gopal Sarma
- Guillaume Butler-Laporte
- Guillaume ButlerLaporte
- Guillermo M. Albaiceta
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- Hakon Hakonarson
- Hakon Hakonarson
- Hamed Abdollahi
- Hani Al-Afghani
- Hannah Polikowski
- Hanteera S. Moahmed
- Harendra Guturu
- Health Research Team
- Helene Alavere
- Hengameh Ansari Tadi
- Hilary C. Martin
- Hilary Finucane
- Howard D. Sesso
- Hugo Zeberg
- Hung-Hsin Chen
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- Ilaria Rancan
- Iman Almohammed
- Immacolata Andolfo
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- Kelly Cho
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- Yasmine Belhaj
- Yasser M. El-Sherbiny
- Yen-Chen Anne Feng
- Yuk-Lam Ho
- Yuki Bradford
- Yunsung Lee
- Yuval Itan
- Yves Beguin
- Zaman Afrasiabi
- Zeinab Naderpour
- Zhu Wanying
- Ziab Z. Alahmadey
- Øyvind Helgeland
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2022
- Field of study
Get PDFVariability in SARS-CoV-2 susceptibility and COVID-19 disease severity between individuals is partly due to
genetic factors. Here, we identify 4 genomic loci with suggestive associations for SARS-CoV-2 susceptibility
and 19 for COVID-19 disease severity. Four of these 23 loci likely have an ethnicity-specific component.
Genome-wide association study (GWAS) signals in 11 loci colocalize with expression quantitative trait loci
(eQTLs) associated with the expression of 20 genes in 62 tissues/cell types (range: 1:43 tissues/gene),
including lung, brain, heart, muscle, and skin as well as the digestive system and immune system. We perform
genetic fine mapping to compute 99% credible SNP sets, which identify 10 GWAS loci that have eight or fewer
SNPs in the credible set, including three loci with one single likely causal SNP. Our study suggests that the
diverse symptoms and disease severity of COVID-19 observed between individuals is associated with variants across the genome, affecting gene expression levels in a wide variety of tissue types
Whole-genome sequencing reveals host factors underlying critical COVID-19
- Author
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- Zanella I.
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- Zheng C.
- Zhou W.
- Zitter L.
- Zlatopolsky M.
- Zongo O.
- Zucchi P.
- Zyndorf M.
- Zöllner S.
- Åsvold B.O.
- Publication venue
- Springer Science and Business Media LLC
- Publication date
- 07/07/2022
- Field of study
Get PDFCritical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2,3,4 after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes—including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)—in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease
A first update on mapping the human genetic architecture of COVID-19
- Author
- Abd Elghafar Mohamed S.
- Abdel-Aziz Mahmoud
- Abdollahi Hamed
- Abdullah Tala
- Abecasis Goncalo R.
- Abedalthagafi Malak
- Abul-Husn Noura S.
- Acquilini Donatella
- Adams Emma L.
- Adamsara Alireza
- Adeleye Olumide
- Adra Darin
- Afilalo Jonathan
- Afilalo Marc
- Afrasiabi Zaman
- Agüero Daiana
- Ahmadi Saeideh
- Akhtar Shaheen
- Aksentijevich Alexandra
- Al-Afghani Hani
- Al-Awdah Laila
- Alaamery Manal
- Alahmadey Ziab Z.
- Alaverdian Diana
- Alavere Helene
- Albader Anoud
- Albaiceta Guillermo M.
- Albakri Jehad K.
- AlBardis Hadeel
- Albeladi Maha
- Albesher Nour
- Albrich W. C.
- Albrich Werner
- AlDhawi Nouf
- Aleagha Afshar Etemadi
- Alghamdi Bader
- Alghamdi Jahad
- Ali Altaf
- Aliannejad Rasoul
- Aljawini Nora
- AlJohani Sameera
- Alkwai Sarah
- Allos Raili
- AlMalik Abdulaziz
- Almalki Faisal
- Almohammed Iman
- Almutairi Mansour
- Alotaibi Sara
- Alowayn Albandary M.
- Alqahtani Saleh
- Alqubaishi Fatimah
- Alrashed May
- Alshareef Abdulraheem
- Alsolm Ebtehal
- Alswailm Moneera
- AlZahrani Deema
- Amirsavadkouhi Ali
- Amitrano Sara
- Andolfo Immacolata
- Andretta Francesca
- Andreucci Elena
- Andrews Shea J.
- Anedda Federico
- Anemoli Valentina
- Angelantonio Emanuele Di
- Annis Aubrey
- Antinori Andrea
- Antoni Melania Degli
- Anwar Mohammad
- Arabi Yaseen M.
- Arciero Elena
- Armstrong Jacob
- Arning Nicolas
- Arranz Maria J.
- Arribas Elisa
- Artuso Rosangela
- Arumugam Prabhu
- Ascolillo Steven
- Ashraf Samina
- Atkinson Elizabeth G.
- Aucella Filippo
- Auld Daniel
- AZARZAR Samira
- Bachetti Tiziana
- Baillie J. Kenneth
- Balaconis Mary K.
- Baldassarri Margherita
- Ball Catherine A.
- Baltzell Asher Haug
- Band Gavin
- Bandini Maria
- Baraka Dona
- Baras Aris
- Baratti Stefano
- Barbieri Chiara
- Barda B.
- Bargagli Elena
- Barhoush Eman
- Barnes Kathleen C.
- Baroni Silvia
- Bartels Meike
- Bassetti Matteo
- Batini Chiara
- Baya Nikolas
- Beck Andrew
- Beckmann Noam D.
- Bedini Josep L.
- Bee Catherine E.
- Beguin Yves
- Belbin Gillian M.
- Belhaj Yasmine
- Beligni Giada
- Belisle Alexandre
- Belli Mary Ann
- Below Jennifer
- Benetti Elisa
- Bennett David
- Bergantini Laura
- Bergomi Paola
- Berkowitz Nathan
- Bernardo David
- Biagio Antonio Di
- Bianchi Francesco
- Bibert Stéphanie
- Bibert Stéphanie
- Biesecker Les
- Biscarini Filippo
- Blay Natalia
- Bochud M.
- Bochud P. Y.
- Bochud P. Y.
- Bochud Pierre-Yves
- Bochud Pierre-Yves
- Boezen Marike
- Boillat Noémie
- Boillat-Blanco N.
- Bottà Giordano
- Bouab Meriem
- Boughton Andrew P.
- Bouras K.
- Bradford Yuki
- Brahier T.
- Brassard Nathalie
- Breen Gerome
- Brenner Bluma
- Britvan Bari
- Brumpton Ben M.
- Bruno Raffaele
- Bruttini Mirella
- Bryant Sam
- Bryant Sam
- Buring Julie E.
- Busani Stefano
- Bussotti Maurizio
- Butler-Laporte Guillaume
- Butterworth Adam S.
- Buxbaum Joseph D.
- Caldarelli Gian Piero
- Callier Shawneequa
- Cameli Paolo
- Campbell Archie
- Campbell Archie
- Canaccini Anna
- Cantarini Luca
- Cantor Michael N.
- Capasso Mario
- Capitani Katia
- Cappelli Silvia
- Carella Massimo
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- Carreras Anna
- Carriero Miriam Lucia
- Castaño-Vinyals Gemma
- Castelli Francesco
- Castori Marco
- Catena Emanuele
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- Cerny A.
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- Chan Georgia
- Chang Xiao
- Chang Xiao
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- Chasman Daniel I.
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- Chassé Michaël
- Chaudhary Kumardeep
- Chavan Sameer
- Chen Hung-Hsin
- Cheng Nathan
- Chetruengchai Wanna
- Chittoor Geetha
- Cho Judy H.
- Cho Kelly
- Choi Sam
- Chowdhury Maharun
- Chung Raymond
- Churchhouse Claire
- Chwialkowska Karolina
- Claassen Sabine
- Claringbould Annique
- Clerc O.
- Coignet Marie
- Coiro Gabriella
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- Colobrán Roger
- Colombo Riccardo
- Conen A.
- Conticini Edoardo
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- Cortés Beatriz
- Cossarizza Andrea
- Coto Eliecer
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- Croci Leonardo
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- Crooks Kristy
- Crotti Lia
- Cullell Natalia
- Curtis Charles J.
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- Cárcel-Márquez Jara
- Daga Sergio
- Dalmau David
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- Domingo Carlos
- Domínguez-Mayoral Anna
- Donati Alice
- Donner Kati
- Durand Madeleine
- Durham Ceri
- D’Acremont V.
- D’Alessandro Miriana
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- D’Mellow Kenton
- Earle Sarah G.
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- El-shanshory Mohamed R.
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- Eltoukhy Madonna M.
- Emiliozzi Arianna
- Emma Duncan
- Erard Véronique
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- Esko Tõnu
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- Fabbiani Massimiliano
- Falcone Marco
- Fallerini Chiara
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- Fava Francesca
- Fawns-Ritchie Chloe
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- Felemban Walaa A.
- Feng Yen-Chen Anne
- Feri Marco
- Fernandez-Cadenas Israel
- Ferreira Manuel A. R.
- Ferri Claudio
- Filipovic M.
- Filippidis P.
- Finer Sarah
- Finer Sarah
- Finucane Hilary
- Fiorentino Giuseppe
- Fiz-López Aida
- Forgetta Vincenzo
- Foucras S.
- Fowler Tom
- Franchi Federico
- Francisci Daniela
- Franco Giulianini
- Franke Lude
- Frediani Bruno
- Free Robert C.
- Frenckell Christian Von
- Friolet R.
- Frippiat Frédéric
- Frischknecht M.
- Frithiof Robert
- Frullanti Elisa
- Furini Simone
- Gabbi Chiara
- Gabrieli Arianna
- Gaddis Michael
- Galván-Femenía Iván
- Ganna Andrea
- Garcia-Aymerich Judith
- García-Clemente Marta
- García-Madrona Sebastian
- Gass Matthew C.
- Gatti Francesca
- Gaziano J. Michael
- Georges Michel
- Gettler Kyle
- Ghosh Biswarup
- Giannattasio Ferdinando
- Gignoux Christopher R.
- Giliberti Annarita
- Giorli Alessia
- Giot Jean-Baptiste
- Girardis Massimo
- Girshick Ahna
- Glessner Joseph R.
- Glessner Joseph T.
- Gofflot Stéphanie
- Goldstein Jacqueline I.
- Gomez Juan
- Gonseth Nussle S.
- González-Villa Esther
- Gori Marco
- Grassi Davide
- Green Robert C.
- Griffiths Chris
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- Guarnaccia Alessandra
- Guerrini Susanna
- Guidelli Luca
- Guillet A.
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- Guiot Julien
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- Gupta Rahul
- Guturu Harendra
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- Guzman Charlotte
- Guéry B.
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- Harris Jennifer R.
- Harthi Fawz Al
- Hasanato Rana
- Hayward Caroline
- Hayward Caroline
- Hegazy Mohamed A. F.
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- Ho Yuk-Lam
- Hoggart Clive
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- Hosseini Abdolmajid
- Hottenga Jouke Jan
- Huang Qin Qin
- Huang Qin Qin
- Huckins Laura M.
- Huffman Jennifer E.
- Hultström Michael
- Hunt Karen A.
- Hunt Karen A.
- Hurles Matt
- Hussain Shapna
- Huynen Pascale
- Hveem Kristian
- Hügli O.
- Iglesias Lara Lloret
- Ikram M. Arfan
- Iolascon Achille
- Islam Kamrul
- Itan Yuval
- Jacques Jessica
- Jantarabenjakul Watsamon
- Jaquet M.
- Jiménez-Xarrié Elena
- John Catherine
- Jordan Daniel M.
- Josyula Navya Shilpa
- Jung Junghyun
- Justice Anne E.
- Kahlert C. R.
- Kallaste Anne
- Kamdar Dhryata
- Kamdar Dhryata
- Kampouri E. E.
- Kanai Masahiro
- Kanai Masahiro
- Karczewski Konrad J.
- Karjalainen Juha
- Karlson Elizabeth W.
- Karp Avromie
- Kaufmann Daniel E.
- Kaunisto Mari
- Keller Katherine
- Kenny Eimear E.
- Kerchberger V. Eric
- Kerr Shona M.
- Khafaga Walid T.
- Khan Ahsan
- Khan Amara
- Khattab Amin K.
- Kimchi Nofar
- King Daniel
- Kisand Kai
- Kivinen Katja
- Kleger G-R.
- Knapp C.
- Knight Spencer
- Koelling Nils
- Kogevinas Manolis
- Koskelainen Sami
- Kosmicki Jack A.
- Kousathanas Athanasios
- Kristiansson Kati
- Laane Edward
- Labkowsky Alexander
- Laisk Triin
- Lambermont Bernard
- Lannepoudenx Y.
- Lanting Pauline
- Lathrop G. Mark
- Lauren Petty E.
- Laurent Laetitia
- Lavery Cath
- Leader Joseph B.
- Lee Paul H.
- Lee Sang Hyuck
- Lee Sulggi
- Lee Yunsung
- LeFaive Jonathon
- Lena Fabio
- Lepage Pierre
- Lepamets Maarja
- Lerner Robin
- Levy Tess
- Li Binglan
- Li Kevin W.
- Li Rui
- Liao Rachel G.
- Lin Shang-Kuan
- Lipcsey Miklos
- Lista Mirjam
- Llucià-Carol Laia
- Loos Ruth J. F.
- Lopera Esteban
- Lorubbio Maria
- Lozano Francisco
- Lu Wenhan
- Lucas Anastasia
- Luchi Sauro
- Ludovisi Serena
- Läll Kristi
- Léonard Philippe
- MacArthur Daniel
- MacLaughlin Bev
- Maggiolo Franco
- Magnus Per
- Mahmoud Ebrahim S.
- Malaise Olivier
- Mamlouk Noor
- Mancarella Sandro
- Mandalà Marco
- Mangino Massimo
- Mangul Serghei
- Manson JoAnn E.
- Mantovani Stefania
- Manuel O.
- Marcantonio Simona
- MARCHETTI Oreste
- Marciano Carmen
- Mari Francesca
- Maricic Tomislav
- Martin Alicia R.
- Martin Hilary
- Martin Hilary C.
- Martinelli Enrico
- Martí-Fàbregas Joan
- Martín-Nalda Andrea
- Martínez Alba Parra
- Masjuan Jaime
- Mason Dan
- Mason Dan
- Massadeh Salam
- Masucci Luca
- Mazzei Maria Antonietta
- McCormick Joseph B.
- McCurdy Shannon
- Medina-Gomez Carolina
- Meigs James B.
- Meloni Ilaria
- Menatti Elisabetta
- Mencarelli Maria Antonietta
- Menéndez-Valladares Paloma
- Mercader Josep
- Mercader Josep Maria
- Merla Giuseppe
- Metsalu Kristjan
- Metspalu Andres
- Meuris Christelle
- Meuwly J. Y.
- Miah Shefa
- Milani Lili
- Miraglia Federica Gaia
- Mirshahi Tooraj
- Misset Benoît
- Moahmed Hanteera S.
- Moghaddam Seyed Behrooz Mohseni
- Mohamed Attia A. S.
- Mondelli Mario Umberto
- Monica Matteo Della
- Montagnani Francesca
- Montillier P.
- Mooser Vincent
- Moreno Victor
- Morris Marcela
- Morrison David R.
- Moutschen Michel
- Moutsianas Loukas
- Muiño Elena
- Munting A.
- Murphy Shawn N.
- Mussini Cristina
- Mutairi Amal Al
- Márquez Leonardo
- Mägi Reedik
- Naaber Paul
- Naderpour Zeinab
- Nadkarni Girish N.
- Nakanishi Tomoko
- Neale Benjamin M.
- Neale Benjamin M.
- Negro T. Rochat
- Nencioni Cesira
- Neofytos Dionysios
- Neofytos Dionysios
- Newman Bill
- Nguyen Huy
- Niavarani Ahmadreza
- Niblo Kristi
- Niemi Mari E. K.
- Nilaratanakul Voraphoj
- Nivard Michel M. G.
- Nkambul Lindo
- Nkambul Lindokuhle
- Nkambule Lindokuhle
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- North Kari
- Noto Keith
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- Oliveira Maureen
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- Paciosi Francesco
- Packer Richard J.
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- Parati Gianfranco
- Parisi Saverio Giuseppe
- Park Danny
- Parravicini Pierpaolo
- Partha Raghavendran
- Pasko Dorota
- Pathak Gita A.
- Pavlovic Milos
- Peloso Gina
- Perez Emma F.
- Perez-Tur Jordi
- Perna Rita
- Perola Markus
- Perrella Antonio
- Perret A.
- Peruggia Michael
- Pessina Gloria
- Pesukova Jaana
- Peterson Pärt
- Petitjean Louis
- Petrocelli Paola
- Phokaew Chureerat
- Piacentini Paolo
- Picchiotti Nicola
- Pietro Massimo Di
- Pigazzini Sara
- Pinoli Pietro
- Pinto Anna Maria
- Pirinen Matti
- Piscopo Carmelo
- Planas Anna M.
- Polikowski Hannah
- Polimanti Renato
- Polymeropoulos Christos
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- Polymeropoulos Vasilios
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- Puthanakit Thanyawee
- Puusepp Mairo
- Quinodoz Mathieu
- Quinodoz Mathieu
- Quiros-Roldan Eugenia
- Rader Daniel
- Rafaels Nicholas
- Raggi Pamela
- Ragoussis Jiannis
- Rahmouni Souad
- Raimondi Francesco
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- Ravaglia Sabrina
- Regina J.
- Reimann Ene
- Rendon Augusto
- Renieri Alessandra
- Rezk Nardin
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- Ridker Paul M.
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- Ritchie Marylyn D.
- Riva Agostino
- Rivolta Carlo
- Rivolta Carlo
- Rizzi Marco
- Rizzo Caterina Lo
- Roberts Genevieve
- Robles Veronica
- Rochat-Stettler L.
- Rogne Tormod
- Rojo Silvia
- Romani Davide
- Rooyackers Olav
- Rossetti Barbara
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- Rudkin Justine K.
- Ruiz Luong
- Ruiz-Jaén Francisca
- Ruotsalainen Sanni
- Rusconi Stefano
- Russo Roberta
- Sabrina Ravaglia
- Saeedi Morteza
- Safa Nishat
- Safieh Leen Abu
- Salerni Lorenzo
- Salib Irene
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- zu Bentrup F. Meyer
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- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2022
- Field of study
Get PDFpeer reviewe
Biomarker-Determined Nonylphenol Exposure and Associated Risks in Children of Thailand, Indonesia, and Saudi Arabia
- Author
- Publication venue
- 'American Chemical Society (ACS)'
- Publication date
- 01/07/2022
- Field of study
No full textNonylphenol (NP) is an endocrine disruptor and environmental contaminant. Yet, data on individual body burdens and potential health risks in humans, especially among children, are scarce. We analyzed two specific urinary NP metabolites, hydroxy-NP (OH-NP) and oxo-NP. In contrast to parent NP, OH-NP has a much higher urinary excretion fraction (Fue), and both are insusceptible to external contamination. We investigated spot urine samples from school children of Thailand (n = 104), Indonesia (n = 89), and Saudi Arabia (n = 108) and could quantify OH-NP in 100% of Indonesian and Saudi children (median concentrations: 8.12 and 8.57 mu g/L) and in 76% of Thai children (1.07 mu g/L). Median oxo-NP concentrations were 0.95, 1.10, and < 0.25 mu g/L, respectively, in line with its lower Fue. Median daily NP intakes (DIs), back-calculated from urinary OH-NP concentrations, were significantly higher in Indonesia and Saudi Arabia [0.47 and 0.36 mu g/(kg bw & BULL;d), respectively] than in Thailand [0.06 mu g/(kg bw & BULL;d)]. Maximum DIs were close to the preliminary tolerable DI of 5 mu g/(kg bw & BULL;d) from the Danish Environmental Protection Agency. Dominant sources of exposure or relevant exposure pathways could not be readily identified by questionnaire analyses and also potentially varied by region. The novel biomarkers provide long-needed support to the quantitative exposure and risk assessment of NP.N
Fusing Peptide Epitopes for Advanced Multiplex Serological Testing for SARS-CoV‑2 Antibody Detection
- Author
- Abdulelah A. Alrashoudi
- Alexander U. Valle-Pérez
- Ali H. Aldoukhi
- Charlotte A. E. Hauser
- Dana M. Alhattab
- Emiliano Backhoff-García
- Hattan Boshah
- Hepi H. Susapto
- Malak S. Abedalthagafi
- Manal Alaamery
- Manola Moretti
- May Alrashed
- Panayiotis Bilalis
- Raed A. Farzan
- Rana M. Hasanato
- Rosario Pérez-Pedroza
- Roua A. Alsubki
- Salwa Alshehri
- Sarah M. Alsawaf
- Waleed A. Aljabr
- Publication venue
- American Chemical Society
- Publication date
- 01/08/2023
- Field of study
No full textWhole-genome sequencing reveals host factors underlying critical COVID-19
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- Abd Elghafar Mohamed S.
- Abdel-Aziz Mahmoud
- Abdelrazik Marwa
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- Publication venue
- Publication date
- 01/01/2022
- Field of study
No full textAltres ajuts: Department of Health and Social Care (DHSC); Illumina; LifeArc; Medical Research Council (MRC); UKRI; Sepsis Research (the Fiona Elizabeth Agnew Trust); the Intensive Care Society, Wellcome Trust Senior Research Fellowship (223164/Z/21/Z); BBSRC Institute Program Support Grant to the Roslin Institute (BBS/E/D/20002172, BBS/E/D/10002070, BBS/E/D/30002275); UKRI grants (MC_PC_20004, MC_PC_19025, MC_PC_1905, MRNO2995X/1); UK Research and Innovation (MC_PC_20029); the Wellcome PhD training fellowship for clinicians (204979/Z/16/Z); the Edinburgh Clinical Academic Track (ECAT) programme; the National Institute for Health Research, the Wellcome Trust; the MRC; Cancer Research UK; the DHSC; NHS England; the Smilow family; the National Center for Advancing Translational Sciences of the National Institutes of Health (CTSA award number UL1TR001878); the Perelman School of Medicine at the University of Pennsylvania; National Institute on Aging (NIA U01AG009740); the National Institute on Aging (RC2 AG036495, RC4 AG039029); the Common Fund of the Office of the Director of the National Institutes of Health; NCI; NHGRI; NHLBI; NIDA; NIMH; NINDS.Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care or hospitalization after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes-including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)-in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease
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- U. Hommerich
- U. Keller
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- U. Keller
- U. Morgner
- U. Roth
- U. Siegner
- U. Simon
- U. Strossner
- U. Teubner
- U.K. Schreiber
- U.O. Farrukh
- V. Bagnoud
- V. Cautaerts
- V. Chvykov
- V. Couderc
- V. Eckhouse
- V. Espinosa
- V. Evtuhov
- V. Kmetik
- V. Krylov
- V. Lupei
- V. Lupei
- V. Magni
- V. Magni
- V. Magni
- V. Magni
- V. Magni
- V. Magni
- V. Magni
- V. Magni
- V. Pasiskevicius
- V. Petricevic
- V. Petricevic
- V. Petricevic
- V. Petrov
- V. Petrov
- V. Raab
- V. Raab
- V. Ruseva
- V. Shcheslavskiy
- V. Simeonov
- V. Sudesh
- V. Sudesh
- V. Telnov
- V. Valerii
- V. Wilke
- V. Wilke
- V. Wulfmeyer
- V. Yanovsky
- V.A. Gorbunov
- V.A. Kozlov
- V.A. Venturo
- V.D. Nikolaev
- V.E. Kisel
- V.F. Lebedev
- V.F. Losev
- V.G. Kozlov
- V.I. Bezrodnyi
- V.I. Bezrodnyi
- V.I. Karpov
- V.J. Corcoran
- V.L. Kalashnikov
- V.N. Alekseev
- V.N. Belyi
- V.N. Malkin
- V.P. Gerginov
- V.P. Kalosha
- V.S. Arakelyan
- V.S. Letokhov
- V.S. Letokhov
- V.V. Krushas
- V.V. Lozhkarev
- V.V. Termikirtychev
- V.V. Termikirtychev
- V.V. Vassiliev
- V.Z. Tronciu
- W. Buchman
- W. Fuhrmann
- W. Gadomski
- W. Hartig
- W. Imajuku
- W. Kaiser
- W. Koechner
- W. Koechner
- W. Koechner
- W. Koechner
- W. Koechner
- W. Koechner
- W. Koechner
- W. Lama
- W. Nagengast
- W. R. Leeb
- W. Seitz
- W. Seka
- W. Shaomin
- W. Shi
- W. Streifer
- W. Streifer
- W. Theobald
- W. W. Chow
- W. Wiesemann
- W. Zinth
- W.A. Clarkson
- W.A. Clarkson
- W.A. Clarkson
- W.A. Clarkson
- W.A. Clarkson
- W.A. Clarkson
- W.A. Schroeder
- W.A. vanderGraaf
- W.A. vanderGraaf
- W.B. Bridges
- W.B. Chen
- W.B. Tiffany
- W.C. Choi
- W.C. Fricke
- W.C. Scott
- W.D. Fountain
- W.E. Martin
- W.E. Martin
- W.E. Schmid
- W.F. Krupke
- W.F. Krupke
- W.F. Krupke
- W.F. Krupke
- W.F. Krupke
- W.G. Schweitzer Jr
- W.H. Knox
- W.H. Knox
- W.H. Loh
- W.H. Lowdermilk
- W.H. Southwell
- W.J. Alford
- W.J. He
- W.J. Kessler
- W.J. Kozlovsky
- W.J. Ling
- W.J. Wadsworth
- W.J. Wadsworth
- W.J. Wadsworth
- W.K. Kahn
- W.K. Marshall
- W.L. Bosenberg
- W.M. Tulloch
- W.R. Bosenberg
- W.R. Hook
- W.R. Hook
- W.R. Hook
- W.R. Sooy
- W.R. Trutna Jr
- W.R. Trutna Jr
- W.S. Man
- W.S. Pelouch
- W.S. Pelouch
- W.T. Ham Jr
- W.T. Hu
- W.W. Chow
- W.W. Ge
- W.W. Hsiang
- W.W. Krühler
- W.W. Morey
- W.W. Rigrod
- W.W. Rigrod
- W.W. Rigrod
- W.W. Simmons
- W.W. Tang
- W.X. Li
- X. Feng
- X. Gao
- X. J. Wang
- X. Li
- X. Liu
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- X. Liu
- X. Mateos
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- X.A. Rameix
- X.D. Mu
- X.D. Mu
- X.D. Yang
- X.F. Chen
- X.G. Deng
- X.G. Huang
- X.G. Huang
- X.G. Sun
- X.H. Lu
- X.H. Zhang
- X.J. Guo
- X.L. Zhang
- X.M. Tong
- X.S. Bourzeix
- X.S. Zhu
- X.Y. Chen
- X.Y. Dong
- X.Y. Dong
- X.Y. Peng
- X.Y. Zhang
- X.Y. Zhang
- X.Y. Zhang
- X.Y. Zhang
- Y. Asakawa
- Y. Assor
- Y. Barbarin
- Y. Ben
- Y. Beregovski
- Y. Bo
- Y. Dong
- Y. Feng
- Y. Hirano
- Y. Hirano
- Y. Hironaka
- Y. Huang
- Y. Inoue
- Y. Ishida
- Y. Ishida
- Y. Isyanova
- Y. J. Cai
- Y. Jeong
- Y. Jeong
- Y. Jeong
- Y. Jingguo
- Y. Joeng
- Y. Kalisky
- Y. Kalisky
- Y. Kida
- Y. Li
- Y. Liao
- Y. Liao
- Y. Louyer
- Y. Louyer
- Y. Lutz
- Y. Mita
- Y. Morishige
- Y. Nabekawa
- Y. Nabekawa
- Y. Nabekawa
- Y. Nabekawa
- Y. Nabekawa
- Y. Nabekawa
- Y. Nabekawa
- Y. Nabekawa
- Y. Nagumo
- Y. Nishida
- Y. Ojima
- Y. Oki
- Y. Oki
- Y. Oki
- Y. Pang
- Y. Sato
- Y. Shimony
- Y. Shimony
- Y. Shimony
- Y. Sidorin
- Y. Silberberg
- Y. Takenaka
- Y. Takenaka
- Y. Tzuk
- Y. Uchiyama
- Y. Urata
- Y. Urata
- Y. Yang
- Y. Zaouter
- Y.A. He
- Y.C. Zhao
- Y.C. Zhao
- Y.C. Zhao
- Y.E. Romanyuk
- Y.E. Young
- Y.F. Chen
- Y.F. Chen
- Y.F. Chen
- Y.F. Chen
- Y.F. Chen
- Y.F. Chen
- Y.F. Chen
- Y.F. Chen
- Y.F. Chen
- Y.F. Chen
- Y.F. Chen
- Y.F. Chen
- Y.F. Chen
- Y.F. Chen
- Y.F. Qi
- Y.H. Cha
- Y.H. Tsang
- Y.J. Cai
- Y.J. Chen
- Y.J. Cheng
- Y.J. Deng
- Y.J. Dong
- Y.J. Zhang
- Y.K. Kuo
- Y.K. Kuo
- Y.K. Kuo
- Y.K. Park
- Y.L. Li
- Y.L. Li
- Y.L. Li
- Y.L. Sun
- Y.M. Chang
- Y.M. Chen
- Y.M. Liu
- Y.M. Liu
- Y.N. Xu
- Y.P. Huo
- Y.P. Tong
- Y.S. Liu
- Y.V. Volk
- Y.W. Lee
- Y.X. Fan
- Y.X. Zhao
- Y.Y. Lin
- Yu. Nizienko
- Z. Burshtein
- Z. Dai
- Z. Hricha
- Z. Li
- Z. Zeng
- Z. Zhang
- Z.A. Yasa
- Z.G. Zhang
- Z.G. Zhang
- Z.G. Zhang
- Z.H.H. Yang
- Z.L. Liu
- Z.P. Sun
- Z.P. Sun
- Z.T. Chen
- Z.Y. Li
- Z.z. Xu
- Zs. Bor
- Zs. Bor
- {Sect. 6.13.5}
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2007
- Field of study
No full textCOVID-19 Host Genetics Initiative. A first update on mapping the human genetic architecture of COVID-19
- Author
- A Cerny (13566592)
- A Conen (13566478)
- A Guillet (13566487)
- A Munting (13566535)
- A Perret (13566628)
- Aarno Palotie (41342)
- Abdolmajid Hosseini (13566952)
- Abdulaziz AlMalik (5215085)
- Abdulraheem Alshareef (3532520)
- Achille Iolascon (206310)
- Adam S Butterworth (3810055)
- Afshar Etemadi Aleagha (13566937)
- Agnese Verzuri (13566721)
- Agostino Ognibene (5624702)
- Agostino Riva (393458)
- Ahmadreza Niavarani (711998)
- Ahna Girshick (13566238)
- Ahsan Khan (12068159)
- Aida Fiz-Lopez (13567297)
- Alba Parra Martinez (13567294)
- Albandary M Alowayn (13567099)
- Albert Smith (5520185)
- Albert Tenesa (107674)
- Alessandra Guarnaccia (13566751)
- Alessandra Renieri (383439)
- Alessandra Stella (28791)
- Alessandra Vergori (4540474)
- Alessandro Pancrazzi (13566727)
- Alessia Giorli (13566760)
- Alex Serra-Llovich (13567288)
- Alex Soriano (3091062)
- Alex Stuckey (13567192)
- Alexander Labkowsky (13567030)
- Alexander T Williams (8950472)
- Alexander W Charney (13567054)
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- Alexandre Belisle (13566310)
- Ali Amirsavadkouhi (13566931)
- Ali Sobh (13566367)
- Alice Donati (6876746)
- Alicia de Felipe Mimbrera (13567321)
- Alicia R Martin (12556807)
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- Amal Al Mutairi (13567102)
- Amara Khan (10835145)
- Amin K Khattab (13567138)
- Amr M Yassen (13566409)
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- Amy Trankiem (13566163)
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- Elisabetta Schiaroli (167530)
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- Eman Barhoush (79416)
- Emanuele Catena (9333452)
- Emanuele Di Angelantonio (79027)
- Emma F Perez (13566988)
- Emma L Adams (8950484)
- Ene Reimann (667292)
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- Georgia Chan (13567198)
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- Gianfranco Parati (299443)
- Gilles Darcis (777607)
- Gillian M Belbin (13567045)
- Gina Peloso (257020)
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- Girish N Nadkarni (8335719)
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- Giuseppe Merla (124032)
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- H Wozniak (13566610)
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- Hamed Abdollahi (11179078)
- Hani Al-Afghani (13567168)
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- Hengameh Ansari Tadi (13566934)
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- Irene Salib (13567006)
- Irene van Blokland (13566976)
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- Israel Fernandez-Cadenas (6398018)
- Ivan Galvan-Femenia (13566637)
- J Brent Richards (10175105)
- J Chassot (13566499)
- J Kenneth Baillie (3875020)
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- J Regina (13566541)
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- Jahad Alghamdi (13231065)
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- James B Meigs (9357259)
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- Jehad K Albakri (13567147)
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- Jekaterina Tabri (13566433)
- Jennifer Below (3532292)
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- Jessica Jacques (2967813)
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- Wanna Chetruengchai (9659225)
- Wanying Zhu (1567963)
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- WC Albrich (13566586)
- Wei Zhou (24328)
- Wenhan Lu (8908976)
- Werner Albrich (5541584)
- Xavier Farre (10317580)
- Xiao Chang (43560)
- Xiaoqing Xue (6116318)
- Xueyang Wang (6813818)
- Y Lannepoudenx (13566508)
- Yan Sun (22436)
- Yaseen M Arabi (12041017)
- Yasmine Belhaj (13566250)
- Yasser M El-Sherbiny (13566358)
- Yen-Chen Anne Feng (9983636)
- Yuk-Lam Ho (7010873)
- Yuki Bradford (496693)
- Yunsung Lee (10670517)
- Yuval Itan (260527)
- Yves Beguin (264097)
- Zaman Afrasiabi (10905751)
- Zeinab Naderpour (10054118)
- Ziab Z Alahmadey (13567144)
- Publication venue
- Publication date
- 03/08/2022
- Field of study
No full textThe COVID-19 pandemic continues to pose a major public health threat, especially in countries with low vaccination rates. To better understand the biological underpinnings of SARS-CoV-2 infection and COVID-19 severity, we formed the COVID-19 Host Genetics Initiative1. Here we present a genome-wide association study meta-analysis of up to 125,584 cases and over 2.5 million control individuals across 60 studies from 25 countries, adding 11 genome-wide significant loci compared with those previously identified2. Genes at new loci, including SFTPD, MUC5B and ACE2, reveal compelling insights regarding disease susceptibility and severity.</p
