9 research outputs found
A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis
- Author
- Calpena E. (Eduardo)
- Carpenter E.L. (Evan L.)
- Esfandiari E. (Elahe)
- Filtz T.M. (Theresa M.)
- Goos J.A.C. (Jacqueline)
- Iwaniec U.T. (Urszula T.)
- Koelling N. (Nils)
- Leid M. (Mark)
- Mathijssen I.M.J. (Irene M.J.)
- Millard C.J. (Christopher J.)
- Mlcochova H. (Hana)
- Schwabe J.W.R. (John W.R.)
- Selman W.H. (Wisam H.)
- Spek P.J. (Peter) van der
- Swagemakers S.M.A. (Sigrid)
- Twigg S.R.F. (Stephen)
- Vogel W.K. (Walter K.)
- Publication venue
- 'Oxford University Press (OUP)'
- Publication date
- 01/08/2019
- Field of study
Craniosynostosis, the premature ossification of cranial sutures, is a developmental disorder of the skull vault, occurring in approximately 1 in 2250 births. The causes are heterogeneous, with a monogenic basis identified in ~25% of patients. Using whole-genome sequencing, we identified a novel, de novo variant in BCL11B, c.7C>A, encoding an R3S substitution (p.R3S), in a male patient with coronal suture synostosis. BCL11B is a transcription factor that interacts directly with the nucleosome remodelling and deacetylation complex (NuRD) and polycomb-related complex 2 (PRC2) through the invariant proteins RBBP4 and RBBP7. The p.R3S substitution occurs within a conserved amino-terminal motif (RRKQxxP) of BCL11B and reduces interaction with both transcriptional complexes. Equilibrium binding studies and molecular dynamics simulations show that the p.R3S substitution disrupts ionic coordination between BCL11B and the RBBP4-MTA1 complex, a subassembly of the NuRD complex, and increases the conformational flexibility of Arg-4, Lys-5 and Gln-6 of BCL11B. These alterations collectively reduce the affinity of BCL11B p.R3S for the RBBP4-MTA1 complex by nearly an order of magnitude. We generated a mouse model of the BCL11B p.R3S substitution using a CRISPR-Cas9-based approach, and we report herein that these mice exhibit craniosynostosis of the coronal suture, as well as other cranial sutures. This finding provides strong evidence that the BCL11B p.R3S substitution is causally associated with craniosynostosis and confirms an important role for BCL11B in the maintenance of cranial suture patency
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
- Author
- Bala K. (Krithi)
- Balasubramanian M. (Meena)
- Boyadjiev S.A. (Simeon A.)
- Calpena E. (Eduardo)
- Cuellar A. (Araceli)
- Cunningham M.L. (Michael L.)
- Douzgou S. (Sofia)
- Johnson D. (David)
- Koelling N. (Nils)
- Lattanzi W. (Wanda)
- Lester K.J. (Kathryn)
- Lord H. (Helen)
- Mathijssen I.M.J. (Irene M. J.)
- McGowan S.J. (Simon)
- Morton J. (Jenny)
- Phipps J.M. (Julie)
- Shears D.J. (Deborah)
- Swagemakers S.M.A. (Sigrid)
- Twigg S.R.F. (Stephen)
- Wall S.A. (Steven A.)
- Weber A. (Astrid)
- Wilkie A.O.M. (Andrew)
- Wilson L.C. (Louise)
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 05/06/2020
- Field of study
Purpose: Enrichment of heterozygous missense and truncating SMAD6 variants was previously reported in nonsyndromic sagittal and metopic synostosis, and interaction of SMAD6 variants with a common polymorphism near BMP2 (rs1884302) was proposed to contribute to inconsistent penetrance. We determined the occurrence of SMAD6 variants in all types of craniosynostosis, evaluated the impact of different missense variants on SMAD6 function, and tested independently whether rs1884302 genotype significantl
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues
- 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
- Aksentijevich Alexandra
- Al Harthi Fawz
- Al Mutairi Amal
- 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 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.
- Andrews Shea J.
- Andrews Shea J.
- Anedda Federico
- Anemoli Valentina
- Anne Feng Yen-Chen
- Annis Aubrey
- Antinori Andrea
- Antoni Melania Degli
- Aprile von Hohenstaufen Kathrin
- Arabi Yaseen M.
- Armstrong Jacob
- Arning Nicolas
- Arranz Maria J.
- Arribas Elisa
- Arthur Timothy D.
- Artuso Rosangela
- Arumugam Prabhu
- Ascolillo Steven
- Atkinson Elizabeth G.
- Aucella Filippo
- Auld Daniel
- Azarzar Samira
- Åsvold Bjørn Olav
- Bachetti Tiziana
- Balaconis Mary K.
- Baldassarri Margherita
- Ball Catherine A.
- Baltzell Asher Haug
- Band Gavin
- Bandini Maria
- Baraka Dona
- Baras Aris
- Baratti Stefano
- Barbieri Chiara
- 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
- Bibert Stéphanie
- Biscarini Filippo
- Blay Natalia
- Bochud Pierre-Yves
- Boillat Noémie
- Bottà Giordano
- Bouab Meriem
- Boughton Andrew P.
- Bradford Yuki
- Branka Vulesevic Nardin Rezk
- Brassard Nathalie
- 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
- Butler-Laporte Guillaume
- Butterworth Adam S.
- Buxbaum Joseph D.
- Cal-Sabater Paloma de la
- 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
- Carey Dave J.
- Carreras Anna
- Carriero Miriam Lucia
- Castaño-Vinyals Gemma
- Castelli Francesco
- Castori Marco
- Catena Emanuele
- Caulfield Mark J.
- Cárcel-Márquez Jara
- Ceri Stefano
- Chamnanphon Monpat
- Chan Georgia
- Chang Xiao
- Chang Xiao
- Chariyavilaskul Pajaree
- Charney Alexander W.
- Chasman Daniel I.
- Chassé Michaël
- Chaudhary Kumardeep
- Chavan Sameer
- Chen Hung-Hsin
- Cheng Nathan
- Chetruengchai Wanna
- Chittoor Geetha
- Cho Judy H.
- Cho Kelly
- Choi Sam
- Churchhouse Claire
- Chwialkowska Karolina
- Claassen Sabine
- Claringbould Annique
- Coignet Marie
- Coiro Gabriella
- Collins Brett L.
- Colobrán Roger
- Colombo Riccardo
- Conticini Edoardo
- Cordioli Mattia
- Cordioli Mattia
- Cordioli Mattia
- Cordioli Mattia
- Cordioli Mattia
- Cordioli Mattia
- Cordioli Mattia
- Cordioli Mattia
- Corridi Marta
- Cortés Beatriz
- Cossarizza Andrea
- Coto Eliecer
- Coviello Domenico A.
- CRiPSI null
- Croci Leonardo
- Croci Susanna
- Crook Derrick W.
- Crooks Kristy
- Crotti Lia
- Cullell Natalia
- Cusick Caroline
- Daga Sergio
- Dalmau David
- Daly Mark
- Danesh John
- Darcis Gilles
- Daya Michelle
- de Cid Rafael
- de Felipe Mimbrera Alicia
- de geus Eco (E. J. C. )
- De Vivo Oreste
- DeDiego Marta L.
- Deelen Patrick
- Dei Simona
- Della Monica Matteo
- Desanctis Elena
- Di Angelantonio Emanuele
- Di Biagio Antonio
- Di Domenico Paolo
- Di Pietro Massimo
- Di Sarno Laura
- Dietl Beatriz
- Do Ron
- Dobaño Carlota
- Doddato Gabriella
- Domingo Carlos
- Domínguez-Mayoral Anna
- Donati Alice
- Donner Kati
- Durand Madeleine
- D’Alessandro Miriana
- D’Antonio Matteo
- D’Antonio-Chronowska Agnieszka
- D’Arminio Monforte Antonella
- D’Mellow Kenton
- Earle Sarah G.
- Eid Mohammed A.
- El-Jawhari Jehan J.
- El-Lawaty Walaa M.
- El-shanshory Mohamed R.
- El-Sherbiny Yasser M.
- Elhadidy Tamer A.
- Elnagdy Marwa H.
- Eltoukhy Madonna M.
- Emiliozzi Arianna
- Emma Duncan
- Erard Véronique
- Esko Tõnu
- Fabbiani Massimiliano
- Falcone Marco
- Fallerini Chiara
- Farré Xavier
- Fava Francesca
- Fawns-Ritchie Chloe
- Fawns-Ritchie Chloe
- Fawzy Mohammad S.
- Felemban Walaa A.
- Feri Marco
- Fernandez-Cadenas Israel
- Ferreira Manuel A. R.
- Ferri Claudio
- FHoGID null
- Finer Sarah
- FinnGen null
- Finucane Hilary
- Fiorentino Giuseppe
- Fiz-López Aida
- Forgetta Vincenzo
- Forgetta Vincenzo
- Fowler Tom
- Francesco Bianchi Antonio Perrella
- Franchi Federico
- Francisci Daniela
- Franco Giulianini
- Frazer Kelly A.
- Frediani Bruno
- Free Robert C.
- Frippiat Frederic
- Frithiof Robert
- Frullanti Elisa
- Furini Simone
- Gabbi Chiara
- Gabrieli Arianna
- Gaddis Michael
- Galván-Femenía Iván
- Ganna Andrea
- Ganna Andrea
- Garcia-Aymerich Judith
- García-Clemente Marta
- García-Madrona Sebastian
- Gass Matthew C.
- Gatti Francesca
- Gaziano J. Michael
- Genes &
- 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
- González-Villa Esther
- Gori Marco
- Grassi Davide
- Green Robert C.
- Griffiths Christopher J.
- Grip Jonathan
- Guarnaccia Alessandra
- Guerrini Susanna
- Guidelli Luca
- Guindo-Martinez Marta
- Guiot Julien
- Guntz Julien
- Gupta Rahul
- Guturu Harendra
- Guyatt Anna L.
- Guzman Charlotte
- Hakonarson Hakon
- Hakonarson Hakon
- Halawani Roaa T.
- Harerimana Nadia
- Harris Jennifer R.
- Hasanato Rana
- Hayward Caroline
- Hayward Caroline
- Health Research Team null
- Hegazy Mohamed A. F.
- Helgeland Øyvind
- Henry Danielle
- Hensen Kati
- Hiester Liam L.
- Hirankarn Nattiya
- Ho Yuk-Lam
- Hoggart Clive
- Hollox Edward J.
- Hong Eurie L.
- Horowitz Julie E.
- Hosseini Abdolmajid
- Hottenga Jouke Jan
- Huang Qin Qin
- Huckins Laura M.
- Huffman Jennifer E.
- Hultström Michael
- Hunt Karen A.
- Huynen Pascale
- Hveem Kristian
- Iglesias Lara Lloret
- Ikram M. Arfan
- Iolascon Achille
- Itan Yuval
- Jacques Jessica
- Jantarabenjakul Watsamon
- Jiménez-Xarrié Elena
- John Catherine
- Jordan Daniel M.
- Josyula Navya Shilpa
- Jung Junghyun
- Justice Anne E.
- Kallaste Anne
- Kamdar Dhryata
- Kanai Masahiro
- Kanai Masahiro
- Kanai Masahiro
- Karczewski Konrad J.
- Karjalainen Juha
- Karlson Elizabeth W.
- Karp Avromie
- Kaufmann Daniel E.
- Kaunisto Mari
- Keller Katherine
- Kenny Eimear E.
- Kerr Shona M.
- Khafaga Walid T.
- Khattab Amin K.
- Kimchi Nofar
- King Daniel
- Kisand Kai
- Kivinen Katja
- Knight Spencer
- Koelling Nils
- Kogevinas Manolis
- Koskelainen Sami
- Kosmicki Jack A.
- Kousathanas Athanasios
- Kristiansson Kati
- La Rovere Maria Teresa
- Laane Edward
- Labkowsky Alexander
- Laisk Triin
- Lambermont Bernard
- Lanting Pauline
- Lathrop G. Mark
- Lauren Petty E.
- Laurent Laetitia
- Läll Kristi
- Leader Joseph B.
- Lee Paul H.
- Lee Yunsung
- LeFaive Jonathon
- Lena Fabio
- Lepage Pierre
- Lepamets Maarja
- Levy Tess
- Léonard Philippe
- Li Binglan
- Li Kevin W.
- Li Rui
- Liao Rachel G.
- Lin Shang-Kuan
- Lipcsey Miklos
- Lista Mirjam
- Llucià-Carol Laia
- Lo Rizzo Caterina
- Loos Ruth J. F.
- Lopera Esteban
- Lorubbio Maria
- Lozano Francisco
- Lu Wenhan
- Lucas Anastasia
- Luchi Sauro
- Ludovisi Serena
- Maggiolo Franco
- Magnus Per
- Mahmoud Ebrahim S.
- Malaise Olivier
- Mamlouk Noor
- Mancarella Sandro
- Mandalà Marco
- Mangino Massimo
- Mangul Serghei
- Manson JoAnn E.
- Mantovani Stefania
- Marcantonio Simona
- Marciano Carmen
- Mari Francesca
- Maricic Tomislav
- Marike Boezen Lude Franke
- Martin Alicia R.
- Martin Hilary C.
- Martinelli Enrico
- Martí-Fàbregas Joan
- Martín-Nalda Andrea
- Martínez Alba Parra
- Masjuan Jaime
- Mason Dan
- Massadeh Salam
- Masucci Luca
- Matsui Hiroko
- Mazzei Maria Antonietta
- Márquez Leonardo
- Mägi Reedik
- 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
- Milani Lili
- Miraglia Federica Gaia
- Mirshahi Tooraj
- Misset Benoit
- Moahmed Hanteera S.
- Mohamed Attia A. S.
- Mohseni Moghaddam Seyed Behrooz
- Mondelli Mario Umberto
- Montagnani Francesca
- Mooser Vincent
- Moreno Victor
- Morris Marcela
- Morrison David R.
- Moutschen Michel
- Moutsianas Loukas
- Muiño Elena
- Murphy Shawn N.
- Mussini Cristina
- Naaber Paul
- Naderpour Zeinab
- Nadkarni Girish N.
- Nakanishi Tomoko
- Nakanishi Tomoko
- Neale Benjamin M.
- Nencioni Cesira
- Neofytos Dionysios
- Nguyen Huy
- Nguyen Jennifer P.
- Niavarani Ahmadreza
- Niblo Kristi
- Niemi Mari E. K.
- Niemi Mari E. K.
- Niemi Mari E. K.
- Niemi Mari E. K.
- Niemi Mari E. K.
- Nilaratanakul Voraphoj
- Nivard Michel (M. G. )
- Nkambul Lindo
- Nkambul Lindokuhle
- Nkambul Lindokuhle
- Nkambule Lindokuhle
- Nkambule Lindokuhle
- North Kari
- Noto Keith
- Nussle Semira Gonseth
- Odhams Christopher A.
- Ognibene Agostino
- Okasha Kamal
- Oliveira Maureen
- Ori Anil P. S.
- O’Connell Anne Marie
- O’Donnell Christopher J.
- O’Reilly Paul
- P-PredictUs null
- Paciosi Francesco
- Paciosi Francesco
- Packer Richard J.
- Palmer Duncan S.
- Palmieri Maria
- Palotie Aarno
- Pancrazzi Alessandro
- Panese Sandro
- Parati Gianfranco
- Parisi Saverio Giuseppe
- Park Danny
- Parravicini Pierpaolo
- Partha Raghavendran
- Pasko Dorota
- Pathak Gita A.
- Pathak Gita A.
- Pavlovic Milos
- Peloso Gina
- Perez Emma F.
- Perez-Tur Jordi
- Perna Rita
- Perola Markus
- Peruggia Michael
- Pessina Gloria
- Pesukova Jaana
- Peterson Pärt
- Petitjean Louis
- Petrocelli Paola
- Phokaew Chureerat
- Piacentini Paolo
- Picchiotti Nicola
- Pigazzini Sara
- Pigazzini Sara
- Pigazzini Sara
- Pigazzini Sara
- Pinoli Pietro
- Pinto Anna Maria
- Pirinen Matti
- Piscopo Carmelo
- Planas Anna M.
- Polikowski Hannah
- Polimanti Renato
- Polymeropoulos Christos
- Polymeropoulos Mihael H.
- Polymeropoulos Vasilios
- Pongpanich Monnat
- Porteous David J.
- Porteous David J.
- Poscente Monica
- Preuss Michael
- Przychodzen Bartlomiej P.
- Putchareon Opass
- Puthanakit Thanyawee
- Puusepp Mairo
- Quinodoz Mathieu
- Quiros-Roldan Eugenia
- Rader Daniel
- Rafaels Nicholas
- Raggi Pamela
- Ragoussis Jiannis
- Rahmouni Souad
- Raimondi Francesco
- Rancan Ilaria
- Rand Kristin
- Ravaglia Sabrina
- RegCOVID null
- Reimann Ene
- Rendon Augusto
- Renieri Alessandra
- Rhead Brooke
- Rhodes Daniel
- Richards J. Brent
- Richards J. Brent
- Richmond Anne
- Richmond Anne
- Rico Veronica
- Ridker Paul M.
- Ringmets Inge
- Ripamonti Diego
- Ripatti Samuli
- Ritchie Marylyn D.
- Riva Agostino
- Rivolta Carlo
- Rizzi Marco
- Roberts Genevieve
- Robles Veronica
- Rogne Tormod
- Rojo Silvia
- Romani Davide
- Rooyackers Olav
- Rossetti Barbara
- Rudkin Justine K.
- Ruiz Luong
- Ruiz-Jaén Francisca
- Ruotsalainen Sanni
- Rusconi Stefano
- Russo Roberta
- Sabrina Ravaglia
- Saeedi Morteza
- Safieh Leen Abu
- Salerni Lorenzo
- Salib Irene
- Samir Amr
- Sanarico Maurizio
- Sanguinetti Maurizio
- Sarma Gopal
- Sarzi-Braga Simona
- Satterstrom F. Kyle
- Sauvage Anne-Sophie
- Sawaji Mona
- Scaggiante Renzo
- Scala Raffaele
- Schadt Eric E.
- Schiaroli Elisabetta
- Schurr Erwin
- Scolletta Sabino
- Scott Richard H.
- Scotton Pier Giorgio
- Sealfon Stuart C.
- Sebastian Zöllner Brooke Wolford
- Sebra Robert P.
- Seed Cotton
- Segala Francesco Vladimiro
- Segura Tomás
- SeroCOVID null
- Serra-Llovich Alex
- Serrano-Heras Gemma
- Sesso Howard D.
- Shahin Doaa
- Sharififard Bahareh
- Shaw Douglas M.
- Shortt Jonathan
- Shotelersuk Vorasuk
- Shrine Nick
- Siano Matteo
- Sloofman Laura G.
- Smieszek Sandra P.
- Smith Albert V.
- Smoller Jordan W.
- Sobh Ali
- Sodsai Pimpayao
- Soler Pere
- Solligard Erik
- Solomonson Matthew
- Solomonson Matthew
- Soranzo Nicole
- Soriano Alex
- Spargi Genni
- Spector Tim D.
- Spencer Chris C. A.
- Spertilli Chiara
- Squeo Gabriella Maria
- Starkopf Joel
- Stella Alessandra
- Stevens Christine
- Stevens Christine
- Stuckey Alex
- Suardi Claudia
- Suchartlikitwong Pintip
- Suh Noémie
- Suliman Bandar A.
- Sumoy Lauro
- Sun Yan V.
- Suttichet Thitima B.
- Tabri Jekaterina
- Tacconi Danilo
- Tadi Hengameh Ansari
- Tamm Anu
- Tanfoni Marco
- Tang Lara
- Tardif Nicolas
- Tavecchia Luisa
- Tenesa Albert
- Thompson Ryan C.
- Thys Marie
- Timmers Paul R. H. J.
- Tiseo Giusy
- Tita Rossella
- Tobin Martin D.
- Tommasi Andrea
- Torky Mohamed S.
- Torrents David
- Torvorapanit Pattama
- Trankiem Amy
- Trembath Richard C.
- Trivedi Bhavi
- Trogstad Lill-Iren S.
- Trotta Tullio
- Tsao Phil
- Tselios Chris
- Tsuo Kristin
- Tumbarello Mario
- Turley Patrick
- Uitterlinden Andre G.
- Underwood Slayton J.
- Vaghi Massimo
- Valente Serafina
- Valentino Floriana
- van Blokland Irene
- van Heel David A.
- Vecchia Marco
- Veerapen Kumar
- Venn Laura D.
- Venturelli Sophie
- Vergori Alessandra
- Verma Anurag
- Verma Shefali S.
- Verzuri Agnese
- Villalonga Joan Montaner
- Vincenti Antonella
- Voide Cathy
- Von Frenckell Christian
- Vonk Judith. M.
- Wain Louise V.
- Walker Susan
- Walters Raymond K.
- Wang Jiongming
- Wang Xueyang
- Wanying Zhu
- Warmerdam Robert
- Weiss Scott T.
- Wicks Stephen J.
- Willer Cristen
- Williams Alexander T.
- Wilson Daniel J.
- Wilson James F.
- Wolford Brooke
- Wolford Brooke
- Woolley Ann E.
- Wright John
- Wyllie David H.
- Xue Xiaoqing
- Yadav Ashish
- Yassen Amr M.
- Zanella Isabella
- Zeberg Hugo
- Zguro Kristina
- Zhang Miao
- Zhao Jing Hua
- Zhou Wei
- Zhou Wei
- Zlatopolsky Menachem
- Zucchi Patrizia
- Zyndorf Marissa
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2021
- Field of study
Variability 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
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.
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- Publication venue
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- Publication date
- 01/01/2022
- Field of study
peer reviewe
Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation (Genetics in Medicine, (2020), 10.1038/s41436-020-0817-2)
- Author
- Bala K. (Krithi)
- Balasubramanian M. (Meena)
- Boardman-Pretty F. (Freya)
- Boyadjiev S.A. (Simeon A.)
- Calpena E. (Eduardo)
- Cuellar A. (Araceli)
- Cunningham M.L. (Michael L.)
- Douzgou S. (Sofia)
- Johnson D. (David)
- Koelling N. (Nils)
- Lattanzi W. (Wanda)
- Lester K.J. (Kathryn)
- Lord H. (Helen)
- Mathijssen I.M.J. (Irene M. J.)
- McGowan S.J. (Simon)
- Morton J. (Jenny)
- Phipps J.M. (Julie)
- Shears D.J. (Deborah)
- Swagemakers S.M.A. (Sigrid)
- Twigg S.R.F. (Stephen)
- Wall S.A. (Steven)
- Weber A. (Astrid)
- Wilkie A.O.M. (Andrew)
- Wilson L.C. (Louise)
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 07/07/2020
- Field of study
The version of the Article previously published did not acknowledge Freya Boardman-Pretty17,18 and the Genomics England Research Consortium in the author list. This has now been corrected in both the PDF and HTML versions of the Article
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
- Author
- 100 000 Genomes Project Pilot Investigators
- Abulhoul Lara
- Arno Gavin
- Ashford Sofie
- Aurora Paul
- Babcock Melanie
- Bale Mark
- Banka Siddharth
- Baple Emma
- Barnes Michael R
- Beales Phil
- Bentley David
- Bitner-Glindzicz Maria
- Black Graeme
- Bleda Marta
- Bockenhauer Detlef
- Boustred Christopher
- Bradley John R
- Brennan Paul
- Brittain Helen
- Broomfield Alexander
- Browning Andrew C
- Buchanan James
- Bueser Teofila
- Burn John
- Burns Gavin
- Burrows Nigel
- Cacheiro Pilar
- Campbell Carolyn
- Camps Carme
- Caulfield Mark
- Chan Georgia
- Chinnery Patrick F
- Chisholm John
- Chitty Lyn
- Cipriani Valentina
- Clayton-Smith Jill
- Cleary Maureen A
- Compeyrot-Lacassagne Sandrine
- Compton Cecilia
- Crichton Charles
- Dattani Mehul
- Daugherty Louise C
- Davies Jim
- Davison Val
- de Burca Anna
- Deshpande Charu
- Devereau Andrew
- Dewhurst Eleanor
- Douglas Angela
- Douzgou Sofia
- Ellard Sian
- Ellingford Jamie M
- Elliott Perry
- Fassihi Hiva
- Flinter Frances
- Floto R Andres
- Footitt Emma
- Foulger Rebecca E
- Fowler Tom
- Fuller Gavin
- Ganesan Vijeya
- Gibson Kate
- Gorman Gráinne S
- Grocock Russell J
- Grunewald Stephanie
- Gräf Stefan
- Gurnell Mark
- Habib Bishoy
- Haendel Melissa
- Halai Dina
- Hall Georgina
- Halsall Sally
- Haque Eshika
- Haraldsdottir Eik
- Haworth Andrea
- Hill Sue
- Horvath Rita
- Houlden Henry
- Humphray Sean J
- Hunter Sarah
- Hyder Zerin
- Ibanez Kristina
- Irving Melita
- Izatt Louise
- Jacobsen Julius O
- James Roger
- Josifova Dragana
- Kasanicki Mary
- Kasperaviciute Dalia
- Koelling Nils
- Lam Tanya
- Leigh Sarah
- Leong Ivone US
- Lester Tracy
- Li Emily
- Malka Sam
- Mapeta Rutendo
- Martin Antonio
- Matchan Angela
- McDonagh Ellen M
- McFarland Robert
- McMullan Dom
- Mehta Sarju G
- Michaelides Michel
- Mohammed Shehla
- Moore Anthony T
- Morris Huw R
- Moutsianas Loukas
- Mumford Andrew D
- Muntoni Francesco
- Naresh Kikkeri
- Need Anna
- Newland Katrina
- Newman William
- Niblock Olivia
- Németh Andrea H
- O'Connor Emer
- O'Keefe Raymond T
- Ouwehand Willem H
- Palles Claire
- Patch Christine
- Patel Smita
- Penkett Christopher
- Pilkington Clarissa
- Polke James
- Polychronopoulos Dimitris
- Pontikos Nikolas
- Poole Kenneth
- Quinlivan Rosaline
- Quinton Richard
- Rahman Shamima
- Ratnaike Thiloka
- Raymond F Lucy
- Reese Martin G
- Rehmström Karola
- Rendon Augusto
- Robert Leema
- Robinson Peter N
- Rose Sarah
- Roy Noemi BA
- Ruddy Deborah
- Ryten Mina
- Sarkany Robert
- Savage Helen
- Say Genevieve
- Sayer John A
- Schaefer Andrew M
- Scott Richard H
- Seaby Eleanor G
- Sen Arjune
- Shaw Adam C
- Simpson Michael A
- Smedley Damian
- Smith Katherine R
- Snow Catherine
- Spasic-Boskovic Olivera
- Stirrups Kathleen
- Straub Volker
- Sultana Razvan
- Tavares Ana LT
- Taylor Jenny C
- Taylor John
- Taylor Robert W
- Temple I Karen
- Thapar Nikhil
- Thomas Ellen A
- Thomas Huw B
- Tregidgo Carolyn
- Tucci Arianna
- Turnbull Clare
- Turnbull Doug M
- Twiss Philip
- Vandrovcova Jana
- Vestito Letizia
- Wagner Annette
- Wallis Colin
- Webster Andrew R
- Wedderburn Lucy R
- Wei Wei
- Welch James
- Welland Matthew
- Wielscher Matthias
- Wilkie Andrew OM
- Williams Eleanor
- Williams Hywel J
- Wilson Gill
- Wolejko Agata
- Wood Nicholas W
- Wood Suzanne
- Woods Kerrie
- Wordsworth Sarah
- Worth Austen
- Wright Caroline F
- Yip Janice
- Yu-Wai-Man Patrick
- Publication venue
- 'Massachusetts Medical Society'
- Publication date
- 11/11/2021
- Field of study
BACKGROUND: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.K. National Health Service. Other parts of this project focus on patients with cancer and infection.
METHODS: We conducted a pilot study involving 4660 participants from 2183 families, among whom 161 disorders covering a broad spectrum of rare diseases were present. We collected data on clinical features with the use of Human Phenotype Ontology terms, undertook genome sequencing, applied automated variant prioritization on the basis of applied virtual gene panels and phenotypes, and identified novel pathogenic variants through research analysis.
RESULTS: Diagnostic yields varied among family structures and were highest in family trios (both parents and a proband) and families with larger pedigrees. Diagnostic yields were much higher for disorders likely to have a monogenic cause (35%) than for disorders likely to have a complex cause (11%). Diagnostic yields for intellectual disability, hearing disorders, and vision disorders ranged from 40 to 55%. We made genetic diagnoses in 25% of the probands. A total of 14% of the diagnoses were made by means of the combination of research and automated approaches, which was critical for cases in which we found etiologic noncoding, structural, and mitochondrial genome variants and coding variants poorly covered by exome sequencing. Cohortwide burden testing across 57,000 genomes enabled the discovery of three new disease genes and 19 new associations. Of the genetic diagnoses that we made, 25% had immediate ramifications for clinical decision making for the patients or their relatives.
CONCLUSIONS: Our pilot study of genome sequencing in a national health care system showed an increase in diagnostic yield across a range of rare diseases. (Funded by the National Institute for Health Research and others.)
Whole-genome sequencing of patients with rare diseases in a national health system
- Author
- Abbs Stephen
- Abulhoul Lara
- Adlard Julian
- Ahmed Munaza
- Aitman Timothy J.
- Aitman Timothy J.
- Alachkar Hana
- Allen Hana Lango
- Allen Hana Lango
- Allsup David J.
- Almeida-King Jeff
- Ancliff Philip
- Antrobus Richard
- Armstrong Ruth
- Arno Gavin
- Ashford Sofie
- Ashford Sofie
- Astle William J.
- Astle William J.
- Attwood Anthony
- Aurora Paul
- Babbs Christian
- Bacchelli Chiara
- Bakchoul Tamam
- Banka Siddharth
- Bariana Tadbir
- Barwell Julian
- Batista Joana
- Baxendale Helen E.
- Beales Phil L.
- Bennett David L.
- Bennett David L.
- Bentley David R.
- Bentley David R.
- Bierzynska Agnieszka
- Biss Tina
- Bitner-Glindzicz Maria A.K.
- Black Graeme C.
- Bleda Marta
- Blesneac Iulia
- Bockenhauer Detlef
- Bogaard Harm
- Bourne Christian J.
- Boyce Sara
- Bradley John R.
- Bradley John R.
- Bragin Eugene
- Breen Gerome
- Brennan Paul
- Brewer Carole
- Brod Naomi Clements
- Brown Matthew
- Browning Andrew C.
- Browning Michael J.
- Buchan Rachel J.
- Buckland Matthew S.
- Bueser Teofila
- Burn John
- Burns Siobhan O.
- Burren Oliver S.
- Burren Oliver S.
- Burrows Nigel
- Calleja Paul
- Calleja Paul
- Campbell Carolyn
- Carr-White Gerald
- Carss Keren
- Carss Keren
- Casey Ruth
- Castello Ignacio Medina
- Caulfield Mark J.
- Caulfield Mark J.
- Chambers Jenny
- Chambers John
- Chan Melanie M.Y.
- Cheah Calvin
- Cheng Floria
- Chinnery Patrick F.
- Chinnery Patrick F.
- Chitre Manali
- Christian Martin T.
- Church Colin
- Clayton-Smith Jill
- Cleary Maureen
- Coghlan Gerry
- Colby Elizabeth
- Cole Trevor R.P.
- Collins Janine
- Collins Peter W.
- Colombo Camilla
- Compton Cecilia J.
- Condliffe Robin
- Cook H. Terence
- Cook Stuart
- Cooper Nichola
- Corris Paul A A.
- Cunningham Fiona
- Curry Nicola S.
- Cutler Antony J.
- Daniels Matthew J.
- Dattani Mehul
- Daugherty Louise C.
- Davis John
- De Soyza Anthony
- Deevi Sri V.V.
- Deevi Sri V.V.
- Dent Timothy
- Deshpande Charu
- Dewhurst Eleanor F.
- Dixon Peter H.
- Dixon Peter H.
- Diz Carmen Bugarin
- Douzgou Sofia
- Downes Kate
- Downes Kate
- Drazyk Anna M.
- Drewe Elizabeth
- Duarte Daniel
- Dutt Tina
- Edgar J. David M.
- Edwards Karen
- Egner William
- Ekani Melanie N.
- Elliott Perry
- Erber Wendy N.
- Erwood Marie
- Estiu Maria C.
- Evans Dafydd Gareth
- Evans Gillian
- Everington Tamara
- Eyries Mélanie
- Fassihi Hiva
- Favier Remi
- Findhammer Jack
- Fletcher Debra
- Flinter Frances A.
- Floto R. Andres
- Fowler Tom
- Fox James
- Frary Amy J.
- French Courtney E.
- Freson Kathleen
- Freson Kathleen
- Frontini Mattia
- Frontini Mattia
- Furnell Abigail
- Gale Daniel P.
- Gale Daniel P.
- Gall Henning
- Ganesan Vijeya
- Gattens Michael
- Geet Chris Van
- Geoghegan Claire
- Gerighty Terence S.A.
- Gharavi Ali G.
- Ghio Stefano
- Ghofrani Hossein Ardeschir
- Gibbs J. Simon R.
- Gibson Kate
- Gilmour Kimberly C.
- Girerd Barbara
- Gleadall Nicholas S.
- Goddard Sarah
- Goldstein David B.
- Gomez Keith
- Gordins Pavels
- Gosal David
- Graham Jodie
- Grassi Luigi
- Greene Daniel
- Greene Daniel
- Greenhalgh Lynn
- Greinacher Andreas
- Gresele Paolo
- Griffiths Philip
- Grigoriadou Sofia
- Grocock Russell J.
- Grozeva Detelina
- Gräf Stefan
- Gräf Stefan
- Gurnell Mark
- Hackett Scott
- Hadinnapola Charaka
- Hague Rosie
- Hague William M.
- Haimel Matthias
- Haimel Matthias
- Hall Matthew
- Hanson Helen L.
- Haque Eshika
- Harkness Kirsty
- Harper Andrew R.
- Harris Claire L L.
- Hart Daniel
- Hassan Ahamad
- Hayman Grant
- Henderson Alex
- Herwadkar Archana
- Hoffman Jonathan
- Holden Simon
- Horvath Rita
- Houlden Henry
- Houweling Arjan C C.
- Howard Luke S.
- Hu Fengyuan
- Hudson Gavin
- Hughes Joseph
- Huissoon Aarnoud P.
- Humbert Marc
- Humphray Sean
- Humphray Sean
- Hunter Sarah
- Hurles Matthew
- Irving Melita
- Izatt Louise
- James Roger
- James Roger
- Johnson Sally A.
- Jolles Stephen
- Jolley Jennifer
- Josifova Dragana
- Jurkute Neringa
- Karten Johannes
- Karten Tim
- Kasanicki Mary A.
- Kazkaz Hanadi
- Kazmi Rashid
- Kelleher Peter
- Kelly Anne M.
- Kelsall Wilf
- Kempster Carly
- Kiely David G.
- Kingston Nathalie
- Kingston Nathalie
- Klima Robert
- Koelling Nils
- Kostadima Myrto
- Kovacs Gabor
- Koziell Ania
- Koziell Ania
- Kreuzhuber Roman
- Kuijpers Taco W.
- Kumar Ajith
- Kumararatne Dinakantha
- Kurian Manju A.
- Laffan Michael A.
- Laffan Michael A.
- Lalloo Fiona
- Lambert Michele
- Lawrie Allan
- Layton D. Mark
- Lench Nick
- Lentaigne Claire
- Lester Tracy
- Levine Adam P.
- Levine Adam P.
- Linger Rachel
- Longhurst Hilary
- Lorenzo Lorena E.
- Louka Eleni
- Lyons Paul A.
- Machado Rajiv D.
- MacKenzie Ross Robert V.
- Madan Bella
- Maher Eamonn R.
- Maher Eamonn R.
- Maimaris Jesmeen
- Malka Samantha
- Mangles Sarah
- Mapeta Rutendo
- Mapeta Rutendo
- Marchbank Kevin J.
- Marks Stephen
- Markus Hugh S.
- Markus Hugh S.
- Marschall Hanns Ulrich
- Marshall Andrew
- Martin Jennifer
- Mathias Mary
- Matthews Emma
- Maxwell Heather
- McAlinden Paul
- McCarthy Mark I.
- McKinney Harriet
- McMahon Aoife
- Meacham Stuart
- Mead Adam J.
- Megy Karyn
- Megy Karyn
- Mehta Sarju G G.
- Michaelides Michel
- Millar Carolyn
- Mohammed Shehla N.
- Moledina Shahin
- Montani David
- Moore Anthony T.
- Morales Joannella
- Morales Joannella
- Morrell Nicholas W.
- Morrell Nicholas W.
- Mozere Monika
- Muir Keith W.
- Mumford Andrew D.
- Mumford Andrew D.
- Nemeth Andrea H.
- Newman William G.
- Newnham Michael
- Noorani Sadia
- Nurden Paquita
- Obaji Samya
- Odhams Chris
- Okoli Steven
- Olschewski Andrea
- Olschewski Horst
- Ong Kai Ren
- Oram S. Helen
- Ormondroyd Elizabeth
- Ormondroyd Elizabeth
- Ouwehand Willem H.
- Ouwehand Willem H.
- O’Sullivan Jennifer
- Palles Claire
- Papadia Sofia
- Park Soo Mi
- Parry David
- Patel Smita
- Paterson Joan
- Peacock Andrew
- Pearce Simon H H.
- Peden John
- Peerlinck Kathelijne
- Penkett Christopher J.
- Penkett Christopher J.
- Pepke-Zaba Joanna
- Petersen Romina
- Pilkington Clarissa
- Poole Kenneth E.S.
- Prathalingam Radhika
- Psaila Bethan
- Pyle Angela
- Quinton Richard
- Rahman Shamima
- Rankin Stuart
- Rankin Stuart
- Rao Anupama
- Raymond F. Lucy
- Raymond F. Lucy
- Rayner-Matthews Paula J.
- Rees Christine
- Rendon Augusto
- Rendon Augusto
- Renton Tara
- Rhodes Christopher J.
- Rice Andrew S.C.
- Richardson Sylvia
- Richardson Sylvia
- Richter Alex
- Robert Leema
- Roberts Irene
- Roberts Irene
- Rogers Anthony
- Rose Sarah J.
- Ross-Russell Robert
- Roughley Catherine
- Roy Noemi B.A.
- Roy Noemi B. A
- Ruddy Deborah M.
- Sadeghi-Alavijeh Omid
- Saleem Moin A.
- Saleem Moin A.
- Samani Nilesh
- Samarghitean Crina
- Sanchis-Juan Alba
- Sanchis-Juan Alba
- Sargur Ravishankar B.
- Sarkany Robert N.
- Satchell Simon
- Savic Sinisa
- Sayer Genevieve
- Sayer John A.
- Scelsi Laura
- Schaefer Andrew M.
- Schulman Sol
- Scott Richard
- Scully Marie
- Searle Claire
- Seeger Werner
- Sen Arjune
- Sewell W. A.Carrock
- Seyres Denis
- Shah Neil
- Shamardina Olga
- Shamardina Olga
- Shapiro Susan E.
- Shaw Adam C.
- Short Patrick J.
- Sibson Keith
- Side Lucy
- Simeoni Ilenia
- Simpson Michael A A.
- Sims Matthew C.
- Sivapalaratnam Suthesh
- Smedley Damian
- Smith Katherine R.
- Smith Kenneth G.C.
- Smith Kenneth G.C.
- Snape Katie
- Soranzo Nicole
- Soubrier Florent
- Southgate Laura
- Spasic-Boskovic Olivera
- Staines Simon
- Staples Emily
- Stark Hannah
- Stark Hannah
- Stephens Jonathan
- Stephens Jonathan
- Steward Charles
- Stirrups Kathleen E.
- Stirrups Kathleen E.
- Stuckey Alex
- Suntharalingam Jay
- Swietlik Emilia M.
- Syrris Petros
- Tait R. Campbell
- Talks Kate
- Tan Rhea Y.Y.
- Tan Rhea Y.Y.
- Tate Katie
- Taylor Jenny C.
- Taylor John M.
- Thaventhiran James E.
- Themistocleous Andreas C.
- Themistocleous Andreas C.
- Thomas David
- Thomas Ellen
- Thomas Moira J.
- Thomas Patrick
- Thomson Kate
- Thrasher Adrian J.
- Thrasher Adrian J.
- Threadgold Glen
- Thys Chantal
- Thys Chantal
- Tilly Tobias
- Tischkowitz Marc
- Titterton Catherine
- Todd John A.
- Toh Cheng Hock
- Tolhuis Bas
- Tomlinson Ian P.
- Toshner Mark
- Traylor Matthew
- Treacy Carmen
- Treadaway Paul
- Trembath Richard
- Tuna Salih
- Tuna Salih
- Turek Wojciech
- Turro Ernest
- Turro Ernest
- Twiss Philip
- Vale Tom
- Vandekuilen Maarten
- Vandersteen Anthony M.
- Vazquez-Lopez Marta
- von Ziegenweidt Julie
- Vonk Noordegraaf Anton
- Wagner Annette
- Waisfisz Quinten
- Walker Neil
- Walker Neil
- Walker Suellen M.
- Walter Klaudia
- Ware James S.
- Watkins Hugh
- Watkins Hugh
- Watt Christopher
- Webster Andrew R.
- Webster Andrew R.
- Wedderburn Lucy
- Wei Wei
- Welch Steven B.
- Wessels Julie
- Westbury Sarah K.
- Westwood John Paul
- Wharton John
- Whitehorn Deborah
- Whitworth James
- Whitworth James
- Wilkie Andrew O. M
- Wilkins Martin R.
- Wilkins Martin R.
- Williamson Catherine
- Williamson Catherine
- Wilson Brian T.
- Wong Edwin K.S.
- Wood Nicholas
- Wood Yvette
- Woods Christopher Geoffrey
- Woodward Emma R R.
- Wort Stephen J.
- Worth Austen
- Wright Michael
- Yates Katherine
- Yong Patrick F.K.
- Young Timothy
- Yu Ping
- Yu-Wai-Man Patrick
- Zlamalova Eliska
- Zuydam Natalie van
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 02/07/2020
- Field of study
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065 extensively phenotyped participants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data of UK Biobank participants2, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare
COVID-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)
- Alexandra Aksentijevich (13567027)
- Alexandre Belisle (13566310)
- Ali Amirsavadkouhi (13566931)
- Ali Sobh (13566367)
- Alice Donati (6876746)
- Alicia de Felipe Mimbrera (13567321)
- Alicia R Martin (12556807)
- Alireza Adamsara (13566946)
- Altaf Ali (13566445)
- Amal Al Mutairi (13567102)
- Amara Khan (10835145)
- Amin K Khattab (13567138)
- Amr M Yassen (13566409)
- Amr Samir (13566385)
- Amy Trankiem (13566163)
- Anastasia Lucas (3118140)
- Andre G Uitterlinden (8950781)
- Andrea Antinori (103654)
- Andrea Cossarizza (295123)
- Andrea Ganna (419008)
- Andrea Martin-Nalda (8583555)
- Andrea Tommasi (7884968)
- Andres Metspalu (61760)
- Andrew Beck (389972)
- Andrew P Boughton (13566916)
- Anil PS Ori (13566979)
- Ann E Woolley (13566982)
- Anna Canaccini (13566718)
- Anna Carreras (2111431)
- Anna Dominguez-Mayoral (13567327)
- Anna L Guyatt (8810699)
- Anna M Planas (8560464)
- Anna Maria Pinto (10764936)
- Annarita Giliberti (9265079)
- Anne E Justice (9357193)
- Anne Kallaste (13566439)
- Anne Marie O'Connell (13567225)
- Anne Richmond (5854361)
- Anne-Sophie Sauvage (11397734)
- Annique Claringbould (4798920)
- Anoud Albader (13567165)
- Antonella D'Arminio Monforte (13566733)
- Antonella Vincenti (13566796)
- Antonio Di Biagio (316138)
- Antonio Perrella (13566790)
- Anu Tamm (9759596)
- Anurag Verma (669308)
- Archie Campbell (669891)
- Arianna Emiliozzi (9656599)
- Arianna Gabrieli (129726)
- Aris Baras (5542184)
- Asher Haug Baltzell (13566241)
- Ashish Yadav (1585054)
- Athanasios Kousathanas (493642)
- Attia AS Mohamed (13566373)
- Aubrey Annis (13566922)
- Augusto Rendon (147779)
- Avromie Karp (13567033)
- B Barda (11168379)
- B Guery (13566523)
- B Viala (13566559)
- Bader Alghamdi (13231077)
- Bahareh Sharififard (12287944)
- Bandar A Suliman (13567114)
- Barbara Rossetti (2817193)
- Bari Britvan (10879598)
- Bartlomiej P Przychodzen (13567243)
- Beatriz Cortes (13566640)
- Beatriz Dietl (13567285)
- Ben M Brumpton (8453574)
- Benjamin M Neale (3809995)
- Benoit Misset (3496388)
- Bernard Lambermont (685528)
- Bev MacLaughlin (13566898)
- Bhavi Trivedi (13566865)
- Bill Newman (13566904)
- Binglan Li (10702138)
- Biswarup Ghosh (9302363)
- Bjorn Olav Asvold (8616621)
- Bluma Brenner (641164)
- Branka Vulesevic (474225)
- Brett L Collins (13567015)
- Brooke Rhead (5917274)
- Brooke Wolford (10217251)
- Bruno Frediani (7377530)
- C di Bartolomeo (13566634)
- C Guyat-Jacques (13566490)
- C Knapp (13566622)
- C von Mering (13566598)
- Carlo Rivolta (121162)
- Carlos Domingo (10956519)
- Carlota Dobano (13566646)
- Carmelo Piscopo (8976893)
- Carmen Marciano (13566826)
- Carolina Medina-Gomez (152852)
- Caroline Cusick (13566265)
- Caroline Hayward (149856)
- Caterina Lo Rizzo (10764927)
- Cath Lavery (13566889)
- Catherine A Ball (13566217)
- Catherine E Bee (8950487)
- Catherine John (7757003)
- Cathy Voide (10898880)
- Ceri Durham (13566880)
- Cesira Nencioni (13566700)
- Charles J Curtis (13566871)
- Charlotte Guzman (13566298)
- Chiara Barbieri (573298)
- Chiara Batini (3259911)
- Chiara Fallerini (9265073)
- Chiara Gabbi (625063)
- Chiara Spertilli (13566685)
- Chloe Fawns-Ritchie (2624947)
- Chris CA Spencer (13567216)
- Chris Griffiths (119288)
- Chris Tselios (13566304)
- Christelle Meuris (11397737)
- Christian Von Frenckell (13566283)
- Christine Stevens (401796)
- Christopher A Odhams (13567195)
- Christopher J Griffiths (13566913)
- Christopher J O'Donnell (7949609)
- Christopher R Gignoux (13566346)
- Christos Polymeropoulos (13567234)
- Chureerat Phokaew (16229)
- Claire Churchhouse (6204794)
- Claudia Suardi (13566841)
- Claudio Ferri (8615857)
- Clive Hoggart (256669)
- Cotton Seed (7865942)
- CR Kahlert (13566607)
- Cristen Willer (189988)
- Cristina Mussini (237788)
- D Haefliger (13566526)
- Daiana Aguero (13567264)
- Dan Mason (3438803)
- Daniel Auld (7300523)
- Daniel Chasman (198704)
- Daniel E Kaufmann (13566319)
- Daniel J Wilson (3183402)
- Daniel King (1964263)
- Daniel M Jordan (13567039)
- Daniel MacArthur (3577367)
- Daniel Rader (3550616)
- Daniel Rhodes (1467298)
- Daniela Francisci (167519)
- Danielle Henry (13566292)
- Danilo Tacconi (146800)
- Danny Park (9565462)
- Darin Adra (13566307)
- Dave J Carey (13567078)
- David A van Heel (13566856)
- David Bennett (69181)
- David Bernardo (164703)
- David Dalmau (221136)
- David H Wyllie (13567222)
- David J Porteous (7948334)
- David R Morrison (13566286)
- David Torrents (17960)
- David van Heel (187571)
- Davide Grassi (7835198)
- Davide Romani (13566793)
- Deema AlZahrani (13567156)
- Derrick W Crook (9552821)
- Dhryata Kamdar (13566454)
- Diana Alaverdian (11283260)
- Diego Ripamonti (3844000)
- Dionysios Neofytos (759954)
- Doaa Shahin (13566355)
- Domenico A Coviello (13566775)
- Dona Baraka (13567120)
- Donatella Acquilini (13566850)
- Dorota Pasko (3810187)
- Douglas M Shaw (13566325)
- Duncan Emma (13567186)
- Duncan S Palmer (13566187)
- E Tadini (13566550)
- Ebrahim S Mahmoud (13567135)
- Ebtehal Alsolm (13567096)
- Eco EJC de Geus (13567081)
- Edoardo Conticini (9656608)
- Edward J Hollox (7692299)
- Edward Laane (13566427)
- EE Kampouri (13566529)
- Eimear E Kenny (13567051)
- Elena Andreucci (224653)
- Elena Arciero (840544)
- Elena Bargagli (8467728)
- Elena Desanctis (13566709)
- Elena Jimenez-Xarrie (13567318)
- Elena Muino (13567249)
- Eliecer Coto (58914)
- Elisa Arribas (13567300)
- Elisa Benetti (3804865)
- Elisa Frullanti (553477)
- Elisabetta Menatti (13566832)
- Elisabetta Schiaroli (167530)
- Elizabeth G Atkinson (12556642)
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- Raymond Chung (1955386)
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- Riccardo Colombo (94203)
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- Ryan C Thompson (13566994)
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- Sabine Claassen (13566256)
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- Sabrina Ravaglia (6410091)
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- Salam Massadeh (6628496)
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- Sandro Mancarella (9467152)
- Sandro Panese (6444245)
- Sang Hyuck Lee (13566892)
- Sanni Ruotsalainen (13566448)
- Sara Alotaibi (13567108)
- Sara Amitrano (9656605)
- Sara Pigazzini (13566247)
- Sarah Alkwai (13567126)
- Sarah Finer (237152)
- Sarah G Earle (13567204)
- Sauro Luchi (13566805)
- Saverio Giuseppe Parisi (4026326)
- Scott T Weiss (9407556)
- Sebastian Garcia-Madrona (13567324)
- Sebastian Zollner (13566925)
- Semira Gonseth Nussle (13566460)
- Serafina Valente (3753733)
- Serena Ludovisi (13566814)
- Serghei Mangul (4973068)
- Sergio Daga (11283239)
- Seyed Behrooz Mohseni Moghaddam (13566943)
- Shaheen Akhtar (192582)
- Shang-Kuan Lin (13567207)
- Shannon McCurdy (11944312)
- Shapna Hussain (13566886)
- Shawn N Murphy (4802670)
- Shawneequa Callier (13567228)
- Shea J Andrews (13566199)
- Shefa Miah (13566901)
- Shefali S Verma (13567090)
- Shona M Kerr (8950520)
- Silvia Baroni (2156290)
- Silvia Cappelli (13566712)
- Silvia Rojo (13567306)
- Simona Dei (13566808)
- Simona Marcantonio (9656611)
- Simona Sarzi-Braga (13566784)
- Simone Furini (173392)
- Slayton J Underwood (13566208)
- Sophie Venturelli (9326809)
- Souad Rahmouni (320501)
- Spencer Knight (13566223)
- Stefania Mantovani (202342)
- Stefano Baratti (13566817)
- Stefano Busani (735718)
- Stefano Ceri (3614225)
- Stefano Rusconi (237803)
- Stephanie Bibert (316131)
- Stephanie Gofflot (790863)
- Stephen J Wicks (13566349)
- Steven Ascolillo (13566991)
- Stuart C Sealfon (13566205)
- Sulggi Lee (5979596)
- Susan Walker (469919)
- Susanna Croci (11283263)
- Susanna Guerrini (13566682)
- T Brahier (13566565)
- T Egger (13566625)
- T Rochat Negro (13566613)
- Tala Abdullah (10905739)
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- Tess Levy (11503363)
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- Thitima B Suttichet (13566961)
- Tim D Spector (8543481)
- Tiziana Bachetti (361249)
- Tom Fowler (3624713)
- Tomas Segura (13567309)
- Tomislav Maricic (178988)
- Tomoko Nakanishi (344291)
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- Tooraj Mirshahi (547507)
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- Triin Laisk (6103775)
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- V Eric Kerchberger (13566334)
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- Valentina Anemoli (13566724)
- Vasilios Polymeropoulos (13567237)
- Veronica Rico (13567261)
- Veronica Robles (7338719)
- Veronique Erard (13566466)
- Victor Moreno (748751)
- Vijay G Sankaran (13566175)
- Vincent Mooser (47546)
- Vincenzo Forgetta (756326)
- Voraphoj Nilaratanakul (13566964)
- Vorasuk Shotelersuk (581000)
- Walaa A Felemban (13567150)
- Walaa M El-Lawaty (13566397)
- Walid T Khafaga (13566394)
- Wanna Chetruengchai (9659225)
- Wanying Zhu (1567963)
- Watsamon Jantarabenjakul (9504660)
- 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
The 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
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
- Abu Safieh Leen
- Abul-Husn Noura S.
- Acquilini Donatella
- Adams Emma L.
- Adamsara Alireza
- Adeleye Olumide
- Adra Darin
- Afilalo Jonathan
- Afilalo Marc
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- Giorli Alessia
- Giot Jean-Baptiste
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- Goldstein Jacqueline, I
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- Hugli O.
- Hultstrom Michael
- Hunt Karen A.
- Hurles Matt
- Hussain Shapna
- Huynen Pascale
- Hveem Kristian
- Iglesias Lara Lloret
- Ikram M. Arfan
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- La Rovere Maria Teresa
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- Lanting Pauline
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- Lee Paul H.
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- Lena Fabio
- Leonard Philippe
- Lepage Pierre
- Lepamets Maarja
- Lerner Robin
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- Li Binglan
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- Lista Mirjam
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- Lo Rizzo Caterina
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- Lopera Esteban
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- Lu Wenhan
- Lucas Anastasia
- Luchi Sauro
- Ludovisi Serena
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- Mahmoud Ebrahim S.
- Malaise Olivier
- Mamlouk Noor
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- Mantovani Stefania
- Manuel O.
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- Marchetti O.
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- Meuwly J. Y.
- Miah Shefa
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- Polymeropoulos Mihael H.
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- Porteous David J.
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- Poscente Monica
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- Ripamonti Diego
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- Rudkin Justine K.
- Ruiz Luong
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- Rusconi Stefano
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- Sabrina Ravaglia
- Saeedi Morteza
- Safa Nishat
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- Samir Amr
- Sanarico Maurizio
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- Sankaran Vijay G.
- Sarma Gopal
- Sarzi-Braga Simona
- Satterstrom F. Kyle
- Sauvage Anne-Sophie
- Sawaji Mona
- Scaggiante Renzo
- Scala Raffaele
- Schadt Eric E.
- Schiaroli Elisabetta
- Schurr Erwin
- Scolletta Sabino
- Scott Richard H.
- Scotton Pier Giorgio
- Sealfon Stuart C.
- Sebra Robert P.
- Seed Cotton
- Segala Francesco Vladimiro
- Segura Tomas
- Serra-Llovich Alex
- Serrano-Heras Gemma
- Sesso Howard D.
- Shahin Doaa
- Sharififard Bahareh
- Shaw Douglas M.
- Shortt Jonathan
- Shotelersuk Vorasuk
- Shrine Nick
- Siano Matteo
- Sloofman Laura G.
- Smieszek Sandra P.
- Smith Albert, V
- Smoller Jordan W.
- Sobh Ali
- Sodsai Pimpayao
- Soler Pere
- Solligard Erik
- Solomonson Matthew
- Soranzo Nicole
- Soriano Alex
- Spargi Genni
- Spector Tim D.
- Spencer Chris C. A.
- Spertilli Chiara
- Squeo Gabriella Maria
- Starkopf Joel
- Stella Alessandra
- Stevens Christine
- Stuckey Alex
- Suardi Claudia
- Suchartlikitwong Pintip
- Suh N.
- Suh Noemie
- Suliman Bandar A.
- Sumoy Lauro
- Sun Yan, V
- Suttels V
- Suttichet Thitima B.
- Tabri Jekaterina
- Tacconi Danilo
- Tadi Hengameh Ansari
- Tadini E.
- Tahmasebi Farah
- Tamm Anu
- Tanfoni Marco
- Tang Lara
- Tardif Nicolas
- Tavecchia Luisa
- Tenesa Albert
- Thompson Ryan C.
- Thys Marie
- Timmers Paul R. H. J.
- Tiseo Giusy
- Tita Rossella
- Tobin Martin D.
- Tommasi Andrea
- Torky Mohamed S.
- Torrents David
- Torvorapanit Pattama
- Trankiem Amy
- Trembath Richard C.
- Trivedi Bhavi
- Trogstad Lill-Iren S.
- Trotta Tullio
- Tsao Phil
- Tschopp J.
- Tselios Chris
- Tsuo Kristin
- Tumbarello Mario
- Turley Patrick
- Uitterlinden Andre G.
- Underwood Slayton J.
- Vaghi Massimo
- Valente Serafina
- Valentino Floriana
- van Blokland Irene
- van Heel David
- van Heel David A.
- Van Singer M.
- Vecchia Marco
- Veerapen Kumar
- Venn Laura D.
- Venturelli Sophie
- Vergori Alessandra
- Verma Anurag
- Verma Shefali S.
- Verzuri Agnese
- Viala B.
- Villalonga Joan Montaner
- Vincenti Antonella
- Viollet R. Merlet
- Voide Cathy
- Vollenweider P.
- Von Frenckell Christian
- von Hohenstaufen Kathrin Aprile
- von Mering C.
- Vonk Judith M.
- Vulesevic Branka
- Wain Louise, V
- Walker Susan
- Walters Raymond K.
- Wang Jiongming
- Wang Xueyang
- Warmerdam Robert
- Weiss Scott T.
- Wicks Stephen J.
- Willer Cristen
- Williams Alexander T.
- Wilson Daniel J.
- Wilson James F.
- Wolford Brooke
- Woolley Ann E.
- Wozniak H.
- Wright John
- Wyllie David H.
- Xue Xiaoqing
- Yadav Ashish
- Yassen Amr M.
- Younes S. Estoppey
- Zanella Isabella
- Zeberg Hugo
- Zguro Kristina
- Zhang Miao
- Zhao Jing Hua
- Zhou Wei
- Zhu Wanying
- Zlatopolsky Menachem
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- zu Bentrup F. Meyer
- Zucchi Patrizia
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