14 research outputs found
Altered translation of GATA1 in Diamond-Blackfan anemia
- Author
- A Bolze
- A Subramanian
- Alan H Beggs
- BL Ebert
- CD Trainor
- CG Gkogkas
- Colin A Sieff
- D Rousseau
- DC Dieterich
- DG Nathan
- DS Peabody
- E Kobayashi
- E Santini
- Eric S Lander
- F Gebauer
- H Moniz
- H Torihara
- Hanna T Gazda
- Harvey F Lodish
- HF Lodish
- HT Gazda
- HT Gazda
- J Cmejlova
- J Flygare
- J Hu
- J Wechsler
- Jason R Gotlib
- Jennifer C Eng
- JJ Welch
- JM Lipton
- JR Babendure
- K Chylicki
- K De Keersmaecker
- L Garçon
- Leif S Ludwig
- M Kozak
- MJ Weiss
- N Kondrashov
- NJ Moerke
- P Jaako
- P Shah
- PM Lansdorp
- Prathapan Thiru
- R Horos
- Roxanne Ghazvinian
- S Dutt
- S Xue
- SH Orkin
- Stephen W Eichhorn
- Tracy I George
- V Matys
- VG Sankaran
- VG Sankaran
- VG Sankaran
- Vijay G Sankaran
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/12/2013
- Field of study
Ribosomal protein haploinsufficiency occurs in diverse human diseases including Diamond-Blackfan anemia (DBA)[superscript 1, 2], congenital asplenia[superscript 3] and T cell leukemia[superscript 4]. Yet, how mutations in genes encoding ubiquitously expressed proteins such as these result in cell-type– and tissue-specific defects remains unknown[superscript 5]. Here, we identify mutations in GATA1, encoding the critical hematopoietic transcription factor GATA-binding protein-1, that reduce levels of full-length GATA1 protein and cause DBA in rare instances. We show that ribosomal protein haploinsufficiency, the more common cause of DBA, can lead to decreased GATA1 mRNA translation, possibly resulting from a higher threshold for initiation of translation of this mRNA in comparison with other mRNAs. In primary hematopoietic cells from patients with mutations in RPS19, encoding ribosomal protein S19, the amplitude of a transcriptional signature of GATA1 target genes was globally and specifically reduced, indicating that the activity, but not the mRNA level, of GATA1 is decreased in patients with DBA associated with mutations affecting ribosomal proteins. Moreover, the defective hematopoiesis observed in patients with DBA associated with ribosomal protein haploinsufficiency could be partially overcome by increasing GATA1 protein levels. Our results provide a paradigm by which selective defects in translation due to mutations affecting ubiquitous ribosomal proteins can result in human disease.National Institutes of Health (U.S.) (Grant P01 HL32262)National Institutes of Health (U.S.) (Grant U54 HG003067-09
Non-Standard Errors
- Author
- Abad-DÃaz David
- Abudy Menachem
- Adrian Tobias
- Ait-Sahalia Yacine
- Akmansoy Olivier
- Alcock Jamie T.
- Alexeev Vitali
- Aloosh Arash
- Amato Livia
- Amaya Diego
- Angel James J.
- Avetikian Alejandro T.
- Bach Amadeus
- Baidoo Edwin
- Bakalli Gaetan
- Bao Li
- Barbon Andrea
- Bashchenko Oksana
- Bindra Parampreet C.
- Bjønnes Geir H.
- Black Bernard S.
- Black Jeffrey R.
- Bogoev Dimitar
- Bohorquez Correa Santiago
- Bondarenko Oleg
- Bos Charles S.
- Bosch-Rosa Ciril
- Bouri Elie
- Brownlees Christian
- Calamia Anna
- Cao Viet Nga
- Capelle-Blancard Gunther
- Capera Romero Laura M.
- Caporin Massimiliano
- Carrion Allen
- Caskurlu Tolga
- Chakrabarty Bidisha
- Chen Jian
- Chernov Mikhail
- Cheung William
- Chincarini Ludwig B.
- Chordia Tarun
- Chow Sheung-Chi
- Clapham Benjamin
- Colliard Jean-Edouard
- Comerton-Forde Carole
- Curran Edward
- Dao Thong
- Dare Wale
- Davies Ryan J.
- De Blasis Riccardo
- De Nard Gianluca F.
- Declerck Fany
- Deev Oleg
- Degryse Hans
- Deku Solomon Y.
- Desagre Christophe
- Dim Chukwuma
- Dimpfl Thomas
- Dong Yun Jiang
- Dreber Anna
- Drummond Philip A.
- Dudda Tom
- Duevski Teodor
- Dumitrescu Ariadna
- Dyakov Teodor
- Dyhrberg Anne Haubo
- Dzielinski Michał
- Eksi Asli
- El Kalak Izidin
- Eugster Nicolas
- Evans Martin D. D.
- Farrell Michael
- Felez-Vinas Ester
- Ferrara Gerardo
- Ferrouhi El Mehdi
- Flori Andrea
- Fluharty Jonathan T.
- Foley Sean D. V.
- Fong Kingsley Y. L.
- Foucault Thierry
- Franus Tatiana
- Franzoni Francesco
- Frijns Bart
- Frömmel Michael
- Fu Servanna M.
- Füllbrunn Sascha C.
- Gan Baoqing
- Gao Ge
- Gehrig Thomas P.
- Gemayel Roland
- Gerritsen Dirk
- Gil-Bazo Javier
- Gilder Dudley
- Glosten Lawrence R.
- Gomez Thomas
- Gorbenko Arseny
- Grammig Joachim
- Grégoire Vincent
- Güçbilmez Ufuk
- Hagströmer Björn
- Hambuckers Julien
- Hapnes Erik
- Harris Jeffrey H.
- Harris Lawrence
- Hartmann Simon
- Hasse Jean-Baptiste
- Hautsch Nikolaus
- He Xue-Zhong (Tony)
- Heath Davidson
- Hediger Simon
- Hendershott Terrence
- Hibbert Ann Marie
- Hjalmarsson Erik
- Hoelscher Seth
- Hoffmann Peter
- Holden Craig W.
- Holzmeister Felix
- Horenstein Alex R.
- Huang Da
- Huang Wenqian
- Huber Juergen
- Hurlin Christophe
- Ilczuk Konrad
- Ivashchenko Alexey
- Iyer Subramanian R.
- Jahanshahloo Hossein
- Jalkh Naji P.
- Johannesson Magnus
- Jones Charles M.
- Jurkatis Simon
- Jylhä Petri
- Kaeck Andreas T.
- Kaiser Gabriel
- Karam Arzé
- Karmaziene Egle
- Kassner Bernhard
- Kaustia Markku
- Kazak Ekaterina
- Kearney Fearghal
- Kervel Vincent van
- Khan Saad A.
- Khomyn Marta K.
- Kirchler Michael
- Klein Olga
- Klein Tony
- Klos Alexander
- Koetter Michael
- Kolokolov Aleksey
- Korajczyk Robert A.
- Kozhan Roman
- Krahnen Jan P.
- Kuhle Paul
- Kwan Amy
- Lajaunie Quentin
- Lam F. Y. Eric C.
- Lambert Marie
- Langlois Hugues
- Lausen Jens
- Lauter Tobias
- Leippold Markus
- Levin Vladimir
- Li Hui
- Li Yijie
- Liew Chee Yoong
- Lindner Thomas
- Linton Oliver
- Liu Anqi
- Liu Jiacheng
- Llorente Guillermo
- Lof Matthijs
- Lohr Ariel
- Longstaff Francis
- Lopez-Lira Alejandro
- Mankad Shawn
- Mano Nicola
- Marchal Alexis
- Martineau Charles
- Mazzola Francesco
- Meloso Debrah
- Menkfeld Albert J.
- Mi Michael G.
- Mihet Roxana
- Mohan Vijay
- Moinas Sophie
- Moore David
- Mu Liangyi
- Muravyev Dmitriy
- Murphy Dermot
- Neszveda Gabor
- Neumeier Christian
- Neusüss Sebastian
- Nielsson Ulf
- Nimalendran Mahendrarajah
- Nolte Sven
- Norden Lars L.
- O'Neill Peter W.
- Obaid Khaled
- Pagnotta Emiliano
- Painter Marcus
- Palan Stefan
- Palit Imon J.
- Park Andreas
- Pascual Roberto
- Pasquariello Paolo
- Pastor Lubos
- Patel Vinay
- Patton Andrew J.
- Pearson Neil D.
- Pelizzon Loriana
- Pelli Michele
- Pelster Matthias
- Pfiffer Cameron
- Philip Richard
- PlÃhal Tomáš
- Prakash Puneet
- Press Oliver-Alexander
- Prodromou Tina
- Prokopczuk Marcel
- Putnins Talis
- Pérignon Christophe
- Qian Ya
- Raizada Gaurav
- Rakowski David
- Ranaldo Angelo
- Razen Michael
- Regis Luca
- Reitz Stefan
- Renault Thomas
- Renjie Rex W.
- Reno Roberto
- Riddiough Steven J.
- Rinne Kalle
- Rintamäki Paul J.
- Riordan Ryan
- Rittmannsberger Thomas
- RodrÃguez Longarela Iñaki
- Roesch Dominik
- Rognone Lavinia
- Roseman Brian
- Rosu Ioanid
- Roy Saurabh
- Rudolf Nicolas
- Rush Stephen R.
- Rzayev Khaladdin
- Rzeznik Aleksandra A.
- Sanford Anthony
- Sankaran Harikumar
- Sarkar Asani
- Sarno Lucio
- Scaillet Olivier
- Scharnowski Stefan
- Schenk-Hoppé Klaus R.
- Schertler Andrea
- Schneider Michael
- Schroeder Florian
- Schuster Philipp
- Schwarz Marco A.
- Schürhoff Norman
- Seasholes Mark S.
- Seeger Norman J.
- Shachar Or
- Shkilko Andriy
- Shui Jessica
- Sikic Mario
- Simion Giorgia
- Smales Lee A.
- Sojli Elvira
- Sokolov Konstantin
- Spokeviciute Laima
- Stefanova Denitsa
- Subrahmanyam Marti G.
- Szaszi Barnabas
- Söderlind Paul
- Sönksen Jantje
- Talavera Oleksandr
- Tang Yuehua
- Taylor Nick
- ter Ellen Saskia
- Tham Wing Wah
- Theissen Erik
- Thimme Julian
- Tonks Ian
- Tran Hai
- Trapin Luca
- Trolle Anders B.
- Vaduva M. Andreea
- Valente Giorgio
- van der Wel Michel
- van Dijk Mathijs A.
- Van Ness Robert A.
- Vasquez Aurelio
- Verousis Thanos
- Verwijmeren Patrick
- Vilhelmsson Anders
- Vilkov Grigory
- Vladimirov Vladimir
- Vogel Sebastian
- Voigt Stefan
- Wagner Wolf
- Walther Thomas
- Weiss Patrick
- Weitzel Utz
- Werner Ingrid M.
- Westerholm Joakim
- Westheide Christian
- Wika Hans C.
- Wipplinger Evert
- Wolf Michael
- Wolff Christian C. P.
- Wolk Leonard
- Wong Wink-Keung
- Wrampelmeyer Jan
- Wu Zhen-Xing
- Xia Shuo
- Xiu Dacheng
- Xu Caihong
- Xu Ke
- Yadav Pradeep K.
- Yagüe José
- Yan Cheng
- Yang Antti
- Yoo Woongsun
- Yu Shihao
- Yu Wenjia
- Yu Yihe
- Yueshen Bart Z.
- Yuferova Darya
- Zamojski Marcin
- Zareei Abalfazl
- Zeisberger Stefan M.
- Zhang Lu
- Zhang S. Sarah
- Zhang Xiaoyu
- Zhao Lu
- Zhong Zhuo
- Zhou Chen
- Zhou Zeyang (Ivy)
- Zhu Xingyu S.
- Zoican Marius
- Zwinkels Remco
- Östberg Per
- Ødegaard Bernt A.
- Publication venue
- Publication date
- 11/02/2023
- Field of study
In statistics, samples are drawn from a population in a data-generating process (DGP). Standard errors measure the uncertainty in estimates of population parameters. In science, evidence is generated to test hypotheses in an evidence-generating process (EGP). We claim that EGP variation across researchers adds uncertainty: Non-standard errors (NSEs). We study NSEs by letting 164 teams test the same hypotheses on the same data. NSEs turn out to be sizable, but smaller for better reproducible or higher rated research. Adding peer-review stages reduces NSEs. We further find that this type of uncertainty is underestimated by participants
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
- Carey Dave J.
- Carreras Anna
- Carriero Miriam Lucia
- Castaño-Vinyals Gemma
- Castelli Francesco
- Castori Marco
- Catena Emanuele
- Caulfield Mark J.
- Ceri Stefano
- Cerny A.
- Chamnanphon Monpat
- Chan Georgia
- Chang Xiao
- Chang Xiao
- Chariyavilaskul Pajaree
- Charney Alexander W.
- Chasman Daniel I.
- Chassot J.
- 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
- Colligan Grainne
- Collins Brett L.
- Colobrán Roger
- Colombo Riccardo
- Conen A.
- Conticini Edoardo
- Cordioli Mattia
- Cordioli Mattia
- Corridi Marta
- Cortés Beatriz
- Cossarizza Andrea
- Coto Eliecer
- Coviello Domenico A.
- Croci Leonardo
- Croci Susanna
- Crook Derrick W.
- Crooks Kristy
- Crotti Lia
- Cullell Natalia
- Curtis Charles J.
- Cusick Caroline
- Cárcel-Márquez Jara
- Daga Sergio
- Dalmau David
- Daly Mark
- Daly Mark J.
- Danesh John
- Darcis Gilles
- Davis Lea
- Daya Michelle
- de Cid Rafael
- de Felipe Mimbrera Alicia
- de geus Eco E. J. C.
- de la Cal-Sabater Paloma
- DeDiego Marta L.
- Deelen Patrick
- Dei Simona
- Deloukas Panos
- Desanctis Elena
- Desgranges F.
- di Bartolomeo C.
- Dietl Beatriz
- Do Ron
- Dobaño Carlota
- Doddato Gabriella
- Domenico Paolo Di
- Domingo Carlos
- DomÃnguez-Mayoral Anna
- Donati Alice
- Donner Kati
- Durand Madeleine
- Durham Ceri
- D’Acremont V.
- D’Alessandro Miriana
- D’Arminio Monforte Antonella
- D’Mellow Kenton
- Earle Sarah G.
- Egger T.
- 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
- Erard Véronique
- Esko Tõnu
- Estoppey Younes S.
- Fabbiani Massimiliano
- Falcone Marco
- Fallerini Chiara
- Farré Xavier
- Fava Francesca
- Fawns-Ritchie Chloe
- Fawns-Ritchie Chloe
- fawzy Mohammad S.
- 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-FemenÃa Iván
- Ganna Andrea
- Garcia-Aymerich Judith
- GarcÃa-Clemente Marta
- GarcÃa-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
- Griffiths Christopher J.
- Grip Jonathan
- Guarnaccia Alessandra
- Guerrini Susanna
- Guidelli Luca
- Guillet A.
- Guindo-Martinez Marta
- Guiot Julien
- Guntz Julien
- Gupta Rahul
- Guturu Harendra
- Guyat-Jacques C.
- Guyatt Anna L.
- Guzman Charlotte
- Guéry B.
- Haefliger D.
- Hakonarson Hakon
- Hakonarson Hakon
- Halawani Roaa T.
- Harerimana Nadia
- Harris Jennifer R.
- Harthi Fawz Al
- Hasanato Rana
- Hayward Caroline
- Hayward Caroline
- 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
- 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
- MartÃ-FÃ bregas Joan
- MartÃn-Nalda Andrea
- MartÃnez 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
- Nkambule Lindokuhle
- North Kari
- Noto Keith
- Nussle Semira Gonseth
- Oddo M.
- Odhams Christopher A.
- Ognibene Agostino
- Okasha Kamal
- Oliveira Maureen
- Ori Anil P. S.
- O’Connell Anne Marie
- O’Donnell Christopher J.
- O’Mahony L.
- O’Reilly Paul
- Paciosi Francesco
- Packer Richard J.
- Pagani J. L.
- Pagani J. L.
- Palmer Duncan S.
- Palmieri Maria
- Palotie Aarno
- Palotie Aarno
- Pancrazzi Alessandro
- Panese Sandro
- Pantet O.
- Papadimitriou-Olivgeris M.
- 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
- Polymeropoulos Mihael H.
- Polymeropoulos Vasilios
- Pongpanich Monnat
- Porteous David J.
- Porteous David J.
- Portopena L.
- Poscente Monica
- Preuss Michael
- Priest James
- Przychodzen Bartlomiej P.
- Pugin J.
- Putchareon Opass
- Puthanakit Thanyawee
- Puusepp Mairo
- Quinodoz Mathieu
- Quinodoz Mathieu
- Quiros-Roldan Eugenia
- Rader Daniel
- Rafaels Nicholas
- Raggi Pamela
- Ragoussis Jiannis
- Rahmouni Souad
- Raimondi Francesco
- Rancan Ilaria
- Rand Kristin
- Ravaglia Sabrina
- Regina J.
- Reimann Ene
- Rendon Augusto
- Renieri Alessandra
- Rezk Nardin
- Rhead Brooke
- Rhodes Daniel
- Richards J. Brent
- Richmond Anne
- Richmond Anne
- Rico Veronica
- Ridker Paul M.
- Rime M.
- Ringmets Inge
- Ripamonti Diego
- Ripatti Samuli
- 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
- Rovere Maria Teresa La
- 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
- Samir Amr
- Sanarico Maurizio
- Sanguinetti Maurizio
- Sankaran Vijay G.
- Sarma Gopal
- Sarno Laura Di
- 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 Tomás
- 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
- Stuckey Alex
- Suardi Claudia
- Suchartlikitwong Pintip
- Suh N.
- Suh Noémie
- 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.
- Trembath Richard C.
- Trivedi Bhavi
- 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 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
- Vivo Oreste De
- Voide Cathy
- Voide Cathy
- Vollenweider P.
- Vollenweider P.
- von Hohenstaufen Kathrin Aprile
- von Mering C.
- Vonk Judith. M.
- Vulesevic Branka
- 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
- Wolford Brooke
- Woolley Ann E.
- Wozniak H.
- Wright John
- 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
- zu Bentrup F. Meyer
- Zucchi Patrizia
- Zyndorf Marissa
- Zöllner Sebastian
- Åsvold Bjørn Olav
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2022
- Field of study
peer reviewe
Transcriptional silencing of γ-globin by BCL11A involves long-range interactions and cooperation with SOX6
- Publication venue
- Cold Spring Harbor Laboratory Press
- Publication date
- 01/02/2010
- Field of study
The developmental switch from human fetal (γ) to adult (β) hemoglobin represents a clinically important example of developmental gene regulation. The transcription factor BCL11A is a central mediator of γ-globin silencing and hemoglobin switching. Here we determine chromatin occupancy of BCL11A at the human β-globin locus and other genomic regions in vivo by high-resolution chromatin immunoprecipitation (ChIP)–chip analysis. BCL11A binds the upstream locus control region (LCR), ɛ-globin, and the intergenic regions between γ-globin and δ-globin genes. A chromosome conformation capture (3C) assay shows that BCL11A reconfigures the β-globin cluster by modulating chromosomal loop formation. We also show that BCL11A and the HMG-box-containing transcription factor SOX6 interact physically and functionally during erythroid maturation. BCL11A and SOX6 co-occupy the human β-globin cluster along with GATA1, and cooperate in silencing γ-globin transcription in adult human erythroid progenitors. These findings collectively demonstrate that transcriptional silencing of γ-globin genes by BCL11A involves long-range interactions and cooperation with SOX6. Our findings provide insight into the mechanism of BCL11A action and new clues for the developmental gene regulatory programs that function at the β-globin locus
Normal hematologic parameters and fetal hemoglobin silencing with heterozygous IKZF1 mutations
- Author
- Ashleigh A. Sun
- Attila Kumánovics
- Basak
- Bottardi
- Bottardi
- Claudia Fiorini
- Dias
- Dijon
- Dulmovits
- Dumortier
- Funnell
- Harry R. Hill
- Jeannette Hansen-Rejali
- Karl V. Voelkerding
- Keys
- Kuehn
- Lopez
- Malinge
- Nandakumar
- Nour Abdulhay
- Rao
- Sankaran
- Sankaran
- Sankaran
- Sankaran
- Sankaran
- Sankaran
- Sankaran
- Sankaran
- Sergio D. Rosenzweig
- Ulirsch
- Vijay G. Sankaran
- Xu
- Yoshida
- Publication venue
- 'American Society of Hematology'
- Publication date
- Field of study
Anemia: progress in molecular mechanisms and therapies
- Author
- A Bedel
- A Lombardo
- A Rovira
- A Sanjuan-Pla
- A Wilber
- AD Campbell
- B Giardine
- C May
- CH Dai
- CJ Schofield
- CL Bennett
- CL Richardson
- CM Witmer
- CQ Wang
- D Manwani
- DB Kohn
- DC Rees
- DE Bauer
- DJ Weatherall
- DR Gutsaeva
- E Khandros
- E Nemeth
- E Ramos
- E Robert-Richard
- F Locatelli
- F Xie
- FS Loffredo
- G Birgegård
- G Galarneau
- G Weiss
- GC Preza
- H Li
- HF Bunn
- IC Macdougall
- IC Macdougall
- IV Libani
- J Borg
- J Chang
- J Chang
- J Flygare
- J Malyszko
- J Palis
- J Sun
- J Xu
- J Xu
- J Zuber
- JB Arlet
- JC Ulirsch
- JE Bradner
- JE Jang
- JJ Field
- JL Spivak
- KE Finberg
- KL Wallace
- KM Musallam
- L Arnaud
- L Breda
- L Katsimpardi
- L Kautz
- L Naldini
- L Shi
- LS Ludwig
- M Cavazzana-Calvo
- M Dussiot
- M Landowski
- M Sinha
- M Suzuki
- Mitchell J Weiss
- MK Safo
- ML Sherman
- MT Gladwin
- MT Gladwin
- N Holt
- N Pishesha
- N Raje
- N Sun
- NC Wrighton
- NJ Kassebaum
- NW Meza
- O Abdulmalik
- OS Platt
- P Genovese
- PD Hsu
- PJ Schmidt
- R Bejar
- R Pawliuk
- R Stadhouders
- R van Wijk
- R Yamamoto
- RF Paulson
- RM Gupta
- RN Suragani
- S Coulon
- S Doulatov
- S Fishbane
- S Gardenghi
- S Guo
- S Hacein-Bey-Abina
- S Perrotta
- S Stein
- SA Villeda
- SH Embury
- SH Orkin
- ST Chou
- T Ganz
- T Tanno
- V Jha
- VG Sankaran
- VG Sankaran
- VG Sankaran
- VG Sankaran
- VG Sankaran
- VG Sankaran
- VG Sankaran
- VG Sankaran
- VG Sankaran
- VG Sankaran
- Vijay G Sankaran
- W Deng
- W Jelkmann
- X An
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Altered translation of GATA1 in Diamond-Blackfan anemia
- Author
- A Bolze
- A Subramanian
- Alan H Beggs
- BL Ebert
- CD Trainor
- CG Gkogkas
- Colin A Sieff
- D Rousseau
- DC Dieterich
- DG Nathan
- DS Peabody
- E Kobayashi
- E Santini
- Eric S Lander
- F Gebauer
- H Moniz
- H Torihara
- Hanna T Gazda
- Harvey F Lodish
- HF Lodish
- HT Gazda
- HT Gazda
- J Cmejlova
- J Flygare
- J Hu
- J Wechsler
- Jason R Gotlib
- Jennifer C Eng
- JJ Welch
- JM Lipton
- JR Babendure
- K Chylicki
- K De Keersmaecker
- L Garçon
- Leif S Ludwig
- M Kozak
- MJ Weiss
- N Kondrashov
- NJ Moerke
- P Jaako
- P Shah
- PM Lansdorp
- Prathapan Thiru
- R Horos
- Roxanne Ghazvinian
- S Dutt
- S Xue
- SH Orkin
- Stephen W Eichhorn
- Tracy I George
- V Matys
- VG Sankaran
- VG Sankaran
- VG Sankaran
- Vijay G Sankaran
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
A first update on mapping the human genetic architecture of COVID-19
- Author
- Almalki Faisal
- Alotaibi Sara
- Alqahtani Saleh
- Andrews Shea J.
- Atkinson Elizabeth G.
- Balaconis Mary K.
- Baya Nikolas
- Bryant Sam
- Cheng Nathan
- Churchhouse Claire
- COVID HGI
- Daly Mark
- Daly Mark J.
- Ferreira Manuel A. R.
- Finucane Hilary
- Ganna Andrea
- Goldstein Jacqueline, I
- Gupta Rahul
- Harris Jennifer R.
- Hoggart Clive
- Kanai Masahiro
- Karczewski Konrad J.
- Karjalainen Juha
- King Daniel
- Li Kevin W.
- Liao Rachel G.
- Lu Wenhan
- Martin Alicia R.
- Neale Benjamin M.
- Nguyen Huy
- Nkambul Lindo
- Palmer Duncan S.
- Pathak Gita A.
- Polimanti Renato
- Ripatti Samuli
- Sankaran Vijay G.
- Sarma Gopal
- Satterstrom F. Kyle
- Sealfon Stuart C.
- Seed Cotton
- Sloofman Laura G.
- Solomonson Matthew
- Stevens Christine
- Sun Yan, V
- Trankiem Amy
- Tsuo Kristin
- Turley Patrick
- Veerapen Kumar
- Walters Raymond K.
- Wilson James F.
- Zhou Wei
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 04/08/2022
- Field of study
Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices
- Author
- Aaltonen L. (Lauri)
- Aaltonen V. (Vesa)
- Abe N. (Namiko)
- Abecasis G. (Goncalo)
- Albert C. (Christine)
- Almasy L. (Laura)
- Alonso A. (Alvaro)
- Ament S. (Seth)
- Anderson P. (Peter)
- Antonacci-Fulton L. (Lucinda)
- Applebaum-Bowden D. (Deborah)
- Aragam K. (Krishna)
- Arden M. (Moscati)
- Arking D. (Dan)
- Arnett D. K. (Donna K.)
- Arvas M. (Mikko)
- Ashley-Koch A. (Allison)
- Aslibekyan S. (Stella)
- Assimes T. L. (Themistocles L.)
- Auer P. (Paul)
- Auge F. (Franck)
- Auranen A. (Annika)
- Auro K. (Kirsi)
- Auvinen P. (Pivi)
- Avramopoulos D. (Dimitrios)
- Awaisa G. (Ghazal)
- Ballantyne C. M. (Christie M.)
- Barnard J. (John)
- Barnes K. (Kathleen)
- Barr R. G. (R. Graham)
- Barron-Casella E. (Emily)
- Beaty T. (Terri)
- Becker D. (Diane)
- Becker J. P. (Julia Powers)
- Becker L. C. (Lewis C.)
- Beer R. (Rebecca)
- Begum F. (Ferdouse)
- Beitelshees A. (Amber)
- Benjamin E. (Emelia)
- Betts J. (Jo)
- Bezerra M. (Marcos)
- Bhangale T. (Tushar)
- Bielak L. (Larry)
- Bielak L. F. (Lawrence F.)
- Bing D. C. (David Close Marla Hochfeld Nan)
- Bisl J. C. (Joshua C.)
- Biswas S. (Shameek)
- Blackwel T. (Thomas)
- Blangercy J. (John)
- Blomster T. (Timo)
- Boerwinkle E. (Eric)
- Boorgula M. P. (Meher Preethi)
- Bowden D. W. (Donald W.)
- Bowers N. (Natalie)
- Bowler R. (Russell)
- Brein G. (Georg)
- Brody J. A. (Jennifer A.)
- Broecke U. (Ulrich)
- Bronson P. (Paola)
- Broome J. G. (Jai G.)
- Bunting K. (Karen)
- Burchard E. (Esteban)
- Buth E. (Erin)
- Cade B. E. (Brian E.)
- Call K. (Kathy)
- Cardwel J. (Jonathan)
- Carty C. (Cara)
- Casaburi R. (Richard)
- Casella J. (James)
- Chaffin M. (Mark)
- Challis B. (Ben)
- Chang C. (Christy)
- Chang D. (Diana)
- Chang Y.-C. (Yi-Cheng)
- Chasman D. (Daniel)
- Chatelain C. (Clement)
- Chavan S. (Sameer)
- Chen B.-J. (Bo-Juen)
- Chen C.-Y. (Chia-Yen)
- Chen H. (Hao)
- Chen H. (Hubert)
- Chen W.-M. (Wei-Min)
- Chen X. (Xing)
- Chen Y. I. (Yii-Der, I)
- Chhibber A. (Aparna)
- Choi S. H. (Seung Hoan)
- Choi W. J. (Won Jung)
- Chol M. (Michael)
- Choy D. (David)
- Chu A. (Audrey)
- Chuang L.-M. (Lee-Ming)
- Chung M. (Mina)
- Connell J. O. (Jeff O.)
- Connell J. R. (Jeffrey R. O.)
- Connor T. O. (Tim O.)
- Conomos M. P. (Matthew P.)
- Cornell E. (Elaine)
- Correa A. (Adolfo)
- Crapo J. (James)
- Crohns M. (Marika)
- Cupples L. A. (L. Adrienne)
- Curran J. E. (Joanne E.)
- Curtis J. (Jeffrey)
- Custer B. (Brian)
- Dada A. (Alexander)
- Daly M. (Mark)
- Daly M. J. (Mark J.)
- Damcott C. (Coleen)
- Darbar D. (Dawood)
- Das S. (Sayantan)
- David S. (Sean)
- Davis C. (Colleen)
- Davis J. W. (Justin Wade)
- Daya M. (Michelle)
- de Andrade M. (Mariza)
- de Vries P. S. (Paul S.)
- DeBaunuo M. (Michael)
- Devine R. D. (Ranjan Deka Dawn DeMeo Scott)
- Diogo D. (Dorothee)
- Do R. (Ron)
- Doddapaneni H. (Harsha)
- Donner K. (Kati)
- Duan Q. (Qing)
- Duggirala Q. R. (Qing Ravi)
- Durda J. P. (Jon Peter)
- Dutcher S. (Susan)
- DutcherE S. K. (Susan K.)
- Eaton C. (Charles)
- Eaton S. (Susan)
- Ehm M. (Meg)
- Eicher J. (John)
- Eklund K. (Kari)
- Ekunwe L. (Lynette)
- Elenius K. (Klaus)
- Ellinor P. T. (Patrick T.)
- Emery L. S. (Leslie S.)
- Esmaeeli S. (Sahar)
- Farber C. (Charles)
- Farnaml L. (Leanna)
- Fingerlin T. (Tasha)
- Flickinger M. (Matthew)
- Fornage M. (Myriam)
- Fox C. (Caroline)
- Franceschini N. (Nora)
- Freedman B. I. (Barry, I)
- Frkkil M. (Martti)
- Fu M. (Mao)
- Fullerton S. M. (Stephanie M.)
- Fulton L. (Lucinda)
- Gabriel S. (Stacey)
- Gan W. (Weiniu)
- Ganna A. (Andrea)
- Gao Y. (Yan)
- Gass M. (Margery)
- Ge B. (Bruce)
- Geng X. P. (Xiaoqi Priscilla)
- Georgantas B. (Bob)
- Germer S. (Soren)
- Germer S. (Soren)
- Ghosh S. (Soumitra)
- Gibbs R. A. (Richard A.)
- Gignoux C. (Chris)
- Gladwin M. (Mark)
- Glahn D. (David)
- Gogarten S. (Stephanie)
- Gong D.-W. (Da-Wei)
- Gordillo J. E. (Jorge Esparza)
- Goring H. (Harald)
- Gormle P. Y. (Padhraig Y.)
- Gossel M. (Matthias)
- Graham S. E. (Sarah E.)
- Greenberg S. (Steven)
- Gu C. C. (C. Charles)
- Guan Y. (Yue)
- Guo X. (Xiuqing)
- Haessler J. (Jeff)
- Hall M. (Michael)
- Hannula-Jouppi K. (Katariina)
- Harju J. (Jarmo)
- Harju T. (Terttu)
- Harris D. (Daniel)
- Harvima I. (Ilkka)
- Hautala N. (Nina)
- Havulinna A. (Aki)
- Hawle N. Y. (Nicola Y.)
- He J. (Jiang)
- Heap G. (Graham)
- Heavner B. (Ben)
- Heckbert S. (Susan)
- Heikkinen S. (Sami)
- Hendolin M. (Minna)
- Hernandez R. (Ryan)
- Herrington D. (David)
- Hersh C. (Craig)
- Hidalgo B. (Bertha)
- Hiekkalinna T. (Tero)
- Hiltunen M. (Mikko)
- Hinttala R. (Reetta)
- Hixson J. (James)
- Hoffman J. (Joshua)
- Hokanson J. (John)
- Holzinger E. (Emily)
- Hong E. (Elliott)
- Honigbere M. C. (Michael C.)
- Hoth K. (Karin)
- Hsiung C. A. (Chao Agnes)
- Hu X. (Xinli)
- Huilaja L. (Laura)
- Hung Y.-J. (Yi-Jen)
- Hunkapiller J. (Julie)
- Huston H. (Haley)
- Hveem K. (Kristian)
- Hwu C. M. (Chii Min)
- Hyvrinen K. (Kati)
- Irvin M. R. (Marguerite R.)
- Isomki P. (Pia)
- Jackson R. (Rebecca)
- Jacob H. (Howard)
- Jain D. (Deepti)
- Jalanko A. (Anu)
- Jaquish C. (Cashell)
- Jarvik G. P. (Gail P.)
- Jhun M. A. (Min A.)
- Jimnez M. G. (Manuel Gonzlez)
- Joensuu H. (Heikki)
- John S. (Sally)
- Johnsen J. (Jill)
- Johnson A. (Andrew)
- Johnson C. (Craig)
- Johnston R. (Rich)
- Jones K. (Kimberly)
- Jrvensivu E. (Elina)
- Julkunen V. (Valtteri)
- Junttila J. (Juhani)
- Juonala M. (Markus)
- Jussila A. (Airi)
- Kaarniranta K. (Kai)
- Kaarteenaho R. (Riitta)
- Kaiharju E. (Essi)
- Kaipiainen-Seppnen O. (Oili)
- Kajanne R. (Risto)
- Kalaoja M. (Marita)
- Kallio L. (Lila)
- Kalpala K. (Kirsi)
- Kang H. M. (Hyun Min)
- Kangasniemi E. (Eeva)
- Kankaanranta H. (Hannu)
- Kaplan R. C. (Robert C.)
- Kaprio J. (Jaakko)
- Kardia S. L. (Sharon L. R.)
- Karihtala P. (Peeter)
- Karjalainen J. (Juha)
- Karjalainen M. (Minna)
- Karlsson A. (Antti)
- Kathiresan S. (Sekar)
- Kaufman L. (Laura)
- Kaunisto M. (Mari)
- Kauppi P. (Paula)
- Kauppila S. (Saila)
- Kell S. Y. (Shannon Y.)
- Kennyn E. (Eimear)
- Kerchner G. (Geoff)
- Kessler M. (Michael)
- Kettunen J. (Johannes)
- Khan A. T. (Alyna T.)
- Khnen M. (Mika)
- Kiiskinen T. (Tuomo)
- Kilpelinen E. (Elina)
- Kilpi T. (Terhi)
- Kim R. W. (Ryan W.)
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- Kiviniemi M. (Mikko)
- Klinger K. (Kathy)
- Klviinen R. (Reetta)
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- Kooperberg C. (Charles)
- Koskinen M. (Miika)
- Kosma V.-M. (Veli-Matti)
- Koulu L. (Leena)
- Kramer H. (Holly)
- Krauter S. (Stephanie)
- Kristiansson K. (Kati)
- Kujala U. (Urho)
- Kulkarni D. (Diptee)
- Kuopio T. (Teijo)
- Kurki M. (Mitja)
- Laakkonen E. (Eija)
- Laakso M. (Markku)
- Laaksonen R. (Reijo)
- Laiho P. (Pivi)
- Laitinen T. (Tarja)
- Laivuori H. (Hannele)
- Landenper S. (Sanni)
- Lange C. (Christoph)
- Lange E. (Ethan)
- Lange L. (Leslie)
- Laukkanen J. (Jari)
- Laukkanen M. (Markku)
- Laurie C. (Cecelia)
- Laurie C. C. (Cathy C.)
- LeBoff M. (Meryl)
- Lee J. (Jiwon)
- Lee S. (Seonwook)
- Lee S. S. (Seunggeun Shawn)
- Lee W.-J. (Wen-Jane)
- LeFaive J. (Jonathon)
- Lehisto A. (Arto)
- Lehtonen A. (Anne)
- Lehtonen H. (Heli)
- Lemaitre R. N. (Rozenn N.)
- Lemmel S. (Susanna)
- Lertratanaku A. (Apinya)
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- Levy D. (Dan)
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- Lhteenmki S. (Sini)
- Li Y. (Yun)
- Lin H. (Honghuang)
- Lin K. H. (Keng Han)
- Lin X. (Xihong)
- Linden K. (Kari)
- Liu J. (Jimmy)
- Liu S. (Simin)
- Liu Y. (Yongmei)
- Llorens V. (Vincent)
- Lloyd-Jones D. M. (Don M.)
- Loboda A. (Andrey)
- Loos R. J. (Ruth J. F.)
- Loukola A. (Anu)
- Lu T. (Tim)
- Lubitz S. A. (Steven A.)
- Lunetta K. (Kathryn)
- Luo J. (James)
- Luodonp M. (Marja)
- Lyhs U. (Ulrike)
- Mahaney M. (Michael)
- Make B. (Barry)
- Malarstig A. (Anders)
- Manichaikul A. (Ani)
- Mannermaa A. (Arto)
- Mansonl J. (JoAnn)
- Mantere T. (Tuomo)
- Maranville J. (Joseph)
- Margolin L. (Lauren)
- Mars N. (Nina)
- Marshall C. (Catherine)
- Martin L. W. (Lisa W.)
- Martinez K. A. (Karine A. Viaud)
- Matakidou A. (Athena)
- Mathai S. (Susan)
- Mathias R. A. (Rasika A.)
- Mattsson H. (Hannele)
- McArdle P. (Patrick)
- McCarthy L. (Linda)
- McCarthy M. (Mark)
- Mcdonald M.-L. (Merry-Lynn)
- McDonough S. (Stefan)
- McFarland S. (Sean)
- McGarvey S. T. (Stephen T.)
- McHugh C. (Caitlin)
- Mehta V. (Vinay)
- Mei H. (Hao)
- Meretoja T. (Tuomo)
- Metcalf G. (Ginger)
- Metsrinne K. (Kaj)
- Meyers D. A. (Deborah A.)
- Michon J. (John)
- Mikulla J. (Julie)
- Miller M. (Melissa)
- Min N. (Nancy)
- Minear M. (Mollie)
- Minster R. L. (Ryan L.)
- Mitche B. D. (Braxton D.)
- Mkel T. (Tomi)
- Mnnikk L. (Lotta)
- Montasser M. E. (May E.)
- Moon J.-Y. (Jee-Young)
- Morrison A. C. (Alanna C.)
- Musani S. (Solomon)
- Muslin A. (Anthony)
- Muzny D. (Donna)
- Mwasongwe S. (Stanford)
- Mychaleckyj J. C. (Josyf C.)
- Nadkarni G. (Girish)
- Naik R. (Rakhi)
- Naseri T. (Take)
- Natarajan P. (Pradeep)
- Nekhai S. (Sergei)
- Nelson S. C. (Sarah C.)
- Nickerson D. (Deborah)
- Nickerson D. A. (Deborah A.)
- Niiranen T. (Teemu)
- North K. E. (Kari E.)
- Nunez-Fontarnau J. (Javier)
- Ochs-Balcom H. (Heather)
- Oh D. (Danny)
- Ollila T. (Terhi)
- Pakkanen R. (Raimo)
- Palin K. (Kimmo)
- Palmer N. D. (Nicholette D.)
- Palomki A. (Antti)
- Paloneva J. (Juha)
- Palotie A. (Aarno)
- Palotie A. (Aarno)
- Palta P. (Priit)
- Pampana A. (Akhil)
- Pankow J. (James)
- Papanicolaou G. (George)
- Park C. J. (Cheol Joo)
- Parkerl M. (Margaret)
- Parkkinen J. (Jaakko)
- Parolo P. D. (Pietro Della Briotta)
- Parsa A. (Afshin)
- Partanen J. (Jukka)
- Pelkonen M. (Margit)
- Peloso G. M. (Gina M.)
- Peltola J. (Jukka)
- Peltonen S. (Sirkku)
- Penchey S. (Sara)
- Peralta J. M. (Juan M.)
- Perez M. (Marco)
- Perola M. (Markus)
- Perry J. A. (James A.)
- Peters U. (Ulrike)
- Peterson A. (Andrew)
- Petrovski S. (Slav)
- Peyser P. A. (Patricia A.)
- Phillips L. S. (Lawrence S.)
- Phillips S. (Sam)
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- Pitkranta A. (Anne)
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- Podgornaia A. (Anna)
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- Popovic R. (Relja)
- Post W. (Wendy)
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- Prn K. (KaIle)
- Prokopenko D. (Dmitry)
- Psat B. M. (Bruce M. Y.)
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- Pylkäs K. (Katri)
- Qasba P. (Pankaj)
- Qiao D. (Dandi)
- Quarless D. (Danjuma)
- Rafaels N. (Nicholas)
- Raffield L. (Laura)
- Rahimov F. (Fedik)
- Rao D. C. (D. C.)
- Rasmussen-Torvik L. (Laura)
- Ratan A. (Aakrosh)
- Redline S. (Susan)
- Reed R. (Robert)
- Reganl E. (Elizabeth)
- Reiner A. P. (Alexander P.)
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- Reupena M. S. (Muagututi Sefuiva)
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- Riley-Gillis B. (Bridget)
- Rinne J. (Juha)
- Ripatti S. (Samuli)
- Ripatti S. (Samuli)
- Ritari J. (Jarmo)
- Rivas M. (Manuel)
- Roden D. (Dan)
- Roselli C. (Carolina)
- Rotten J. I. (Jerome, I)
- Ruczinski I. (Ingo)
- Runz H. (Heiko)
- Ruotsalainen S. E. (Sanni E.)
- Russel P. (Pamela)
- Ruuska S. (Sarah)
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- Sabino E. C. (Ester Cerdeira)
- Sakornsakolpatl P. (Phuwanat)
- Salmi T. (Teea)
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- Salzberg S. (Steven)
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- Sankaran V. G. (Vijay G.)
- Savinainen K. (Kimmo)
- Scheller C. (Christopher)
- Schleutker J. (Johanna)
- Schmidt E. (Ellen)
- Schutzman J. (Jennifer)
- Schwander K. (Karen)
- Schwartz D. (David)
- Sciurba F. (Frank)
- Seidman C. (Christine)
- Seidman J. (Jonathan)
- Seitsonen S. (Sanna)
- Seo D. (Daekwan)
- Seo J.-S. (Jeong-Sun)
- Shcherban A. (Anastasia)
- Sheehan V. (Vivien)
- Shetty A. (Amol)
- Shetty A. (Aniket)
- Sheu W. H. (Wayne Hui-Heng)
- Shoemaker M. B. (M. Benjamin)
- Siirtola H. (Harri)
- Silver B. (Brian)
- Silvermanl E. (Edwin)
- Sinisalo J. (Juha)
- Sipi T. P. (Timo P.)
- Sipil T. (Tuomas)
- Sistonen T. (Tuuli)
- Smaoui N. (Nizar)
- Smith A. V. (Albert, V)
- Smith J. (Jennifer)
- Smith J. (Josh)
- Smith N. (Nicholas)
- Smith T. (Tanja)
- Smoller S. (Sylvia)
- Snively B. (Beverly)
- Soferlm T. (Tamar)
- Soini S. (Sirpa)
- Soininen H. (Hilkka)
- Stilp A. M. (Adrienne M.)
- Strauss E. (Erich)
- Streeten E. (Elizabeth)
- Su J. L. (Jessica Lasky)
- Sung Y. J. (Yun Ju)
- Sylvia J. (Jody)
- Sztalryd C. (Carole)
- Tabuenca J. G. (Javier Gracia)
- Taliun D. (Daniel)
- Tang H. (Hua)
- Tasanen K. (Kaisa)
- Taskinen M.-R. (Marja-Riitta)
- Taub M. (Margaret)
- Taylor K. D. (Kent D.)
- Taylor S. (Simeon)
- Telen M. (Marilyn)
- Teng E. (Edmond)
- Thornton T. A. (Timothy A.)
- Tienari P. (Pentti)
- Tinker L. (Lesley)
- Tirschwel D. (David)
- Tiwari H. (Hemant)
- Tracy R. P. (Russell P.)
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- Tuovila O. (Outi)
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- Usiskin K. (Keith)
- Uusitalo H. (Hannu)
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- Vaidya D. (Dhananjay)
- Vainio S. (Seppo)
- VandeHaar P. (Peter)
- Vasan R. S. (Ramachandran S.)
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- Voutilainen M. (Markku)
- Vrieze S. (Scott)
- Wahlfors T. (Tiina)
- Waits A. (Avram)
- Walker T. (Tarik)
- Wallace R. (Robert)
- Wan E. (Emily)
- Wang C. (Clarence)
- Wang F. F. (Fei Fei)
- Wang H. (Heming)
- Wang X. (Xulong)
- Waring J. (Jeff)
- Waring J. (Jeffrey)
- Waterworth D. (Dawn)
- Watson K. (Karol)
- Weeks D. E. (Daniel E.)
- Weir B. (Bruce)
- Weiss S. (Scott)
- Weng L.-C. (Lu-Chen)
- Whelan C. (Christopher)
- Wilier C. (Cristen)
- Williams K. (Kayleen)
- Williams L. K. (L. Keoki)
- Wilson C. (Carla)
- Wilson J. G. (James G.)
- Wolford B. (Brooke)
- Wong Q. (Quenna)
- Wong R. (Regis)
- Wu Y. (Ying)
- Xu E. (Ethan)
- Xu F. (Fanli)
- Xu H. (Huichun)
- Yanek L. R. (Lisa R.)
- Yang I. (Ivana)
- Yang R. (Robert)
- Yang R. (Rongze)
- Zaghlou N. (Norann)
- Zekavat M. (Maryam)
- Zhang Y. (Yingze)
- Zhao S. X. (Snow Xueyan)
- Zhao W. (Wei)
- Zhou W. (Wei)
- Zhou X. (Xiang)
- Zhu X. (Xiaofeng)
- Ziemann A. (Adam)
- Zni D. (Degui)
- Zody M. (Michael)
- Zoellner S. (Sebastian)
- Publication venue
- Springer Nature
- Publication date
- 01/01/2021
- Field of study
Abstract
Autosomal genetic analyses of blood lipids have yielded key insights for coronary heart disease (CHD). However, X chromosome genetic variation is understudied for blood lipids in large sample sizes. We now analyze genetic and blood lipid data in a high-coverage whole X chromosome sequencing study of 65,322 multi-ancestry participants and perform replication among 456,893 European participants. Common alleles on chromosome Xq23 are strongly associated with reduced total cholesterol, LDL cholesterol, and triglycerides (min P = 8.5 × 10−72), with similar effects for males and females. Chromosome Xq23 lipid-lowering alleles are associated with reduced odds for CHD among 42,545 cases and 591,247 controls (P = 1.7 × 10−4), and reduced odds for diabetes mellitus type 2 among 54,095 cases and 573,885 controls (P = 1.4 × 10−5). Although we observe an association with increased BMI, waist-to-hip ratio adjusted for BMI is reduced, bioimpedance analyses indicate increased gluteofemoral fat, and abdominal MRI analyses indicate reduced visceral adiposity. Co-localization analyses strongly correlate increased CHRDL1 gene expression, particularly in adipose tissue, with reduced concentrations of blood lipids
COVID-19 Host Genetics Initiative. A first update on mapping the human genetic architecture of COVID-19
- Author
- A Cerny (13566592)
- A Conen (13566478)
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- G-R Kleger (13566604)
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- Gabriella Doddato (10764909)
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- Michel Georges (69807)
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- N Boillat-Blanco (13566562)
- N Suh (13566589)
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- Noura S Abul-Husn (13567048)
- O Clerc (13566481)
- O Hugli (13566568)
- O Manuel (13566532)
- O Marchetti (13566484)
- O Pantet (13566574)
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- Olivier Malaise (421168)
- Olumide Adeleye (10905742)
- Opass Putchareon (13566955)
- Oreste De Vivo (13566754)
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- P Filippidis (13566520)
- P Montillier (13566631)
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- Paloma Menendez-Valladares (13567333)
- Pamela Raggi (13566823)
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- Paola Bergomi (9649394)
- Paola Petrocelli (13566853)
- Paolo Cameli (8467695)
- Paolo Di Domenico (13566847)
- Paolo Piacentini (10312815)
- Part Peterson (13566430)
- Pascale Huynen (13566271)
- Patrick Deelen (187548)
- Patrick Turley (7725947)
- Patrizia Zucchi (316158)
- Pattama Torvorapanit (13566958)
- Paul H Lee (8383278)
- Paul M Ridker (7949642)
- Paul Naaber (7116242)
- Paul O'Reilly (614014)
- Paul RHJ Timmers (8950553)
- Pauline Lanting (8946206)
- Per Magnus (76559)
- Pere Soler (13567291)
- Petty E Lauren (13566331)
- Phil Tsao (3503066)
- Philippe Leonard (13566274)
- Pier Giorgio Scotton (13566742)
- Pierpaolo Parravicini (13566763)
- Pierre Lepage (271528)
- Pierre-Yves Bochud (205597)
- Pietro Pinoli (7842704)
- Pimpayao Sodsai (9931517)
- Pintip Suchartlikitwong (9504663)
- Prabhu Arumugam (13567201)
- PY Bochud (13566514)
- Qin Qin Huang (4166860)
- R Friolet (13566469)
- R Merlet Viollet (13566505)
- Rachel G Liao (13566160)
- Rafael de Cid (5998061)
- Raffaele Bruno (162723)
- Raffaele Scala (7024661)
- Raghavendran Partha (659210)
- Rahul Gupta (358711)
- Raili Allos (13566436)
- Rana Hasanato (13567123)
- Rasoul Aliannejad (10054106)
- Ravaglia Sabrina (13566802)
- Raymond Chung (1955386)
- Raymond K Walters (13566184)
- Reedik Magi (61757)
- Renato Polimanti (3043917)
- Renzo Scaggiante (6104627)
- Riccardo Colombo (94203)
- Richard C Trembath (9257558)
- Richard H Scott (13567189)
- Richard J Packer (11075223)
- Rita Perna (13566829)
- Roaa T Halawani (13567141)
- Robert C Free (8880545)
- Robert C Green (13566985)
- Robert Frithiof (348314)
- Robert P Sebra (13567000)
- Robert Warmerdam (13566973)
- Roberta Russo (587655)
- Robin Lerner (13566895)
- Roger Colobran (824193)
- Ron Do (201540)
- Rosangela Artuso (13566787)
- Rossella Tita (9265091)
- Rui Li (4631)
- Ruth JF Loos (3810124)
- Ryan C Thompson (13566994)
- S Estoppey Younes (13566583)
- S Foucras (13566493)
- S Gonseth Nussle (13566577)
- Sabine Claassen (13566256)
- Sabino Scolletta (65043)
- Sabrina Ravaglia (6410091)
- Saeideh Ahmadi (13566940)
- Salam Massadeh (6628496)
- Saleh Alqahtani (3315315)
- Sam Bryant (13566172)
- Sam Choi (1977952)
- Sameer Chavan (3947117)
- Sameera AlJohani (3632836)
- Sami Koskelainen (13566451)
- Samina Ashraf (13566868)
- Samira Azarzar (13566268)
- Samuli Ripatti (144251)
- Sandra P Smieszek (13567231)
- 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)
- Tamer A Elhadidy (13566376)
- Tess Levy (11503363)
- Thanyawee Puthanakit (615421)
- Thitima B Suttichet (13566961)
- Tim D Spector (8543481)
- Tiziana Bachetti (361249)
- Tom Fowler (3624713)
- Tomas Segura (13567309)
- Tomislav Maricic (178988)
- Tomoko Nakanishi (344291)
- Tonu Esko (3310785)
- Tooraj Mirshahi (547507)
- Tormod Rogne (4818324)
- Triin Laisk (6103775)
- Tullio Trotta (13566769)
- V D'Acremont (13566580)
- V Eric Kerchberger (13566334)
- V Suttels (13566547)
- 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