6 research outputs found
Genome-wide analysis of 944 133 individuals provides insights into the etiology of haemorrhoidal disease
- Author
- Banasik K.
- Becker T.
- Beyder A.
- Bokelmann F.
- Brunak S.
- Buch S.
- Burmeister G.
- Chen S.
- Clausnitzer H.
- Cossais F.
- D'Amato M.
- Datz C.
- Degenhardt F.
- Doniec M.
- Ellinghaus D.
- Erikstrup C.
- Esko T.
- Farrugia G.
- Forster M.
- Franke A.
- Frey N.
- Fritsche L.
- Gabrielsen M.
- Gross J.
- Gräßle T.
- Gsur A.
- Hampe J.
- Hemmrich-Stanisak G.
- Hendricks A.
- Hinz S.
- Hveem K.
- Ito G.
- Jongen J.
- Junker R.
- Juzenas S.
- Jørgensen I.
- Kahlke V.
- Karlsen T.
- Kruis W.
- Kupcinskas J.
- Laubert T.
- Laudes M.
- Leendertz F.
- Lieb W.
- Limperger V.
- Margetis N.
- Mayr G.
- Mätz-Rensing K.
- Ness-Jensen E.
- Noblin E.
- Nowak-Göttl U.
- Németh C.
- Pandit A.
- Pedersen O.
- Peleikis H.
- Peuker K.
- Rodriguez C.
- Rosenstiel P.
- Röcken C.
- Rühlemann M.
- Sazonova O.
- Schafmayer C.
- Schniewind B.
- Schulzky M.
- Skieceviciene J.
- Skogholt A.
- Strege P.
- Teder-Laving M.
- Tepel J.
- Thomas L.
- Uellendahl-Werth F.
- Ullum H.
- Vacic V.
- Vanderwerff B.
- Vogel I.
- Volzke H.
- von Fersen L.
- von Schönfels W.
- Wedel T.
- Wilking J.
- Wittig M.
- Zawistowski M.
- Zeissig S.
- Zheng T.
- Zobel M.
- Publication venue
- 'BMJ'
- Publication date
- 01/01/2021
- Field of study
Get PDFMapping the human genetic architecture of COVID-19
- Author
- Abdelrazik M.
- Abdullah T.
- Abe R.
- Abe S.
- Abecasis G. R.
- Abel L.
- Abernathy C.
- Abraheem A.
- Abul-Husn N. S.
- Acosta-Herrera M.
- Acquilini D.
- Adachi T.
- Adachi Y.
- Adams C.
- Adams K.
- Adanini O.
- Adeleye O.
- Adeniji K.
- Adra D.
- Afifi N.
- Afilalo J.
- Afilalo M.
- Afolabi D.
- Afrasiabi Z.
- Afset J. E.
- Agasou A.
- Aghemo A.
- Agranoff D.
- Agrawal S.
- Aguirre L. A.
- Agwuh K.
- Ahmad H. F.
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- Akinkugbe O.
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- Zeberg H.
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- Zguro K.
- Zhai R.
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- Zheng C.
- Zheng T.
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- Zoller H.
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- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2021
- Field of study
Get PDFThe genetic make-up of an individual contributes to the susceptibility and response to viral infection. Although environmental, clinical and social factors have a role in the chance of exposure to SARS-CoV-2 and the severity of COVID-191,2, host genetics may also be important. Identifying host-specific genetic factors may reveal biological mechanisms of therapeutic relevance and clarify causal relationships of modifiable environmental risk factors for SARS-CoV-2 infection and outcomes. We formed a global network of researchers to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity. Here we describe the results of three genome-wide association meta-analyses that consist of up to 49,562 patients with COVID-19 from 46 studies across 19 countries. We report 13 genome-wide significant loci that are associated with SARS-CoV-2 infection or severe manifestations of COVID-19. Several of these loci correspond to previously documented associations to lung or autoimmune and inflammatory diseases3–7. They also represent potentially actionable mechanisms in response to infection. Mendelian randomization analyses support a causal role for smoking and body-mass index for severe COVID-19 although not for type II diabetes. The identification of novel host genetic factors associated with COVID-19 was made possible by the community of human genetics researchers coming together to prioritize the sharing of data, results, resources and analytical frameworks. This working model of international collaboration underscores what is possible for future genetic discoveries in emerging pandemics, or indeed for any complex human disease
Genomewide Association Study of Severe Covid-19 with Respiratory Failure.
- Author
- Acosta-Herrera M
- Aghemo A
- Albillos A
- Albrecht W
- Aliberti S
- Aneli S
- Angelini C
- Asselta R
- Aziz F
- Badalamenti S
- Baldini M
- Banales JM
- Bandera A
- Baselli G
- Bettini LR
- Biondi A
- Blanco-Grau A
- Blandino Ortiz A
- Blasi F
- Bocciolone M
- Bonfanti P
- Bosari S
- Braun N
- Bujanda L
- Buti M
- Caballero-Garralda A
- Cardamone G
- Carrabba M
- Carreras Nolla A
- Castro P
- Cazzaniga M
- Cea C
- Cecconi M
- Ceriotti F
- Chercoles AG
- Ciccarelli M
- Costantino G
- D'Amato M
- D'Angiò M
- de Cid R
- de Pablo R
- Degenhardt F
- Duga S
- ElAbd H
- Ellinghaus D
- Erdmann J
- Faverio P
- Fernández J
- Ferrer R
- Ferrusquía-Acosta J
- Figuera Basso ME
- Folseraas T
- Foti G
- Fracanzani AL
- Franke A
- Galván-Femenia I
- Garcia-Etxebarria K
- Garcia-Fernandez A-E
- García Sánchez F
- Gassner C
- Goerg S
- Gori A
- Grasselli G
- Grimsrud MM
- Gualtierotti R
- Hemmrich-Stanisak G
- Hernandez-Tejero M
- Hov JR
- Invernizzi P
- Izquierdo-Sanchez L
- Jiménez D
- Julià A
- Juzenas S
- Karlsen TH
- Kurihara H
- Kässens J
- Latiano A
- Lenz TL
- Lleo A
- Marsal S
- Martinelli-Boneschi F
- Martín J
- Martínez N
- Mateos B
- Matullo G
- May S
- Mesonero F
- Milani C
- Miozzo M
- Montano N
- Monzani V
- Moreira L
- Moreno V
- Muñiz-Diaz E
- My I
- Nafria Jimenez B
- Navas E
- Nieto R
- Omodei P
- Paccapelo C
- Palmieri O
- Palom A
- Paraboschi EM
- Pelusi S
- Peschuck A
- Pesenti A
- Pestaña D
- Peter W
- Peyvandi F
- Prati D
- Preatoni P
- Protti A
- Pumarola T
- Quereda C
- Rimoldi V
- Riveiro-Barciela M
- Roade L
- Rodrigues PM
- Rodriguez-Frias F
- Rodríguez-Gandía M
- Romero-Gómez M
- Rühlemann MC
- Sacchi N
- Sandoval E
- Santoro L
- Schaefer M
- Schulzky M
- Scudeller L
- Severe Covid-19 GWAS Group
- Solier A
- Sumoy L
- Tanck A
- Tentorio P
- Terranova L
- Téllez L
- Uellendahl-Werth F
- Valenti L
- Valsecchi MG
- Voza A
- Wendorff M
- Wesse T
- Wienbrandt L
- Wittig M
- Yi X
- Zanella A
- Zheng T
- Özer O
- Publication venue
- 'Massachusetts Medical Society'
- Publication date
- 01/01/2020
- Field of study
Get PDFBACKGROUND: There is considerable variation in disease behavior among patients infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus that causes coronavirus disease 2019 (Covid-19). Genomewide association analysis may allow for the identification of potential genetic factors involved in the development of Covid-19. METHODS: We conducted a genomewide association study involving 1980 patients with Covid-19 and severe disease (defined as respiratory failure) at seven hospitals in the Italian and Spanish epicenters of the SARS-CoV-2 pandemic in Europe. After quality control and the exclusion of population outliers, 835 patients and 1255 control participants from Italy and 775 patients and 950 control participants from Spain were included in the final analysis. In total, we analyzed 8,582,968 single-nucleotide polymorphisms and conducted a meta-analysis of the two case-control panels. RESULTS: We detected cross-replicating associations with rs11385942 at locus 3p21.31 and with rs657152 at locus 9q34.2, which were significant at the genomewide level (P<5×10-8) in the meta-analysis of the two case-control panels (odds ratio, 1.77; 95% confidence interval [CI], 1.48 to 2.11; P = 1.15×10-10; and odds ratio, 1.32; 95% CI, 1.20 to 1.47; P = 4.95×10-8, respectively). At locus 3p21.31, the association signal spanned the genes SLC6A20, LZTFL1, CCR9, FYCO1, CXCR6 and XCR1. The association signal at locus 9q34.2 coincided with the ABO blood group locus; in this cohort, a blood-group-specific analysis showed a higher risk in blood group A than in other blood groups (odds ratio, 1.45; 95% CI, 1.20 to 1.75; P = 1.48×10-4) and a protective effect in blood group O as compared with other blood groups (odds ratio, 0.65; 95% CI, 0.53 to 0.79; P = 1.06×10-5). CONCLUSIONS: We identified a 3p21.31 gene cluster as a genetic susceptibility locus in patients with Covid-19 with respiratory failure and confirmed a potential involvement of the ABO blood-group system. (Funded by Stein Erik Hagen and others.)
Detailed stratified GWAS analysis for severe COVID-19 in four European populations
- Author
- Acosta-Herrera M.
- Afset J.E.
- Aghemo A.
- Albano G.
- Albillos A.
- Albrecht W.
- Aliberti S.
- Altmüller J.
- Ampuero J.
- Andrade V.
- Angelini C.
- Arana-Arri E.
- Arora J.
- Asselta R.
- Augustin M.
- Ayo N.I.
- Aziz F.
- Azuure C.
- Azzolini E.
- Bacher P.
- Badalamenti S.
- Badia J.R.
- Bahmer T.
- Baldini M.
- Bals R.
- Banales J.M.
- Banasik K.
- Bandera A.
- Barreira A.
- Barretina J.
- Baselli G.
- Bellani G.
- Bellelli G.
- Bellinghausen C.
- Bergan J.
- Berger M.M.
- Bettini L.Rachele
- Bianco C.
- Binatti E.
- Biondi A.
- Blanco-Grau A.
- Blasi F.
- Blay N.
- Boada M.
- Bocciolone M.
- Bombace S.
- Bonfanti P.
- Bosari S.
- Braun A.
- Braun N.
- Brenner T.
- Brunak S.
- Bujanda L.
- Buti M.
- Caballero-Garralda A.
- Calderón E.J.
- Cappadona C.
- Cardamone G.
- Carpani R.
- Carrabba M.
- Casalone E.
- Castoldi M.
- Castro P.
- Cavallero A.
- Cazzaniga M.
- Cea C.
- Cecconi M.
- Cejudo T.G.
- Ceriotti F.
- Chercoles A.G.
- Cherubini A.
- Chueca N.
- Ciccarelli M.
- Cid R.
- Ciesek S.
- Citerio G.
- Contro E.
- Cordioli M.
- Cornberg M.
- Cornely O.A.
- Cortes B.
- Costantino G.
- Cáceres M.
- D'Amato M.
- D'Angiò M.
- Damås J.K.
- de Salazar A.
- Degenhardt F.
- Delgado J.
- Dopazo J.
- Dreher M.
- Dudman S.
- Duga S.
- Dyrhol-Riise A.M.
- Eggermann T.
- ElAbd H.
- Ellinghaus D.
- Erdmann J.
- España P.P.
- Farre X.
- Faverio P.
- Fazaal J.
- Feldt T.
- Fernández J.
- Ferrando C.
- Ferrer R.
- Figuera Basso M.E.
- Folseraas T.
- Foti G.
- Fracanzani A.L.
- Franke A.
- Friaza V.
- Gaede K.I.
- Galimberti D.
- Gallego-Durán R.
- Galván-Femenia I.
- Ganna A.
- Garbarino L.
- Garcia F.
- Garcia-Etxebarria K.
- Garcia-Fernandez A.E.
- Gassner C.
- Gerussi A.
- Glück A.
- Goerg S.
- Goikoetxea J.
- Gori A.
- Grasselli G.
- Grimsrud M.M.
- Gualtierotti R.
- Guerrero J.M.
- Gustad L.T.
- Gutiérrez-Stampa M.A.
- Haider S.
- Hanses F.
- Haschka D.
- Heggelund L.
- Hehr U.
- Heidecker B.
- Heilmann-Heimbach S.
- Helbig E.T.
- Hemmrich-Stanisak G.
- Hernandez-Tejero M.
- Hernández I.
- Herr C.
- Heyckendorf J.
- Hinney A.
- Hoff D.A.L.
- Hoffmann P.
- Holten A.R.
- Holter J.C.
- Horra C.
- Hov J.R.
- Hu C.
- Illig T.
- Intxausti M.
- Invernizzi P.
- Izquierdo-Sanchez L.
- Jensen B.
- Jiménez D.
- Joannidis M.
- Julià A.
- Juzenas S.
- Karadeniz Z.
- Karlsen T.H.
- Keitel V.
- Khodamoradi Y.
- Kildal A.B.
- Klein S.
- Knopp L.
- Koehler P.
- Kogevinas M.
- Kopfnagel V.
- Kraft J.
- Kurihara H.
- Kurth F.
- Kurth I.
- Kässens J.
- Lamorte G.
- Landmesser U.
- Lange C.
- Latiano A.
- Lehmann C.
- Lenning O.B.
- Lenz T.L.
- Lerga-Jaso J.
- Lind A.
- Lippert L.J.
- Lleo A.
- Ludwig K.U.
- Ludwig N.
- Maj C.
- Malvestiti F.
- Mantovani A.
- Manunta M.
- Marquié M.
- Marsal S.
- Martinelli-Boneschi F.
- Martín J.
- Martínez N.
- Marx N.
- Mateos B.
- Matullo G.
- May S.
- Maya-Miles D.
- Mayer A.
- Mazzocco M.
- Medrano F.J.
- Mesonero F.
- Miozzo M.
- Montano N.
- Monzani V.
- Moreno V.
- Morilla R.
- Muscatello A.
- Muñiz-Diaz E.
- My I.
- Myhre R.
- Müller F.
- Müller K.E.
- Nafria-Jimenez B.
- Navas E.
- Neb H.
- Nebel A.
- Niemi M.E.K.
- Nieto R.
- Nkambule L.
- Nolla A.C.
- Nöthen M.M.
- Omodei P.
- Ortiz A.B.
- Ostadreza M.
- Pablo R.
- Paccapelo C.
- Palmieri O.
- Palom A.
- Paraboschi E.M.
- Pelusi S.
- Peschuck A.
- Pesenti A.
- Pestaña D.
- Peter W.
- Peyvandi F.
- Pezzoli G.
- Pigazzini S.
- Pink I.
- Poller W.
- Pontali E.
- Prati D.
- Preatoni P.
- Protti A.
- Protzer U.
- Pumarola T.
- Quereda C.
- Quero J.H.
- Ramirez A.
- Rando-Segura A.
- Raychaudhuri S.
- Reverter E.
- Rimoldi V.
- Ripke S.
- Risnes K.
- Riveiro-Barciela M.
- Roade L.
- Rodrigues P.M.
- Rodriguez-Frias F.
- Rodríguez-Gandía M.
- Rojas I.
- Romero-Gómez M.
- Rosenstiel P.
- Ruello A.
- Ruiz A.
- Rybniker J.
- Rühlemann M.C.
- Sancho C.
- Sander L.E.
- Sandoval E.
- Santoro L.
- Scarpini E.
- Schaefer B.
- Schaefer M.
- Schmidt A.
- Schneider J.
- Schommers P.
- Schreiber S.
- Schröder J.
- Schulte E.C.
- Scollo C.
- Seilmaier M.J.
- Skogen V.
- Skurk C.
- Solier A.
- Solligård E.
- Spinner C.D.
- Sumoy L.
- Suwalski P.
- Sánchez F.G.
- Tanck A.
- Teles A.
- Tentorio P.
- Terranova L.
- Thibeault C.
- Toapanta D.
- Tomasi M.
- Tonby K.
- Tran F.
- Téllez L.
- Uellendahl-Werth F.
- Urrechaga E.
- Vadla M.S.
- Valenti L.
- Valsecchi M.G.
- Vehreschild M.J.G.T
- Volland S.
- Voza A.
- Wacker E.M.
- Walter J.
- Wang X.
- Wendorff M.
- Wesse T.
- Wienbrandt L.
- Wilfling S.
- Wittig M.
- Witzke O.
- Yi X.
- Zanella A.
- Zheng T.
- Zoller H.
- Özer O.
- Publication venue
- 'Oxford University Press (OUP)'
- Publication date
- 15/07/2022
- Field of study
Get PDFGiven the highly variable clinical phenotype of Coronavirus disease 2019 (COVID-19), a deeper analysis of the host genetic contribution to severe COVID-19 is important to improve our understanding of underlying disease mechanisms. Here, we describe an extended GWAS meta-analysis of a well-characterized cohort of 3255 COVID-19 patients with respiratory failure and 12 488 population controls from Italy, Spain, Norway and Germany/Austria, including stratified analyses based on age, sex and disease severity, as well as targeted analyses of chromosome Y haplotypes, the human leukocyte antigen (HLA) region and the SARS-CoV-2 peptidome. By inversion imputation, we traced a reported association at 17q21.31 to a ~ 0.9-Mb inversion polymorphism that creates two highly differentiated haplotypes and characterized the potential effects of the inversion in detail. Our data, together with the 5th release of summary statistics from the COVID-19 Host Genetics Initiative including non-Caucasian individuals, also identified a new locus at 19q13.33, including NAPSA, a gene which is expressed primarily in alveolar cells responsible for gas exchange in the lung
Mapping the human genetic architecture of COVID-19
- Author
- Abdelrazik M
- Abdullah T
- Abe R
- Abe S
- Abecasis GR
- Abel L
- Abernathy C
- Abraheem A
- Abul-Husn NS
- Acosta-Herrera M
- Acquilini D
- Acquilini D
- Adachi T
- Adachi Y
- Adams C
- Adams K
- Adanini O
- Adeleye O
- Adeniji K
- Adra D
- Afifi N
- Afilalo J
- Afilalo M
- Afolabi D
- Afrasiabi Z
- Afset JE
- Agasou A
- Aghemo A
- Agranoff D
- Agrawal S
- Aguirre LA
- Agwuh K
- Ahmad HF
- Ahmad N
- Ahmed A
- Ahmed C
- Ahmed KA
- Ai M
- Ail D
- Akeroyd L
- Akhtar MN
- Akhtar S
- Akinkugbe O
- Aksentijevich A
- Al Thani A
- Al-Muftah W
- Al-Sarraj Y
- Alarcon C
- Alarcon-Riquelme ME
- Alasdair F
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- Costantino G
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- Coton Z
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- de Gordoa LO-R
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- De la Horra C
- De Neef M
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- zu Bentrup FM
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- Zwinderman AHK
- Zyndorf M
- Publication venue
- Publication date
- 01/01/2021
- Field of study
Get PDFThe genetic make-up of an individual contributes to the susceptibility and response to viral infection. Although environmental, clinical and social factors have a role in the chance of exposure to SARS-CoV-2 and the severity of COVID-191,2, host genetics may also be important. Identifying host-specific genetic factors may reveal biological mechanisms of therapeutic relevance and clarify causal relationships of modifiable environmental risk factors for SARS-CoV-2 infection and outcomes. We formed a global network of researchers to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity. Here we describe the results of three genome-wide association meta-analyses that consist of up to 49,562 patients with COVID-19 from 46 studies across 19 countries. We report 13 genome-wide significant loci that are associated with SARS-CoV-2 infection or severe manifestations of COVID-19. Several of these loci correspond to previously documented associations to lung or autoimmune and inflammatory diseases3,4,5,6,7. They also represent potentially actionable mechanisms in response to infection. Mendelian randomization analyses support a causal role for smoking and body-mass index for severe COVID-19 although not for type II diabetes. The identification of novel host genetic factors associated with COVID-19 was made possible by the community of human genetics researchers coming together to prioritize the sharing of data, results, resources and analytical frameworks. This working model of international collaboration underscores what is possible for future genetic discoveries in emerging pandemics, or indeed for any complex human disease
A second update on mapping the human genetic architecture of COVID-19
- Author
- Abd Elghafar MS
- Abdel-Aziz M
- Abdelrazik M
- Abdullah MS
- Abe R
- Abe S
- Abel L
- Abel L
- Abernathy C
- Abraham R
- Abraheem A
- Abu Alragheb BO
- Abulail JA
- Acklery A
- Acosta-Herrera M
- Adachi T
- Adachi Y
- Adam R
- Adams C
- Adams K
- Adams N
- Adanini O
- Afifi N
- Afilalo J
- Afilalo M
- Afolabi D
- Afrasiabi Z
- Afset JE
- Agasou A
- Aghemo A
- Agravante K
- Agrawal A
- Agrawal S
- Aguado JM
- Aguilar C
- Aguilar SEV
- Aguilar-Salinas CA
- Aguilera-Albesa S
- Agüero D
- Ahmad HF
- Ahmad N
- Ahmadhaider N
- Ahmed A
- Ahmed C
- Ahram M
- Ai M
- Ain Q
- Aitkin E
- Akeroyd L
- Akhtar MN
- Akinkugbe O
- Al-Ani A
- Al-Ja’afreh MM
- Al-Kadash A
- Al-Kasasbeh MM
- Al-Moasseb H
- Al-Muftah W
- Al-Sarraj Y
- Alamer LM
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- Yoshihara T
- Yoshiya K
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- Yun N
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- Yáñez Z
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- Zamudio IPM
- Zanella A
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- Zapatamartinez M
- Zarate R
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- Zawadzki P
- Zawati MH
- Zborowski AC
- Zeberg H
- Zechner M
- Zhang Q
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- Zheng C
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- Zhlawi MWJ
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- Zorloni C
- Zuñiga-Pacheco P
- Zárate RN
- Zúñiga-Ramos J
- Álvarez BG
- Ávila-Arcos MA
- Ávila-Arcos MC
- Özer O
- Überla K
- Þorsteinsdóttir U
- Publication venue
- Nature Research
- Publication date
- 21/06/2023
- Field of study
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