Imperial College London
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DrJamesPeters

Faculty of Medicine, Department of Immunology and Inflammation

Clinical Reader in Rheumatology
 
 
 
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j.peters

 
 
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ICTEM buildingHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Lyons:2019:10.1038/s41467-019-12515-9,
author = {Lyons, PA and Peters, JE and Alberici, F and Liley, J and Coulson, RMR and Astle, W and Baldini, C and Bonatti, F and Cid, MC and Elding, H and Emmi, G and Epplen, J and Guillevin, L and Jayne, DRW and Jiang, T and Gunnarsson, I and Lamprecht, P and Leslie, S and Little, MA and Martorana, D and Moosig, F and Neumann, T and Ohlsson, S and Quickert, S and Ramirez, GA and Rewerska, B and Schett, G and Sinico, RA and Szczeklik, W and Tesar, V and Vukcevic, D and Akil, M and Barratt, J and Basu, N and Butterworth, AS and Bruce, I and Clarkson, M and Conlon, N and DasGupta, B and Doulton, TWR and Espígol-Frigolé, G and Flossmann, O and Gabrielli, A and Gasior, J and Gregorini, G and Guida, G and Hernández-Rodríguez, J and Hruskova, Z and Hudson, A and Knight, A and Lanyon, P and Luqmani, R and Magliano, M and Manfredi, AA and Marguerie, C and Maritati, F and Marvisi, C and McHugh, NJ and Molloy, E and Motyer, A and Mukhtyar, C and Padyukov, L and Pesci, A and Prieto-Gonzalez, S and Ramentol-},
doi = {10.1038/s41467-019-12515-9},
journal = {Nature Communications},
title = {Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status},
url = {http://dx.doi.org/10.1038/s41467-019-12515-9},
volume = {10},
year = {2019}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare inflammatory disease of unknown cause. 30% of patients have anti-neutrophil cytoplasmic antibodies (ANCA) specific for myeloperoxidase (MPO). Here, we describe a genome-wide association study in 676 EGPA cases and 6,809 controls, that identifies 4 EGPA-associated loci through conventional case-control analysis, and 4 additional associations through a conditional false discovery rate approach. Many variants are also associated with asthma and six are associated with eosinophil count in the general population. Through Mendelian randomisation, we show that a primary tendency to eosinophilia contributes to EGPA susceptibility. Stratification by ANCA reveals that EGPA comprises two genetically and clinically distinct syndromes. MPO+ ANCA EGPA is an eosinophilic autoimmune disease sharing certain clinical features and an HLA-DQ association with MPO+ ANCA-associated vasculitis, while ANCA-negative EGPA may instead have a mucosal/barrier dysfunction origin. Four candidate genes are targets of therapies in development, supporting their exploration in EGPA.
AU  - Lyons,PA
AU  - Peters,JE
AU  - Alberici,F
AU  - Liley,J
AU  - Coulson,RMR
AU  - Astle,W
AU  - Baldini,C
AU  - Bonatti,F
AU  - Cid,MC
AU  - Elding,H
AU  - Emmi,G
AU  - Epplen,J
AU  - Guillevin,L
AU  - Jayne,DRW
AU  - Jiang,T
AU  - Gunnarsson,I
AU  - Lamprecht,P
AU  - Leslie,S
AU  - Little,MA
AU  - Martorana,D
AU  - Moosig,F
AU  - Neumann,T
AU  - Ohlsson,S
AU  - Quickert,S
AU  - Ramirez,GA
AU  - Rewerska,B
AU  - Schett,G
AU  - Sinico,RA
AU  - Szczeklik,W
AU  - Tesar,V
AU  - Vukcevic,D
AU  - Akil,M
AU  - Barratt,J
AU  - Basu,N
AU  - Butterworth,AS
AU  - Bruce,I
AU  - Clarkson,M
AU  - Conlon,N
AU  - DasGupta,B
AU  - Doulton,TWR
AU  - Espígol-Frigolé,G
AU  - Flossmann,O
AU  - Gabrielli,A
AU  - Gasior,J
AU  - Gregorini,G
AU  - Guida,G
AU  - Hernández-Rodríguez,J
AU  - Hruskova,Z
AU  - Hudson,A
AU  - Knight,A
AU  - Lanyon,P
AU  - Luqmani,R
AU  - Magliano,M
AU  - Manfredi,AA
AU  - Marguerie,C
AU  - Maritati,F
AU  - Marvisi,C
AU  - McHugh,NJ
AU  - Molloy,E
AU  - Motyer,A
AU  - Mukhtyar,C
AU  - Padyukov,L
AU  - Pesci,A
AU  - Prieto-Gonzalez,S
AU  - Ramentol-Sintas,M
AU  - Reis,P
AU  - Roccatello,D
AU  - Rovere-Querini,P
AU  - Salvarani,C
AU  - Santarsia,F
AU  - Solans-Laque,R
AU  - Soranzo,N
AU  - Taylor,J
AU  - Wessels,J
AU  - Zwerina,J
AU  - Terrier,B
AU  - Watts,RA
AU  - Vaglio,A
AU  - Holle,JU
AU  - Wallace,C
AU  - Smith,KGC
DO  - 10.1038/s41467-019-12515-9
PY  - 2019///
SN  - 2041-1723
TI  - Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status
T2  - Nature Communications
UR  - http://dx.doi.org/10.1038/s41467-019-12515-9
UR  - http://hdl.handle.net/10044/1/74127
VL  - 10
ER  -
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