K
Karl Gafney
Researcher at Norfolk and Norwich University Hospital
Publications - 4
Citations - 814
Karl Gafney is an academic researcher from Norfolk and Norwich University Hospital. The author has contributed to research in topics: Endoplasmic reticulum aminopeptidase 2 & Genome-wide association study. The author has an hindex of 3, co-authored 4 publications receiving 635 citations.
Papers
More filters
Journal ArticleDOI
Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.
Adrian Cortes,Johanna Hadler,J.P. Pointon,Philip Robinson,Tugce Karaderi,Paul Leo,Katie Cremin,Karena Pryce,Jessica Harris,Sang-Gug Lee,Kyung Bin Joo,Shim S-C.,Michael H. Weisman,Minghong Ward,Xiaodong Zhou,Garchon H-J.,Gilles Chiocchia,Johannes C. Nossent,Benedicte A. Lie,Øystein Førre,J. Tuomilehto,J. Tuomilehto,J. Tuomilehto,K. Laiho,Lei Jiang,Yu Liu,Xin Wu,Linda A. Bradbury,Dirk Elewaut,Ruben Burgos-Vargas,Simon Stebbings,Louise Appleton,Claire Farrah,J. Lau,Tony J. Kenna,Nigil Haroon,Manuel A. R. Ferreira,Jian Yang,J Mulero,José Luis Fernández-Sueiro,Miguel A. Gonzalez-Gay,Carlos López-Larrea,Panagiotis Deloukas,Peter Donnelly,Paul Bowness,Karl Gafney,Hill Gaston,Dafna D. Gladman,Dafna D. Gladman,Proton Rahman,Walter P. Maksymowych,Huji Xu,Crusius Jba.,I E van der Horst-Bruinsma,Chou C-T.,R. Valle-Oñate,Consuelo Romero-Sánchez,Inger Myrnes Hansen,Fernando Pimentel-Santos,Robert D. Inman,Vibeke Videm,Javier Martín,Maxime Breban,Maxime Breban,J. D. Reveille,David M. Evans,Kim T-H.,B P Wordsworth,Matthew A. Brown +68 more
TL;DR: In this paper, the authors used the Illumina Immunochip microarray to perform a case-control association study involving 10,619 individuals with ankylosing spondylitis (cases) and 15,145 controls.
Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci
Adrian Cortes,Johanna Hadler,J.P. Pointon,Philip Robinson,Tugce Karaderi,Paul Leo,Katie Cremin,Karena Pryce,Jessica Harris,Sang-Gug Lee,Kyung Bin Joo,Seung-Cheol Shim,Michael H. Weisman,M. M. Ward,Xiaodong Zhou,Henri-Jean Garchon,Gilles Chiocchia,Johannes C. Nossent,Benedicte A. Lie,Øystein Førre,J. Tuomilehto,K. Laiho,Lei Jiang,Yu Liu,Xin Wu,Linda A. Bradbury,Dirk Elewaut,Ruben Burgos-Vargas,Simon Stebbings,L H Appleton,Claire Farrah,J. Lau,Tony J. Kenna,Nigil Haroon,Ferreira,Jian Yang,J Mulero,José Luis Fernández-Sueiro,Gonzalez-Gay,Carlos López-Larrea,Panagiotis Deloukas,Peter Donnelly,Paul Bowness,Karl Gafney,H. Gaston,Dafna D. Gladman,Proton Rahman,Walter P. Maksymowych,Huji Xu,J. B. A. Crusius,I E van der Horst-Bruinsma,Chung-Tei Chou,R. Valle-Oñate,Consuelo Romero-Sánchez,Inger Myrnes Hansen,Fernando Pimentel-Santos,Robert D. Inman,Vibeke Videm,Javier Martín,Maxime Breban,J. D. Reveille,David M. Evans,Tae-Hwan Kim,B P Wordsworth,Brown +64 more
TL;DR: Two ankylosing spondylitis–associated regions have now been identified encoding four aminopeptidases that are involved in peptide processing before major histocompatibility complex (MHC) class I presentation.
Journal ArticleDOI
ERAP2 is associated with ankylosing spondylitis in HLA-B27-positive and HLA-B27-negative patients
Philip Robinson,Mary-Ellen Costello,Paul Leo,Linda A. Bradbury,Kelly A. Hollis,Adrian Cortes,Seung-Hun Lee,Kyung Bin Joo,Seung Cheol Shim,Michael H. Weisman,Michael Ward,Xiaodong Zhou,Henri Jean Garchon,Gilles Chiocchia,Johannes C. Nossent,Johannes C. Nossent,Benedicte A. Lie,Øystein Førre,Jaakko Tuomilehto,Jaakko Tuomilehto,Jaakko Tuomilehto,Kari Laiho,Lei Jiang,Yu Liu,Xin Wu,Dirk Elewaut,Ruben Burgos-Vargas,Lianne S. Gensler,Simon Stebbings,Nigil Haroon,Juan Mulero,José Luis Fernández-Sueiro,Miguel A. Gonzalez-Gay,Carlos López-Larrea,Paul Bowness,Karl Gafney,J. S. H. Gaston,Dafna D. Gladman,Dafna D. Gladman,Proton Rahman,Walter P. Maksymowych,Huji Xu,Irene E. van der Horst-Bruinsma,C.T. Chou,C.T. Chou,Raphael Valle-Oñate,Maria Consuelo Romero-Sanchez,Inger Myrnes Hansen,Fernando Pimentel-Santos,Robert D. Inman,Javier Martin,Maxime Breban,David M. Evans,David M. Evans,John D. Reveille,Tae-Hwan Kim,B. Paul Wordsworth,Matthew A. Brown +57 more
Abstract: The association of endoplasmic reticulum aminopeptidase 2 (ERAP2) with ankylosing spondylitis (AS) was recently described in the large International Genetics of AS Consortium Immunochip study. Variants in ERAP2 have also been associated with inflammatory bowel disease, psoriasis, acute anterior uveitis and birdshot chorioretinopathy. Subsequent investigation demonstrated an association of ERAP2 with AS which was present when one conditioned on one of the two independent haplotypes of ERAP1 associated with AS or when HLA-B27-negative patients were analysed separately. These two analyses provide analogous evidence for the association of ERAP2 with AS in HLA-B27-negative cases because of the genetic interaction between HLA-B27 and the AS-associated ERAP1 variants in AS cases. ERAP1 and ERAP2 are located on chromosome 5q15 in the opposite orientation. The locus is challenging to analyse because of the strong linkage disequilibrium (LD) across the locus and the epistasis between ERAP1 and HLA-B alleles associated with AS. We therefore sought to investigate the association of ERAP2 with AS in HLA-B27-positive patients. This is of clinical importance because functional studies have demonstrated that the strongly AS-protective variant rs2248374 causes a functional ERAP2 protein knockout, because its G allele causes a loss of ERAP2 protein expression. There is also a variant of ERAP2 which changes its enzyme catalytic activity and specificity (rs2549782, K392A). Because this is in almost complete LD with rs2248374 (1000 Genomes D′=1.00, r2=0.90), it is almost never translated in vivo. Further, the very strong LD between these markers means that analysis of rs2549782 for association would yield results almost identical to the results for rs2248374 presented below. Therefore, it is of relevance to determine whether the association of ERAP2 with HLA-B27-negative disease is also found in HLA-B27-positive cases, since ERAP inhibition may offer a novel therapeutic for AS...
The association of endoplasmic reticulum aminopeptidase 2 (ERAP2) with ankylosing spondylitis (AS) was recently described in the large International Genetics of AS Consortium
Philip Robinson,Mary-Ellen Costello,Paul Leo,Linda A. Bradbury,Kelly A. Hollis,Adrian Cortes,Seunghun Lee,Kyung Bin Joo,Seung-Cheol Shim,Michael H. Weisman,Michael E. Ward,Xiaodong Zhou,Henri-Jean Garchon,Gilles Chiocchia,Johannes C. Nossent,Benedicte A. Lie,Øystein Førre,Jaakko Tuomilehto,Kari Laiho,Lei Jiang,Yu Liu,Xin Wu,Dirk Elewaut,Rubén Burgos-Vargas,Lianne S. Gensler,Simon Stebbings,Nigil Haroon,Juan Mulero,José Luis Fernández-Sueiro,Miguel A. González-Gay,Carlos López-Larrea,Paul Bowness,Karl Gafney,J. S. H. Gaston,Dafna D. Gladman,Proton Rahman,Walter P. Maksymowych,Huji Xu,Irene E. van der Horst-Bruinsma,Chung-Tei Chou,Raphael Valle-Oñate,Maria Consuelo Romero-Sanchez,Inger Myrnes Hansen,Fernando Pimentel-Santos,Robert D. Inman,Javier Martín,Maxime Breban,David M. Evans,John D. Reveille,Tae Hwan Kim,B. Paul Wordsworth,Matthew A. Brown +51 more
TL;DR: These two analysesprovide analogous evidence for the association of ERAP2 with AS in HLA-B27-negative cases because of the genetic interaction between HLA -B27 and the AS-associated ERAP1 variants in AScases.