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Cited by 893

The DOI matches its Crossref record; 45 of the 45 references it cites were found in a registry or an index.

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility

Open access
The Australo-Anglo-American Spondyloarthritis Consortium (TASC), Evans, David M, the Wellcome Trust Case Control Consortium 2 (WTCCC2), Spondyloarthritis Research Consortium of Canada (SPARCC), Spencer, Chris C A, Pointon, Jennifer J, Su, Zhan, Harvey, David, Kochan, Grazyna, Oppermann, Udo, Dilthey, Alexander, Pirinen, Matti, Stone, Millicent A, Appleton, Louise, Moutsianas, Loukas, Leslie, Stephen, Wordsworth, Tom, Kenna, Tony J, Karaderi, Tugce, Thomas, Gethin P, Ward, Michael M, Weisman, Michael H, Farrar, Claire, Bradbury, Linda A, Danoy, Patrick, Inman, Robert D, Maksymowych, Walter, Gladman, Dafna, Rahman, Proton, Morgan, Ann, Marzo-Ortega, Helena, Bowness, Paul, Gaffney, Karl, Gaston, J S Hill, Smith, Malcolm, Bruges-Armas, Jacome, Couto, Ana-Rita, Sorrentino, Rosa, Paladini, Fabiana, Ferreira, Manuel A, Xu, Huji, Liu, Yu, Jiang, Lei, Lopez-Larrea, Carlos, Díaz-Peña, Roberto, López-Vázquez, Antonio, Zayats, Tetyana, Band, Gavin, Bellenguez, Céline, Blackburn, Hannah, Blackwell, Jenefer M, Bramon, Elvira, Bumpstead, Suzannah J, Casas, Juan P, Corvin, Aiden, Craddock, Nicholas, Deloukas, Panos, Dronov, Serge, Duncanson, Audrey, Edkins, Sarah, Freeman, Colin, Gillman, Matthew, Gray, Emma, Gwilliam, Rhian, Hammond, Naomi, Hunt, Sarah E, Jankowski, Janusz, Jayakumar, Alagurevathi, Langford, Cordelia, Liddle, Jennifer, Markus, Hugh S, Mathew, Christopher G, McCann, Owen T, McCarthy, Mark I, Palmer, Colin N A, Peltonen, Leena, Plomin, Robert, Potter, Simon C, Rautanen, Anna, Ravindrarajah, Radhi, Ricketts, Michelle, Samani, Nilesh, Sawcer, Stephen J, Strange, Amy, Trembath, Richard C, Viswanathan, Ananth C, Waller, Matthew, Weston, Paul, Whittaker, Pamela, Widaa, Sara, Wood, Nicholas W, McVean, Gilean, Reveille, John D, Wordsworth, B Paul, Brown, Matthew A, Donnelly, Peter·2011·Nature Genetics
DOI 10.1038/ng.873
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Abstract

Ankylosing spondylitis is a common form of inflammatory arthritis predominantly affecting the spine and pelvis that occurs in approximately 5 out of 1,000 adults of European descent. Here we report the identification of three variants in the RUNX3, LTBR-TNFRSF1A and IL12B regions convincingly associated with ankylosing spondylitis (P < 5 × 10−8 in the combined discovery and replication datasets) and a further four loci at PTGER4, TBKBP1, ANTXR2 and CARD9 that show strong association across all our datasets (P < 5 × 10−6 overall, with support in each of the three datasets studied). We also show that polymorphisms of ERAP1, which encodes an endoplasmic reticulum aminopeptidase involved in peptide trimming before HLA class I presentation, only affect ankylosing spondylitis risk in HLA-B27–positive individuals. These findings provide strong evidence that HLA-B27 operates in ankylosing spondylitis through a mechanism involving aberrant processing of antigenic peptides.

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Authors
The Australo-Anglo-American Spondyloarthritis Consortium (TASC), Evans, D. M., the Wellcome Trust Case Control Consortium 2 (WTCCC2), Spondyloarthritis Research Consortium of Canada (SPARCC), Spencer, C. C. A., Pointon, J. J., Su, Z., Harvey, D., Kochan, G., Oppermann, U., Dilthey, A., Pirinen, M., Stone, M. A., Appleton, L., Moutsianas, L., Leslie, S., Wordsworth, T., Kenna, T. J., Karaderi, T., Thomas, G. P., Ward, M. M., Weisman, M. H., Farrar, C., Bradbury, L. A., Danoy, P., Inman, R. D., Maksymowych, W., Gladman, D., Rahman, P., Morgan, A., Marzo-Ortega, H., Bowness, P., Gaffney, K., Gaston, J. S. H., Smith, M., Bruges-Armas, J., Couto, A.-R., Sorrentino, R., Paladini, F., Ferreira, M. A., Xu, H., Liu, Y., Jiang, L., Lopez-Larrea, C., Díaz-Peña, R., López-Vázquez, A., Zayats, T., Band, G., Bellenguez, C., Blackburn, H., Blackwell, J. M., Bramon, E., Bumpstead, S. J., Casas, J. P., Corvin, A., Craddock, N., Deloukas, P., Dronov, S., Duncanson, A., Edkins, S., Freeman, C., Gillman, M., Gray, E., Gwilliam, R., Hammond, N., Hunt, S. E., Jankowski, J., Jayakumar, A., Langford, C., Liddle, J., Markus, H. S., Mathew, C. G., McCann, O. T., McCarthy, M. I., Palmer, C. N. A., Peltonen, L., Plomin, R., Potter, S. C., Rautanen, A., Ravindrarajah, R., Ricketts, M., Samani, N., Sawcer, S. J., Strange, A., Trembath, R. C., Viswanathan, A. C., Waller, M., Weston, P., Whittaker, P., Widaa, S., Wood, N. W., McVean, G., Reveille, J. D., Wordsworth, B. P., Brown, M. A., & Donnelly, P.
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
2011-07-10
Volume
43
Issue
8
Pages
761-767
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
DOI
10.1038/ng.873
OpenAlex
W2156459362
Cited by
893
References
45
FWCI
51.43
Type
journal article
Language
en
Open access
bronze

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