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Cited by 351

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Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk

Open access
BIRAC Consortium, Raychaudhuri, Soumya, YEAR Consortium, Thomson, Brian P, Remmers, Elaine F, Eyre, Stephen, Hinks, Anne, Guiducci, Candace, Catanese, Joseph J, Xie, Gang, Stahl, Eli A, Chen, Robert, Alfredsson, Lars, Amos, Christopher I, Ardlie, Kristin G, Barton, Anne, Bowes, John, Burtt, Noel P, Chang, Monica, Coblyn, Jonathan, Costenbader, Karen H, Criswell, Lindsey A, Crusius, J Bart A, Cui, Jing, De Jager, Phillip L, Ding, Bo, Emery, Paul, Flynn, Edward, Harrison, Pille, Hocking, Lynne J, Huizinga, Tom W J, Kastner, Daniel L, Ke, Xiayi, Kurreeman, Fina A S, Lee, Annette T, Liu, Xiangdong, Li, Yonghong, Martin, Paul, Morgan, Ann W, Padyukov, Leonid, Reid, David M, Seielstad, Mark, Seldin, Michael F, Shadick, Nancy A, Steer, Sophia, Tak, Paul P, Thomson, Wendy, van der Helm-van Mil, Annette H M, van der Horst-Bruinsma, Irene E, Weinblatt, Michael E, Wilson, Anthony G, Wolbink, Gert Jan, Wordsworth, Paul, Altshuler, David, Karlson, Elizabeth W, Toes, Rene E M, de Vries, Niek, Begovich, Ann B, Siminovitch, Katherine A, Worthington, Jane, Klareskog, Lars, Gregersen, Peter K, Daly, Mark J, Plenge, Robert M·2009·Nature Genetics

Abstract

To discover new rheumatoid arthritis (RA) risk loci, we systematically examined 370 SNPs from 179 independent loci with P < 0.001 in a published meta-analysis of RA genome-wide association studies (GWAS) of 3,393 cases and 12,462 controls. We used Gene Relationships Across Implicated Loci (GRAIL), a computational method that applies statistical text mining to PubMed abstracts, to score these 179 loci for functional relationships to genes in 16 established RA disease loci. We identified 22 loci with a significant degree of functional connectivity. We genotyped 22 representative SNPs in an independent set of 7,957 cases and 11,958 matched controls. Three were convincingly validated: CD2-CD58 (rs11586238, P = 1 × 10−6 replication, P = 1 × 10−9 overall), CD28 (rs1980422, P = 5 × 10−6 replication, P = 1 × 10−9 overall) and PRDM1 (rs548234, P = 1 × 10−5 replication, P = 2 × 10−8 overall). An additional four were replicated (P < 0.0023): TAGAP (rs394581, P = 0.0002 replication, P = 4 × 10−7 overall), PTPRC (rs10919563, P = 0.0003 replication, P = 7 × 10−7 overall), TRAF6-RAG1 (rs540386, P = 0.0008 replication, P = 4 × 10−6 overall) and FCGR2A (rs12746613, P = 0.0022 replication, P = 2 × 10−5 overall). Many of these loci are also associated to other immunologic diseases.

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Metadata

Authors
BIRAC Consortium, Raychaudhuri, S., YEAR Consortium, Thomson, B. P., Remmers, E. F., Eyre, S., Hinks, A., Guiducci, C., Catanese, J. J., Xie, G., Stahl, E. A., Chen, R., Alfredsson, L., Amos, C. I., Ardlie, K. G., Barton, A., Bowes, J., Burtt, N. P., Chang, M., Coblyn, J., Costenbader, K. H., Criswell, L. A., Crusius, J. B. A., Cui, J., De Jager, P. L., Ding, B., Emery, P., Flynn, E., Harrison, P., Hocking, L. J., Huizinga, T. W. J., Kastner, D. L., Ke, X., Kurreeman, F. A. S., Lee, A. T., Liu, X., Li, Y., Martin, P., Morgan, A. W., Padyukov, L., Reid, D. M., Seielstad, M., Seldin, M. F., Shadick, N. A., Steer, S., Tak, P. P., Thomson, W., van der Helm-van Mil, A. H. M., van der Horst-Bruinsma, I. E., Weinblatt, M. E., Wilson, A. G., Wolbink, G. J., Wordsworth, P., Altshuler, D., Karlson, E. W., Toes, R. E. M., de Vries, N., Begovich, A. B., Siminovitch, K. A., Worthington, J., Klareskog, L., Gregersen, P. K., Daly, M. J., & Plenge, R. M.
Venue
Nature Genetics
Published
2009-11-08
Volume
41
Issue
12
Pages
1313-1318
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
OpenAlex
W2130979463
Cited by
351
References
8
FWCI
23.88
Type
journal article
Language
en
Open access
green

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CoChat. (2026). Citation check: Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. https://app.cochat.ai/papers/10.1038/ng.479
The paper
BIRAC Consortium, Raychaudhuri, S., YEAR Consortium, Thomson, B. P., Remmers, E. F., Eyre, S., Hinks, A., Guiducci, C., Catanese, J. J., Xie, G., Stahl, E. A., Chen, R., Alfredsson, L., Amos, C. I., Ardlie, K. G., Barton, A., Bowes, J., Burtt, N. P., Chang, M., . . . Plenge, R. M. (2009). Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. Nature Genetics. https://doi.org/10.1038/ng.479

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

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