Common variants at CD40 and other loci confer risk of rheumatoid arthritis

Soumya Raychaudhuri; Elaine F. Remmers; Annette T. Lee; Rachel Hackett; Candace Guiducci; Noël P. Burtt; Lauren Gianniny; Benjamin D. Korman; Leonid Padyukov; Fina A.S. Kurreeman; Monica Chang; Joseph J. Catanese; Bo Ding; Sandra Wong; Annette H.M. Van Der Helm-Van Mil; Benjamin M. Neale; Jonathan Coblyn; Jing Cui; Paul P. Tak; Gert Jan Wolbink; J. Bart A. Crusius; Irene E.Van Der Horst-Bruinsma; Lindsey A. Criswell; Christopher I. Amos; Michael F. Seldin; Daniel L. Kastner; Kristin G. Ardlie; Lars Alfredsson; Karen H. Costenbader; David Altshuler; Tom W.J. Huizinga; Nancy A. Shadick; Michael E. Weinblatt; Niek De Vries; Jane Worthington; Mark Seielstad; Rene E.M. Toes; Elizabeth W. Karlson; Ann B. Begovich; Lars Klareskog; Peter K. Gregersen; Mark J. Daly; Robert M. Plenge

doi:10.1038/ng.233

Common variants at CD40 and other loci confer risk of rheumatoid arthritis

Soumya Raychaudhuri, Elaine F. Remmers, Annette T. Lee, Rachel Hackett, Candace Guiducci, Noël P. Burtt, Lauren Gianniny, Benjamin D. Korman, Leonid Padyukov, Fina A.S. Kurreeman, Monica Chang, Joseph J. Catanese, Bo Ding, Sandra Wong, Annette H.M. Van Der Helm-Van Mil, Benjamin M. Neale, Jonathan Coblyn, Jing Cui, Paul P. Tak, Gert Jan WolbinkJ. Bart A. Crusius, Irene E.Van Der Horst-Bruinsma, Lindsey A. Criswell, Christopher I. Amos, Michael F. Seldin, Daniel L. Kastner, Kristin G. Ardlie, Lars Alfredsson, Karen H. Costenbader, David Altshuler, Tom W.J. Huizinga, Nancy A. Shadick, Michael E. Weinblatt, Niek De Vries, Jane Worthington, Mark Seielstad, Rene E.M. Toes, Elizabeth W. Karlson, Ann B. Begovich, Lars Klareskog, Peter K. Gregersen, Mark J. Daly, Robert M. Plenge

Medicine, Rheumatology Division

Research output: Contribution to journal › Article

402 Scopus citations

Abstract

To identify rheumatoid arthritis risk loci in European populations, we conducted a meta-analysis of two published genome-wide association (GWA) studies totaling 3,393 cases and 12,462 controls. We genotyped 31 top-ranked SNPs not previously associated with rheumatoid arthritis in an independent replication of 3,929 autoantibody-positive rheumatoid arthritis cases and 5,807 matched controls from eight separate collections. We identified a common variant at the CD40 gene locus (rs4810485, P = 0.0032 replication, P = 8.2 × 10 ^-9 overall, OR = 0.87). Along with other associations near TRAF1 (refs. 2,3) and TNFAIP3 (refs. 4,5), this implies a central role for the CD40 signaling pathway in rheumatoid arthritis pathogenesis. We also identified association at the CCL21 gene locus (rs2812378, P = 0.00097 replication, P = 2.8 × 10^-7 overall), a gene involved in lymphocyte trafficking. Finally, we identified evidence of association at four additional gene loci: MMEL1-TNFRSF14 (rs3890745, P = 0.0035 replication, P = 1.1 × 10 ^-7 overall), CDK6 (rs42041, P = 0.010 replication, P = 4.0 × 10^-6 overall), PRKCQ (rs4750316, P = 0.0078 replication, P = 4.4 × 10^-6 overall), and KIF5A-PIP4K2C (rs1678542, P = 0.0026 replication, P = 8.8 × 10^-8 overall).

Original language	English (US)
Pages (from-to)	1216-1223
Number of pages	8
Journal	Nature Genetics
Volume	40
Issue number	10
DOIs	https://doi.org/10.1038/ng.233
State	Published - Oct 2008

ASJC Scopus subject areas

Genetics

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Raychaudhuri, S., Remmers, E. F., Lee, A. T., Hackett, R., Guiducci, C., Burtt, N. P., Gianniny, L., Korman, B. D., Padyukov, L., Kurreeman, F. A. S., Chang, M., Catanese, J. J., Ding, B., Wong, S., Van Der Helm-Van Mil, A. H. M., Neale, B. M., Coblyn, J., Cui, J., Tak, P. P., ... Plenge, R. M. (2008). Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Nature Genetics, 40(10), 1216-1223. https://doi.org/10.1038/ng.233

Raychaudhuri, Soumya ; Remmers, Elaine F. ; Lee, Annette T. ; Hackett, Rachel ; Guiducci, Candace ; Burtt, Noël P. ; Gianniny, Lauren ; Korman, Benjamin D. ; Padyukov, Leonid ; Kurreeman, Fina A.S. ; Chang, Monica ; Catanese, Joseph J. ; Ding, Bo ; Wong, Sandra ; Van Der Helm-Van Mil, Annette H.M. ; Neale, Benjamin M. ; Coblyn, Jonathan ; Cui, Jing ; Tak, Paul P. ; Wolbink, Gert Jan ; Crusius, J. Bart A. ; Horst-Bruinsma, Irene E.Van Der ; Criswell, Lindsey A. ; Amos, Christopher I. ; Seldin, Michael F. ; Kastner, Daniel L. ; Ardlie, Kristin G. ; Alfredsson, Lars ; Costenbader, Karen H. ; Altshuler, David ; Huizinga, Tom W.J. ; Shadick, Nancy A. ; Weinblatt, Michael E. ; De Vries, Niek ; Worthington, Jane ; Seielstad, Mark ; Toes, Rene E.M. ; Karlson, Elizabeth W. ; Begovich, Ann B. ; Klareskog, Lars ; Gregersen, Peter K. ; Daly, Mark J. ; Plenge, Robert M. / Common variants at CD40 and other loci confer risk of rheumatoid arthritis. In: Nature Genetics. 2008 ; Vol. 40, No. 10. pp. 1216-1223.

@article{6d304ba394b84ff58b3612814e253081,

title = "Common variants at CD40 and other loci confer risk of rheumatoid arthritis",

abstract = "To identify rheumatoid arthritis risk loci in European populations, we conducted a meta-analysis of two published genome-wide association (GWA) studies totaling 3,393 cases and 12,462 controls. We genotyped 31 top-ranked SNPs not previously associated with rheumatoid arthritis in an independent replication of 3,929 autoantibody-positive rheumatoid arthritis cases and 5,807 matched controls from eight separate collections. We identified a common variant at the CD40 gene locus (rs4810485, P = 0.0032 replication, P = 8.2 × 10 -9 overall, OR = 0.87). Along with other associations near TRAF1 (refs. 2,3) and TNFAIP3 (refs. 4,5), this implies a central role for the CD40 signaling pathway in rheumatoid arthritis pathogenesis. We also identified association at the CCL21 gene locus (rs2812378, P = 0.00097 replication, P = 2.8 × 10-7 overall), a gene involved in lymphocyte trafficking. Finally, we identified evidence of association at four additional gene loci: MMEL1-TNFRSF14 (rs3890745, P = 0.0035 replication, P = 1.1 × 10 -7 overall), CDK6 (rs42041, P = 0.010 replication, P = 4.0 × 10-6 overall), PRKCQ (rs4750316, P = 0.0078 replication, P = 4.4 × 10-6 overall), and KIF5A-PIP4K2C (rs1678542, P = 0.0026 replication, P = 8.8 × 10-8 overall).",

author = "Soumya Raychaudhuri and Remmers, {Elaine F.} and Lee, {Annette T.} and Rachel Hackett and Candace Guiducci and Burtt, {No{\"e}l P.} and Lauren Gianniny and Korman, {Benjamin D.} and Leonid Padyukov and Kurreeman, {Fina A.S.} and Monica Chang and Catanese, {Joseph J.} and Bo Ding and Sandra Wong and {Van Der Helm-Van Mil}, {Annette H.M.} and Neale, {Benjamin M.} and Jonathan Coblyn and Jing Cui and Tak, {Paul P.} and Wolbink, {Gert Jan} and Crusius, {J. Bart A.} and Horst-Bruinsma, {Irene E.Van Der} and Criswell, {Lindsey A.} and Amos, {Christopher I.} and Seldin, {Michael F.} and Kastner, {Daniel L.} and Ardlie, {Kristin G.} and Lars Alfredsson and Costenbader, {Karen H.} and David Altshuler and Huizinga, {Tom W.J.} and Shadick, {Nancy A.} and Weinblatt, {Michael E.} and {De Vries}, Niek and Jane Worthington and Mark Seielstad and Toes, {Rene E.M.} and Karlson, {Elizabeth W.} and Begovich, {Ann B.} and Lars Klareskog and Gregersen, {Peter K.} and Daly, {Mark J.} and Plenge, {Robert M.}",

year = "2008",

month = oct,

doi = "10.1038/ng.233",

language = "English (US)",

volume = "40",

pages = "1216--1223",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "10",

}

Raychaudhuri, S, Remmers, EF, Lee, AT, Hackett, R, Guiducci, C, Burtt, NP, Gianniny, L, Korman, BD, Padyukov, L, Kurreeman, FAS, Chang, M, Catanese, JJ, Ding, B, Wong, S, Van Der Helm-Van Mil, AHM, Neale, BM, Coblyn, J, Cui, J, Tak, PP, Wolbink, GJ, Crusius, JBA, Horst-Bruinsma, IEVD, Criswell, LA, Amos, CI, Seldin, MF, Kastner, DL, Ardlie, KG, Alfredsson, L, Costenbader, KH, Altshuler, D, Huizinga, TWJ, Shadick, NA, Weinblatt, ME, De Vries, N, Worthington, J, Seielstad, M, Toes, REM, Karlson, EW, Begovich, AB, Klareskog, L, Gregersen, PK, Daly, MJ & Plenge, RM 2008, 'Common variants at CD40 and other loci confer risk of rheumatoid arthritis', Nature Genetics, vol. 40, no. 10, pp. 1216-1223. https://doi.org/10.1038/ng.233

Common variants at CD40 and other loci confer risk of rheumatoid arthritis. / Raychaudhuri, Soumya; Remmers, Elaine F.; Lee, Annette T.; Hackett, Rachel; Guiducci, Candace; Burtt, Noël P.; Gianniny, Lauren; Korman, Benjamin D.; Padyukov, Leonid; Kurreeman, Fina A.S.; Chang, Monica; Catanese, Joseph J.; Ding, Bo; Wong, Sandra; Van Der Helm-Van Mil, Annette H.M.; Neale, Benjamin M.; Coblyn, Jonathan; Cui, Jing; Tak, Paul P.; Wolbink, Gert Jan; Crusius, J. Bart A.; Horst-Bruinsma, Irene E.Van Der; Criswell, Lindsey A.; Amos, Christopher I.; Seldin, Michael F.; Kastner, Daniel L.; Ardlie, Kristin G.; Alfredsson, Lars; Costenbader, Karen H.; Altshuler, David; Huizinga, Tom W.J.; Shadick, Nancy A.; Weinblatt, Michael E.; De Vries, Niek; Worthington, Jane; Seielstad, Mark; Toes, Rene E.M.; Karlson, Elizabeth W.; Begovich, Ann B.; Klareskog, Lars; Gregersen, Peter K.; Daly, Mark J.; Plenge, Robert M.

In: Nature Genetics, Vol. 40, No. 10, 10.2008, p. 1216-1223.

Research output: Contribution to journal › Article

TY - JOUR

T1 - Common variants at CD40 and other loci confer risk of rheumatoid arthritis

AU - Raychaudhuri, Soumya

AU - Remmers, Elaine F.

AU - Lee, Annette T.

AU - Hackett, Rachel

AU - Guiducci, Candace

AU - Burtt, Noël P.

AU - Gianniny, Lauren

AU - Korman, Benjamin D.

AU - Padyukov, Leonid

AU - Kurreeman, Fina A.S.

AU - Chang, Monica

AU - Catanese, Joseph J.

AU - Ding, Bo

AU - Wong, Sandra

AU - Van Der Helm-Van Mil, Annette H.M.

AU - Neale, Benjamin M.

AU - Coblyn, Jonathan

AU - Cui, Jing

AU - Tak, Paul P.

AU - Wolbink, Gert Jan

AU - Crusius, J. Bart A.

AU - Horst-Bruinsma, Irene E.Van Der

AU - Criswell, Lindsey A.

AU - Amos, Christopher I.

AU - Seldin, Michael F.

AU - Kastner, Daniel L.

AU - Ardlie, Kristin G.

AU - Alfredsson, Lars

AU - Costenbader, Karen H.

AU - Altshuler, David

AU - Huizinga, Tom W.J.

AU - Shadick, Nancy A.

AU - Weinblatt, Michael E.

AU - De Vries, Niek

AU - Worthington, Jane

AU - Seielstad, Mark

AU - Toes, Rene E.M.

AU - Karlson, Elizabeth W.

AU - Begovich, Ann B.

AU - Klareskog, Lars

AU - Gregersen, Peter K.

AU - Daly, Mark J.

AU - Plenge, Robert M.

PY - 2008/10

Y1 - 2008/10

N2 - To identify rheumatoid arthritis risk loci in European populations, we conducted a meta-analysis of two published genome-wide association (GWA) studies totaling 3,393 cases and 12,462 controls. We genotyped 31 top-ranked SNPs not previously associated with rheumatoid arthritis in an independent replication of 3,929 autoantibody-positive rheumatoid arthritis cases and 5,807 matched controls from eight separate collections. We identified a common variant at the CD40 gene locus (rs4810485, P = 0.0032 replication, P = 8.2 × 10 -9 overall, OR = 0.87). Along with other associations near TRAF1 (refs. 2,3) and TNFAIP3 (refs. 4,5), this implies a central role for the CD40 signaling pathway in rheumatoid arthritis pathogenesis. We also identified association at the CCL21 gene locus (rs2812378, P = 0.00097 replication, P = 2.8 × 10-7 overall), a gene involved in lymphocyte trafficking. Finally, we identified evidence of association at four additional gene loci: MMEL1-TNFRSF14 (rs3890745, P = 0.0035 replication, P = 1.1 × 10 -7 overall), CDK6 (rs42041, P = 0.010 replication, P = 4.0 × 10-6 overall), PRKCQ (rs4750316, P = 0.0078 replication, P = 4.4 × 10-6 overall), and KIF5A-PIP4K2C (rs1678542, P = 0.0026 replication, P = 8.8 × 10-8 overall).

AB - To identify rheumatoid arthritis risk loci in European populations, we conducted a meta-analysis of two published genome-wide association (GWA) studies totaling 3,393 cases and 12,462 controls. We genotyped 31 top-ranked SNPs not previously associated with rheumatoid arthritis in an independent replication of 3,929 autoantibody-positive rheumatoid arthritis cases and 5,807 matched controls from eight separate collections. We identified a common variant at the CD40 gene locus (rs4810485, P = 0.0032 replication, P = 8.2 × 10 -9 overall, OR = 0.87). Along with other associations near TRAF1 (refs. 2,3) and TNFAIP3 (refs. 4,5), this implies a central role for the CD40 signaling pathway in rheumatoid arthritis pathogenesis. We also identified association at the CCL21 gene locus (rs2812378, P = 0.00097 replication, P = 2.8 × 10-7 overall), a gene involved in lymphocyte trafficking. Finally, we identified evidence of association at four additional gene loci: MMEL1-TNFRSF14 (rs3890745, P = 0.0035 replication, P = 1.1 × 10 -7 overall), CDK6 (rs42041, P = 0.010 replication, P = 4.0 × 10-6 overall), PRKCQ (rs4750316, P = 0.0078 replication, P = 4.4 × 10-6 overall), and KIF5A-PIP4K2C (rs1678542, P = 0.0026 replication, P = 8.8 × 10-8 overall).

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