A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus (original) (raw)

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Acknowledgements

We thank the many affected individuals and physicians who contributed DNA samples and clinical data for this study; M.I. Kamboh and P. Davies for the use of Alzheimer's disease samples as controls in our study; B. Neale for assistance in the percent of genetic variance explained calculation; and S. Sanna and C. Willer for assistance in generating regional association plots. Genotyping of the Swedish samples by the 12K chips was performed using equipment of the SNP technology platform in Uppsala. We thank C. Enström and A.-C. Wiman for assistance with genotyping. Financial support was obtained from the Swedish Research Council for Medicine, the Knut and Alice Wallenberg Foundation the Swedish Rheumatism Association, the King Gustaf V 80th Birthday Foundation, COMBINE, and a Target Identification in Lupus (TIL) grant from the Alliance for Lupus Research, US. This work was supported in part by R01 AR44804, K24 AR02175, the Mary Kirkland Center for Lupus Research, RO1 AR43727 and Institute for Clinical and Translational Research UL1RR025005. These studies were performed in part in the General Clinical Research Center, Moffitt Hospital, University of California, San Francisco, with funds provided by the National Center for Research Resources, 5 M01 RR-00079, US Public Health Service.

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Authors and Affiliations

1. Immunology Biomarkers Group, Genentech, South San Francisco, California, USA
   Vesela Gateva, Geoff Hom, Xin Sun, Ward Ortmann, Ricardo C Ferreira, Timothy W Behrens & Robert R Graham
2. Department of Medical Sciences, Molecular Medicine, Uppsala University, Uppsala, Sweden
   Johanna K Sandling & Ann-Christine Syvänen
3. Department of Medicine, Rosalind Russell Medical Research Center for Arthritis, University of California, San Francisco, California, USA
   Kimberly E Taylor, Sharon A Chung & Lindsey A Criswell
4. Rowe Program in Genetics, University of California at Davis, Davis, California, USA
   Roman Kosoy & Michael F Seldin
5. Department of Medical Sciences, Section of Rheumatology, Uppsala University, Uppsala, Sweden
   Gunnel Nordmark & Lars Rönnblom
6. Department of Medicine, Rheumatology Unit, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
   Iva Gunnarsson, Elisabet Svenungsson & Leonid Padyukov
7. Department of Clinical Sciences, Section of Rheumatology, Lund University Hospital, Lund, Sweden
   Gunnar Sturfelt, Andreas Jönsen & Anders A Bengtsson
8. Department of Rheumatology, Umeå University Hospital, Umeå, Sweden
   Solbritt Rantapää-Dahlqvist
9. Center for Immunology, University of Minnesota Medical School, Minneapolis, Minnesota, USA
   Emily C Baechler
10. University of Alabama at Birmingham, Birmingham, Alabama, USA
    Elizabeth E Brown, Graciela S Alarcón, Jeffrey C Edberg, Gerald McGwin Jr & Robert P Kimberly
11. Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA
    Rosalind Ramsey-Goldman
12. University of Texas–Houston Health Science Center, Houston, Texas, USA
    John D Reveille
13. University of Puerto Rico Medical Science Campus, San Juan, Puerto Rico
    Luis M Vilá
14. University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA
    Susan Manzi
15. Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Michelle A Petri
16. The Feinstein Institute for Medical Research, North Shore–Long Island Jewish Health System, Manhasset, New York, USA
    Annette Lee & Peter K Gregersen

Authors

1. Vesela Gateva
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2. Johanna K Sandling
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3. Geoff Hom
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4. Kimberly E Taylor
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5. Sharon A Chung
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6. Xin Sun
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7. Ward Ortmann
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8. Roman Kosoy
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9. Ricardo C Ferreira
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10. Gunnel Nordmark
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11. Elisabet Svenungsson
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12. Leonid Padyukov
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13. Gunnar Sturfelt
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14. Andreas Jönsen
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15. Anders A Bengtsson
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16. Solbritt Rantapää-Dahlqvist
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17. Emily C Baechler
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18. Elizabeth E Brown
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19. Graciela S Alarcón
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20. Jeffrey C Edberg
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21. Rosalind Ramsey-Goldman
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22. Gerald McGwin Jr
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23. John D Reveille
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24. Luis M Vilá
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25. Robert P Kimberly
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26. Susan Manzi
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27. Michelle A Petri
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28. Annette Lee
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29. Peter K Gregersen
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30. Michael F Seldin
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31. Lars Rönnblom
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32. Lindsey A Criswell
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33. Ann-Christine Syvänen
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34. Timothy W Behrens
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35. Robert R Graham
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Contributions

V.G. and J.K.S. performed the primary statistical analyses and contributed to initial manuscript preparation; J.K.S managed DNA samples and performed genotyping. G.H. contributed to the statistical analyses and experimental design. K.E.T. and S.A.C. performed statistical analyses and contributed to manuscript preparation. X.S., W.O. and R.C.F. managed DNA samples and contributed to experimental design. G.N., I.G., E.S., L.P., G.S., A.J., A.A.B., S.R.-D., E.C.B, E.E.B., G.S.A., J.C.E., R.R.-G., G.M. Jr., J.D.R., L.M.V., R.P.K., S.M. and M.A.P. provided samples and phenotype information. A.L. managed samples and oversaw genotyping efforts. P.K.G. provided samples and contributed to the initial manuscript preparation. M.F.S. and R.K. contributed statistical analyses and contributed to the selection of the ancestry-informative markers. L.R., L.A.C. and A.-C.S. contributed samples, input into experimental design, data interpretation and initial manuscript preparation; A.-C.S. oversaw genotyping efforts. R.R.G. and T.W.B. contributed to experimental design and interpretation, statistical analyses and initial manuscript preparation. All authors contributed to the final paper.

Corresponding author

Correspondence toRobert R Graham.

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Competing interests

The authors Robert R Graham, Timothy W Behrens, Geoff Hom, Vesela Gateva, Xin Sun, Ward Ortmann and Ricardo C Ferreira were fulltime employees of Genentech, Inc at the time of the work. Robert R Graham and Timothy W Behrens have applied for a patent based on this work.

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Gateva, V., Sandling, J., Hom, G. et al. A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.Nat Genet 41, 1228–1233 (2009). https://doi.org/10.1038/ng.468

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• Received: 17 June 2009
• Accepted: 18 September 2009
• Published: 18 October 2009
• Issue Date: November 2009
• DOI: https://doi.org/10.1038/ng.468