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

Vesela Gateva, Johanna K. Sandling, Geoff Hom, Kimberly E. Taylor, Sharon A. Chung, Xin Sun, Ward Ortmann, Roman Kosoy, Ricardo C. Ferreira, Gunnel Nordmark, Iva Gunnarsson, Elisabet Svenungsson, Leonid Padyukov, Gunnar Sturfelt, Andreas Jönsen, Anders A. Bengtsson, Solbritt Rantapää-Dahlqvist, Emily C. Baechler, Elizabeth E. Brown, Graciela S. AlarcónJeffrey C. Edberg, Rosalind Ramsey-Goldman, Gerald McGwin, John D. Reveille, Luis M. Vilá, Robert P. Kimberly, Susan Manzi, Michelle A. Petri, Annette Lee, Peter K. Gregersen, Michael F. Seldin, Lars Rönnblom, Lindsey A. Criswell, Ann Christine Syvänen, Timothy W. Behrens, Robert R. Graham

Research output: Contribution to journalArticle


Genome-wide association studies have recently identified at least 15 susceptibility loci for systemic lupus erythematosus (SLE). To confirm additional risk loci, we selected SNPs from 2,466 regions that showed nominal evidence of association to SLE (P 0.05) in a genome-wide study and genotyped them in an independent sample of 1,963 cases and 4,329 controls. This replication effort identified five new SLE susceptibility loci (P 5 × 10 8): TNIP1 (odds ratio (OR) = 1.27), PRDM1 (OR = 1.20), JAZF1 (OR = 1.20), UHRF1BP1 (OR = 1.17) and IL10 (OR = 1.19). We identified 21 additional candidate loci with P 1 × 10 5. A candidate screen of alleles previously associated with other autoimmune diseases suggested five loci (P 1 × 10 3) that may contribute to SLE: IFIH1, CFB, CLEC16A, IL12B and SH2B3. These results expand the number of confirmed and candidate SLE susceptibility loci and implicate several key immunologic pathways in SLE pathogenesis.

Original languageEnglish (US)
Pages (from-to)1228-1233
Number of pages6
JournalNature genetics
Issue number11
StatePublished - Nov 1 2009


ASJC Scopus subject areas

  • Genetics

Cite this

Gateva, V., Sandling, J. K., Hom, G., Taylor, K. E., Chung, S. A., Sun, X., Ortmann, W., Kosoy, R., Ferreira, R. C., Nordmark, G., Gunnarsson, I., Svenungsson, E., Padyukov, L., Sturfelt, G., Jönsen, A., Bengtsson, A. A., Rantapää-Dahlqvist, S., Baechler, E. C., Brown, E. E., ... Graham, R. R. (2009). A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Nature genetics, 41(11), 1228-1233. https://doi.org/10.1038/ng.468