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A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus
Open accessAbstract
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.
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Principal components analysis corrects for stratification in genome-wide association studies
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TRAF1–C5 as a Risk Locus for Rheumatoid Arthritis — A Genomewide Study
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Self-citationDetecting shared pathogenesis from the shared genetics of immune-related diseases
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Self-citationAttar, E., Tokunaga, H., Imir, G., Yilmaz, M. B., Redwine, D., Putman, M., Gurates, B., Attar, R., Yaegashi, N., Hales, D. B., et al. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-1180 · Cited by 207
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Metadata
- Authors
- 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., Alarcón, G. S., Edberg, J. C., Ramsey-Goldman, R., McGwin, G., Reveille, J. D., Vilá, L. M., Kimberly, R. P., Manzi, S., Petri, M. A., Lee, A., Gregersen, P. K., Seldin, M. F., Rönnblom, L., Criswell, L. A., Syvänen, A.-C., Behrens, T. W., & Graham, R. R.
- Venue
- Nature Genetics
- Published
- 2009-10-18
- Volume
- 41
- Issue
- 11
- Pages
- 1228-1233
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2147086116
- Cited by
- 810
- References
- 8
- FWCI
- 47.14
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. https://app.cochat.ai/papers/10.1038/ng.468
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- 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. https://doi.org/10.1038/ng.468
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
