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Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus
Open accessAbstract
Systemic lupus erythematosus (SLE) is a prototypical autoimmune disease characterized by production of autoantibodies and complex genetic inheritance. In a genome-wide scan using 85,042 SNPs, we identified an association between SLE and a nonsynonymous substitution (rs10516487, R61H) in the B-cell scaffold protein with ankyrin repeats gene, BANK1. We replicated the association in four independent case-control sets (combined P = 3.7 × 10−10; OR = 1.38). We analyzed BANK1 cDNA and found two isoforms, one full-length and the other alternatively spliced and lacking exon 2 (Δ2), encoding a protein without a putative IP3R-binding domain. The transcripts were differentially expressed depending on a branch point–site SNP, rs17266594, in strong linkage disequilibrium (LD) with rs10516487. A third associated variant was found in the ankyrin domain (rs3733197, A383T). Our findings implicate BANK1 as a susceptibility gene for SLE, with variants affecting regulatory sites and key functional domains. The disease-associated variants could contribute to sustained B cell–receptor signaling and B-cell hyperactivity characteristic of this disease.
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Metadata
- Authors
- Kozyrev, S. V., Abelson, A.-K., Wojcik, J., Zaghlool, A., Linga Reddy, M. V. P., Sanchez, E., Gunnarsson, I., Svenungsson, E., Sturfelt, G., Jönsen, A., Truedsson, L., Pons-Estel, B. A., Witte, T., D'Alfonso, S., Barizzone, N., Danieli, M. G., Gutierrez, C., Suarez, A., Junker, P., Laustrup, H., González-Escribano, M. F., Martin, J., Abderrahim, H., & Alarcón-Riquelme, M. E.
- Venue
- Nature Genetics
- Published
- 2008-01-20
- Volume
- 40
- Issue
- 2
- Pages
- 211-216
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2082829053
- Cited by
- 477
- References
- 26
- FWCI
- 37.68
- Type
- journal article
- Language
- en
- Open access
- green
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