The DOI matches its Crossref record; 26 of the 26 references it cites were found in a registry or an index.
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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Cited by
Han, J.-W., Zheng, H.-F., Cui, Y., Sun, L.-D., Ye, D.-Q., Hu, Z., Xu, J.-H., Cai, Z.-M., Huang, W., Zhao, G.-P., et al. (2009) · Nature Genetics · doi:10.1038/ng.472 · Cited by 936
A HapMap harvest of insights into the genetics of common disease
Manolio, T. A., Brooks, L. D., & Collins, F. S. (2008) · Journal of Clinical Investigation · doi:10.1172/jci34772 · Cited by 889
Detecting shared pathogenesis from the shared genetics of immune-related diseases
Zhernakova, A., van Diemen, C. C., & Wijmenga, C. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2489 · Cited by 551
Genetic susceptibility to systemic lupus erythematosus in the genomic era
Deng, Y., & Tsao, B. P. (2010) · Nature Reviews Rheumatology · doi:10.1038/nrrheum.2010.176 · Cited by 379
Genetics and pathogenesis of systemic lupus erythematosus and lupus nephritis
Mohan, C., & Putterman, C. (2015) · Nature Reviews Nephrology · doi:10.1038/nrneph.2015.33 · Cited by 377
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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- 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., . . . Alarcón-Riquelme, M. E. (2008). Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. Nature Genetics. https://doi.org/10.1038/ng.79
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