onr:"swepub:oai:DiVA.org:uu-122926"
Search: onr:"swepub:oai:DiVA.org:uu-122926" > Complement receptor...
- 1 of 1
- Previous record
- Next record
- To hitlist
Complement receptor 2 polymorphisms associated with systemic lupus erythematosus modulate alternative splicing
- Douglas, K. B. (author)
- Windels, D. C. (author)
- Zhao, J. (author)
- show more...
- Gadeliya, A. V. (author)
- Wu, H. (author)
- Kaufman, K. M. (author)
- Harley, J. B. (author)
- Merrill, J. (author)
- Kimberly, R. P. (author)
- Alarcón, G. S. (author)
- Brown, E. E. (author)
- Edberg, J. C. (author)
- Ramsey-Goldman, R. (author)
- Petri, M. (author)
- Reveille, J. D. (author)
- Vilá, L. M. (author)
- Gaffney, P. M. (author)
- James, J. A. (author)
- Moser, K. L. (author)
- Vyse, T .J. (author)
- Gilkeson, G. S. (author)
- Jacob, C. O. (author)
- Ziegler, J. T. (author)
- Langefeld, C. D. (author)
- Ulgiati, D. (author)
- Tsao, B. P. (author)
- Boackle, Susan A. (author)
- show less...
- (creator_code:org_t)
- 2009-04-23
- 2009
- English.
- In: Genes and Immunity. - : Springer Science and Business Media LLC. - 1466-4879 .- 1476-5470. ; 10:5, s. 457-469
- Journal article (peer-reviewed)
Abstract
Subject headings
Close
- Genetic factors influence susceptibility to systemic lupus erythematosus (SLE). A recent family-based analysis in Caucasian and Chinese populations provided evidence for association of single-nucleotide polymorphisms (SNPs) in the complement receptor 2 (CR2/CD21) gene with SLE. Here we confirmed this result in a case-control analysis of an independent European-derived population including 2084 patients with SLE and 2853 healthy controls. A haplotype formed by the minor alleles of three CR2 SNPs (rs1048971, rs17615, rs4308977) showed significant association with decreased risk of SLE (30.4% in cases vs 32.6% in controls, P=0.016, OR=0.90 (0.82-0.98)). Two of these SNPs are in exon 10, directly 5' of an alternatively spliced exon preferentially expressed in follicular dendritic cells (FDC), and the third is in the alternatively spliced exon. Effects of these SNPs and a fourth SNP in exon 11 (rs17616) on alternative splicing were evaluated. We found that the minor alleles of these SNPs decreased splicing efficiency of exon 11 both in vitro and ex vivo. These findings further implicate CR2 in the pathogenesis of SLE and suggest that CR2 variants alter the maintenance of tolerance and autoantibody production in the secondary lymphoid tissues where B cells and FDCs interact.
Keyword
- alternative splicing
- systemic lupus erythematosus
- complement receptors
- single-nucleotide polymorphisms
- B cells
- follicular dendritic cells
- MEDICINE
- MEDICIN
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
- Genes and Immunity (Search for host publication in LIBRIS)
To the university's database
- 1 of 1
- Previous record
- Next record
- To hitlist
Find more in SwePub
- By the author/editor
- Douglas, K. B.
- Windels, D. C.
- Zhao, J.
- Gadeliya, A. V.
- Wu, H.
- Kaufman, K. M.
- show more...
- Harley, J. B.
- Merrill, J.
- Kimberly, R. P.
- Alarcón, G. S.
- Brown, E. E.
- Edberg, J. C.
- Ramsey-Goldman, ...
- Petri, M.
- Reveille, J. D.
- Vilá, L. M.
- Gaffney, P. M.
- James, J. A.
- Moser, K. L.
- Alarcón-Riquelme ...
- Vyse, T .J.
- Gilkeson, G. S.
- Jacob, C. O.
- Ziegler, J. T.
- Langefeld, C. D.
- Ulgiati, D.
- Tsao, B. P.
- Boackle, Susan A ...
- show less...
- Articles in the publication
- Genes and Immuni ...
- By the university
- Uppsala University
Search outside SwePub
- Extend your search to:
- Google Book Search
- Google Scholar
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
- Copyright © LIBRIS - National Library Systems
- LIBRIS.kb.se
