Sequence Analysis of TNFRSF13b , Encoding TACI, in Patients with Systemic Lupus Erythematosus
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- 作者：Ulrich Salzer ; Jennifer Birmelin ; Chiara Bacchelli ; Torsten Witte ; Ulrike Buchegger-Podbielski ; Sylvie Buckridge ; Rita Rzepka ; H. Bobby Gaspar ; Adrian J. Thrasher and Reinhold E. Schmidt ; et al.
- 关键词：KEY WORDS Systemic lupus erythematosus (SLE) ; Transmembrane activator and CAML interactor (TACI) ; Candidate gene ; Genetics
- 刊名：Journal of Clinical Immunology
- 出版年：2007
- 出版时间：July, 2007
- 年：2007
- 卷：27
- 期：4
- 页码：372-377
- 全文大小：280 KB
- 刊物类别：Biomedical and Life Sciences
- 刊物主题：Biomedicine
Immunology
Infectious Diseases
Internal Medicine
Medical Microbiology - 出版者：Springer Netherlands
- ISSN：1573-2592
文摘
B cell activating factor belonging to the TNF family (BAFF) and a proliferation inducing ligand (APRIL), and their receptors BAFF receptor (BAFFR), B cell maturation antigen (BCMA), and transmembrane activator and CAML interactor (TACI) are involved in the regulation of B cell homeostasis and differentiation. BAFF overexpression leads to systemic lupus erythematosus (SLE) in mice and elevated BAFF levels have been observed in human SLE and mouse models for SLE. Furthermore, genetic inactivation of TACI in mice results in a SLE-like phenotype. Based on our recent finding that TACI is mutated in patients with common variable immunodeficiency, of whom more than 30% suffer from autoimmune conditions, we analyzed TACI in humans with SLE. Sequence analysis of TNFRSF13b/TACI in 119 unrelated SLE patients revealed four variants: R20C in exon 1, R72H in exon 3, the silent variation c.327 G > A in exon 3, and A181E in exon 4. No significant association with any of these variants was found, when compared to the frequencies of the variants in a healthy control cohort. Furthermore, the mutated alleles R20C and R72H did not segregate with the SLE phenotype in familial cases of SLE. Thus, our evaluation of the coding region of TNFRSF13b/TACI did not reveal any deleterious or disease-associated mutations.