A polymorphism within IL21R confers risk for systemic lupus erythematosus.
A polymorphism within IL21R confers risk for systemic lupus erythematosus.
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DOI：
10.1002/art.24658
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发表时间：
2009-08
影响因子：
--
通讯作者：
Sawalha, Amr H.
中科院分区：
文献类型：
--
作者：
Webb, Ryan;Merrill, Joan T.;Kelly, Jennifer A.;Sestak, Andrea;Kaufman, Kenneth M.;Langefeld, Carl D.;Ziegler, Julie;Kimberly, Robert P.;Edberg, Jeffrey C.;Ramsey-Goldman, Rosalind;Petri, Michelle;Reveille, John D.;Alarcon, Graciela S.;Vila, Luis M.;Alarcon-Riquelme, Marta E.;James, Judith A.;Gilkeson, Gary S.;Jacob, Chaim O.;Moser, Kathy L.;Gaffney, Patrick M.;Vyse, Timothy J.;Nath, Swapan K.;Lipsky, Peter;Harley, John B.;Sawalha, Amr H.
白介素21是I型细胞因子超家族的一员，在免疫系统中发挥多种作用，包括B细胞活化、浆细胞分化和免疫球蛋白的产生。IL-21R在狼疮患者B细胞中的表达降低，而在狼疮患者和某些狼疮-小鼠模型中血清IL-21水平升高。我们最近报道，IL21基因内的多态与狼疮的易感性增加有关。在此，我们研究了IL21R内SNPs与狼疮的遗传关联。我们在两大群狼疮患者和种族匹配的健康对照中对IL21R基因中的17个SNPs进行了基因分型。用Illumina BeadStation 500GX仪器进行基因分型，采用Illumina Infinum II基因分型方法。我们在两个独立的欧洲和西班牙裔队列中发现并确认了IL21R基因内的rs3093301与狼疮的相关性(Meta分析优势比=1.16，95%CI=1.08-1.25，Meta分析p=1.0×10-4)。我们发现IL21R是一个新的狼疮易感基因。
Interleukin (IL) 21 is a member of the type I cytokine superfamily that exerts a variety of effects on the immune system including B cell activation, plasma cell differentiation, and immunoglobulin production. The expression of IL21R is reduced in B cells from lupus patients, while IL21 serum levels are increased in both lupus patients and some lupus-murine models. We recently reported that polymorphisms within the IL21 gene are associated with increased susceptibility to lupus. Herein, we examined the genetic association between SNPs within IL21R and lupus. We genotyped 17 SNPs in the IL21R gene in two large cohorts of lupus patients and ethnically-matched healthy controls. Genotyping was performed with the Illumina BeadStation 500GX instrument using Illumina Infinum II genotyping assays. We identified and confirmed the association between rs3093301 within the IL21R gene and lupus in two independent European-derived and Hispanic cohorts (meta analysis odds ratio= 1.16, 95% CI= 1.08-1.25, meta analysis p=1.0×10-4). We identified IL21R as a novel susceptibility gene for lupus.
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影响因子：
27.4
作者：
Sawalha, A. H.;Kaufman, K. M.;Harley, J. B.
通讯作者：
Harley, J. B.
影响因子：
64.8
作者：
Yang, Li;Anderson, David E.;Hafler, David A.
通讯作者：
Hafler, David A.
影响因子：
64.8
作者：
Parrish-Novak, J;Dillon, SR;Foster, D
通讯作者：
Foster, D
影响因子：
30.8
作者：
Nath, Swapan K.;Han, Shizhong;Harley, John B.
通讯作者：
Harley, John B.
影响因子：
--
作者：
REICHLIN, M;HARLEY, JB;LOCKSHIN, MD
通讯作者：
LOCKSHIN, MD