Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus.

Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus.
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DOI:
10.1038/ng.202
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发表时间:
2008-09
期刊:
影响因子:
30.8
通讯作者:
Criswell, Lindsey A.
Criswell, Lindsey A.
中科院分区:
生物学1区
文献类型:
--
作者:
Musone, Stacy L.;Taylor, Kimberly E.;Lu, Timothy T.;Nititham, Joanne;Ferreira, Ricardo C.;Ortmann, Ward;Shifrin, Nataliya;Petri, Michelle A.;Kamboh, M. Ilyas;Manzi, Susan;Seldin, Michael F.;Gregersen, Peter K.;Behrens, Timothy W.;Ma, Averil;Kwok, Pui-Yan;Criswell, Lindsey A.

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TNFAIP3(肿瘤坏死因子α诱导蛋白3)基因编码一种泛素编辑酶A20,该酶限制NF-κ b依赖性信号传导并防止炎症。我们发现TNFAIP3区域的三个独立snp (rs13192841, rs2230926和rs6922466)与欧洲血统个体的系统性红斑狼疮(SLE)相关。这些发现提供了A20与SLE病因之间的关键联系。
The TNFAIP3 (tumor necrosis factor alpha–induced protein 3) gene encodes a ubiquitin editing enzyme, A20, that restricts NF-κB–dependent signaling and prevents inflammation. We show that three independent SNPs in the TNFAIP3 region (rs13192841, rs2230926 and rs6922466) are associated with systemic lupus erythematosus (SLE) among individuals of European ancestry. These findings provide critical links between A20 and the etiology of SLE.
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