Genetic susceptibility to systemic lupus erythematosus in the genomic era.
Genetic susceptibility to systemic lupus erythematosus in the genomic era.
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DOI：
10.1038/nrrheum.2010.176
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发表时间：
2010-12
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影响因子：
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在过去的三年中，通过大规模病例对照、候选基因研究以及全基因组关联研究，我们对系统性红斑狼疮 (SLE) 遗传基础的了解迅速加深。这些技术已鉴定出 30 多种与 SLE 密切相关的遗传关联，包括 HLA 和 Fcγ 受体基因、IRF5、STAT4、PTPN22、TNFAIP3、BLK、BANK1、TNFSF4 和 ITGAM 的遗传变异。大多数SLE相关基因产物参与关键致病途径，包括Toll样受体和I型干扰素信号传导途径、免疫调节途径以及控制免疫复合物清除的途径。尚未被证明在免疫系统中具有重要功能的疾病相关位点可能为 SLE 发病机制或进展的潜在分子机制提供新线索。值得注意的是，系统性红斑狼疮和其他免疫相关疾病共有的遗传风险因素突出了这些疾病病理生理学的共同途径，并可能为治疗干预提供创新的分子靶点。
Our understanding of the genetic basis of systemic lupus erythematosus (SLE) has been rapidly advanced using large-scale, case–control, candidate gene studies as well as genome-wide association studies during the past 3 years. These techniques have identified more than 30 robust genetic associations with SLE including genetic variants of HLA and Fcγ receptor genes, IRF5, STAT4, PTPN22, TNFAIP3, BLK, BANK1, TNFSF4 and ITGAM. Most SLE-associated gene products participate in key pathogenic pathways, including Toll-like receptor and type I interferon signaling pathways, immune regulation pathways and those that control the clearance of immune complexes. Disease-associated loci that have not yet been demonstrated to have important functions in the immune system might provide new clues to the underlying molecular mechanisms that contribute to the pathogenesis or progression of SLE. Of note, genetic risk factors that are shared between SLE and other immune-related diseases highlight common pathways in the pathophysiology of these diseases, and might provide innovative molecular targets for therapeutic interventions.
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影响因子：
4.5
作者：
Barcellos LF;May SL;Ramsay PP;Quach HL;Lane JA;Nititham J;Noble JA;Taylor KE;Quach DL;Chung SA;Kelly JA;Moser KL;Behrens TW;Seldin MF;Thomson G;Harley JB;Gaffney PM;Criswell LA
通讯作者：
Criswell LA
影响因子：
27.4
作者：
Abelson AK;Delgado-Vega AM;Kozyrev SV;Sánchez E;Velázquez-Cruz R;Eriksson N;Wojcik J;Linga Reddy MV;Lima G;D'Alfonso S;Migliaresi S;Baca V;Orozco L;Witte T;Ortego-Centeno N;AADEA group;Abderrahim H;Pons-Estel BA;Gutiérrez C;Suárez A;González-Escribano MF;Martin J;Alarcón-Riquelme ME
通讯作者：
Alarcón-Riquelme ME
影响因子：
--
作者：
Eskdale, J;Wordsworth, P;Gallagher, G
通讯作者：
Gallagher, G
6q23 上 TNFAIP3 附近的遗传变异与系统性红斑狼疮相关。
影响因子：
30.8
作者：
Graham, Robert R.;Cotsapas, Chris;Davies, Leela;Hackett, Rachel;Lessard, Christopher J.;Leon, Joanlise M.;Burtt, Noel P.;Guiducci, Candace;Parkin, Melissa;Gates, Casey;Plenge, Robert M.;Behrens, Timothy W.;Wither, Joan E.;Rioux, John D.;Fortin, Paul R.;Graham, Deborah Cunninghame;Wong, Andrew K.;Vyse, Timothy J.;Daly, Mark J.;Altshuler, David;Moser, Kathy L.;Gaffney, Patrick M.
通讯作者：
Gaffney, Patrick M.
影响因子：
--
作者：
Chu, ZT;Tsuchiya, N;Tokunaga, K
通讯作者：
Tokunaga, K