Genetic factors predisposing to systemic lupus erythematosus and lupus nephritis.
Genetic factors predisposing to systemic lupus erythematosus and lupus nephritis.
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系统性红斑狼疮及狼疮性肾炎的遗传易患因素。
DOI：
10.1016/j.semnephrol.2010.01.007
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发表时间：
2010-03
影响因子：
3.3
通讯作者：
Langefeld, Carl D.
中科院分区：
文献类型：
--
作者：
Ramos, Paula S.;Brown, Elisabeth E.;Kimberly, Robert P.;Langefeld, Carl D.
系统性红斑狼疮 (SLE) 是一种慢性炎症性疾病，其特征是对自身抗原失去耐受性并产生高滴度的血清自身抗体。狼疮性肾炎可影响高达 74% 的 SLE 患者，尤其是西班牙裔和非洲裔患者，并且仍然是发病和死亡的主要原因。 SLE 的遗传病因现已得到充分证实。由于广泛的合作，过去几年取得了非凡的进展，已确认的 SLE 易感基因数量已猛增至约 30 个。对 CNV 和表观遗传改变等其他形式遗传变异的研究正在兴起，有望彻底改变我们对疾病机制的认识。然而，迄今为止，在识别狼疮性肾炎特有的遗传因素方面进展甚微。在不久的将来，两项大规模的工作，即基于白种人所有全基因组关联数据的狼疮性肾炎协作荟萃分析以及对其他四个种族的平行扫描，有望在狼疮性肾炎的遗传学方面取得根本性的发现。总的来说，这些发现将证明一系列广泛的途径强调了系统性红斑狼疮和狼疮性肾炎的遗传异质性，并为开发新疗法提供了潜在途径。
Systemic Lupus Erythematosus (SLE) is a chronic inflammatory disease characterized by a loss of tolerance to self-antigens and the production of high titers of serum autoantibodies. Lupus nephritis can affect up to 74% of SLE patients, particularly those of Hispanic and African ancestries, and remains a major cause of morbidity and mortality. A genetic etiology in SLE is now well substantiated. Thanks to extensive collaborations, extraordinary progress has been made in the last few years and the number of confirmed genes predisposing to SLE has catapulted to approximately 30. Studies of other forms of genetic variation, such as CNVs and epigenetic alterations, are emerging and promise to revolutionize our knowledge about disease mechanisms. However, to date little progress has been made on the identification of genetic factors specific to lupus nephritis. On the near horizon, two large-scale efforts, a collaborative meta-analysis of lupus nephritis based on all genome-wide association data in Caucasians and parallel scans in four other ethnicities, are poised to make fundamental discoveries in the genetics of lupus nephritis. Collectively, these findings will demonstrate that a broad array of pathways underlines the genetic heterogeneity of SLE and lupus nephritis, and provide potential avenues for the development of novel therapies.
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影响因子：
30.8
作者：
通讯作者：
--
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：
2.6
作者：
Dai, Y.;Huang, Y-S;Yin, Y-B
通讯作者：
Yin, Y-B
影响因子：
13.2
作者：
FREEDMAN, BI;SPRAY, BJ;CANZANELLO, VJ
通讯作者：
CANZANELLO, VJ