Liu Kui, Li Quan-Zhen, Delgado-Vega Angelica M, Abelson Anna-Karin, Sánchez Elena, Kelly Jennifer A, Li Li, Liu Yang, Zhou Jinchun, Yan Mei, Ye Qiu, Liu Shenxi, Xie Chun, Zhou Xin J, Chung Sharon A, Pons-Estel Bernardo, Witte Torsten, de Ramón Enrique, Bae Sang-Cheol, Barizzone Nadia, Sebastiani Gian Domenico, Merrill Joan T, Gregersen Peter K, Gilkeson Gary G, Kimberly Robert P, Vyse Timothy J, Kim Il, D'Alfonso Sandra, Martin Javier, Harley John B, Criswell Lindsey A, Wakeland Edward K, Alarcón-Riquelme Marta E, Mohan Chandra
Department of Immunology and Department of Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390-8884, USA.
J Clin Invest. 2009 Apr;119(4):911-23. doi: 10.1172/JCI36728.
Immune-mediated nephritis contributes to disease in systemic lupus erythematosus, Goodpasture syndrome (caused by antibodies specific for glomerular basement membrane [anti-GBM antibodies]), and spontaneous lupus nephritis. Inbred mouse strains differ in susceptibility to anti-GBM antibody-induced and spontaneous lupus nephritis. This study sought to clarify the genetic and molecular factors that maybe responsible for enhanced immune-mediated renal disease in these models. When the kidneys of 3 mouse strains sensitive to anti-GBM antibody-induced nephritis were compared with those of 2 control strains using microarray analysis, one-fifth of the underexpressed genes belonged to the kallikrein gene family,which encodes serine esterases. Mouse strains that upregulated renal and urinary kallikreins exhibited less evidence of disease. Antagonizing the kallikrein pathway augmented disease, while agonists dampened the severity of anti-GBM antibody-induced nephritis. In addition, nephritis-sensitive mouse strains had kallikrein haplotypes that were distinct from those of control strains, including several regulatory polymorphisms,some of which were associated with functional consequences. Indeed, increased susceptibility to anti-GBM antibody-induced nephritis and spontaneous lupus nephritis was achieved by breeding mice with a genetic interval harboring the kallikrein genes onto a disease-resistant background. Finally, both human SLE and spontaneous lupus nephritis were found to be associated with kallikrein genes, particularly KLK1 and the KLK3 promoter, when DNA SNPs from independent cohorts of SLE patients and controls were compared. Collectively, these studies suggest that kallikreins are protective disease-associated genes in anti-GBM antibody-induced nephritis and lupus.
免疫介导性肾炎在系统性红斑狼疮、Goodpasture综合征(由针对肾小球基底膜的抗体[抗GBM抗体]引起)和自发性狼疮性肾炎中导致疾病发生。近交系小鼠品系对抗GBM抗体诱导的和自发性狼疮性肾炎的易感性存在差异。本研究旨在阐明可能导致这些模型中免疫介导性肾脏疾病加重的遗传和分子因素。当使用微阵列分析将3种对抗GBM抗体诱导的肾炎敏感的小鼠品系的肾脏与2种对照品系的肾脏进行比较时,下调基因中有五分之一属于激肽释放酶基因家族,该家族编码丝氨酸酯酶。上调肾脏和尿液中激肽释放酶的小鼠品系疾病证据较少。拮抗激肽释放酶途径会加重疾病,而激动剂则会减轻抗GBM抗体诱导的肾炎的严重程度。此外,肾炎敏感小鼠品系的激肽释放酶单倍型与对照品系不同,包括几种调节性多态性,其中一些与功能后果相关。实际上,通过将携带激肽释放酶基因的遗传间隔的小鼠培育到抗病背景上,可增加对抗GBM抗体诱导的肾炎和自发性狼疮性肾炎的易感性。最后,当比较来自SLE患者和对照的独立队列的DNA单核苷酸多态性时,发现人类SLE和自发性狼疮性肾炎均与激肽释放酶基因相关,特别是KLK1和KLK3启动子。总体而言,这些研究表明激肽释放酶在抗GBM抗体诱导的肾炎和狼疮中是具有保护作用的疾病相关基因。