Rhumatologie A, APHP, Hôpital Cochin, Université Paris Descartes, 27 Rue du faubourg St Jacques, 75014, Paris, France,
Rheumatol Int. 2014 Mar;34(3):389-92. doi: 10.1007/s00296-013-2673-8. Epub 2013 Feb 9.
Opsonization and apoptotic cell elements are critical in systemic lupus erythematosus (SLE) and could act through the activation of the innate immunity. C-reactive protein (CRP) belongs to opsonins, and polymorphisms of CRP gene have been shown to be associated with SLE susceptibility. Accumulating evidences show that SLE and systemic sclerosis (SSc) share some genetic susceptibility factors. To determine whether polymorphisms of CRP confer susceptibility to SSc, four SNPs (rs1130864, rs1205, rs1800947 and rs1341665), chosen using Hapmap linkage disequilibrium data and published data, were genotyped in a cohort of 651 SSc patients (569 with antinuclear antibodies, 258 with anti-centromere and 153 with anti-topoisomerase I) and 442 controls. All individuals were of French Caucasian origin. The four polymorphisms were in Hardy-Weinberg equilibrium in the control population. Allelic and genotypic frequencies for these four polymorphisms were found to be similar in SSc patients and controls. Moreover, subphenotype analyses in particular for subgroups having antinuclear antibodies did not detect any difference between SSc patients and controls. These results obtained through a large cohort of European Caucasian SSc patients do not support the implication of CRP gene in the pathogenesis of SSc.
调理作用和凋亡细胞成分在系统性红斑狼疮(SLE)中至关重要,可能通过先天免疫的激活起作用。C 反应蛋白(CRP)属于调理蛋白,CRP 基因的多态性已被证明与 SLE 的易感性有关。越来越多的证据表明,SLE 和系统性硬皮病(SSc)有一些共同的遗传易感因素。为了确定 CRP 多态性是否导致 SSc 易感性,使用 Hapmap 连锁不平衡数据和已发表的数据选择了四个 SNP(rs1130864、rs1205、rs1800947 和 rs1341665),并对 651 例 SSc 患者(569 例抗核抗体阳性,258 例抗着丝点抗体阳性,153 例抗拓扑异构酶 I 抗体阳性)和 442 名对照进行了基因分型。所有个体均为法国白种人。对照组人群中这四个多态性均处于哈迪-温伯格平衡状态。这四个多态性的等位基因和基因型频率在 SSc 患者和对照组中相似。此外,针对具有抗核抗体的亚表型分析并未在 SSc 患者和对照组之间发现任何差异。通过对大量欧洲白种人 SSc 患者的队列进行研究,这些结果不支持 CRP 基因在 SSc 发病机制中的作用。