Laboratory of Medical Investigation in Dermatology and Immunodeficiency, LIM-56, Faculty of Medicine, University of Sao Paulo, Sao Paulo, Brazil.
Autoimmunity. 2012 Jun;45(4):271-8. doi: 10.3109/08916934.2011.637532. Epub 2012 Feb 7.
Recent findings provide evidence of inflammasome critical role in the predisposition to autoimmune disorders. The involvement of inflammasome in the pathogenesis of systemic lupus erythematosus (SLE) has been hypothesized even if no significant association within inflammasome genes mutations or polymorphisms and lupus has been reported yet. We analyzed 14 single nucleotide polymorphisms (SNPs) within 7 inflammasome genes (NLRP1, NLRP3, NLRC4, AIM2, CARD8, CASP1, IL1B) in 144 patients affected by systemic lupus erythematosus and in 158 healthy controls from Southern Brazilian (state of São Paulo) with the aim of disclosing the possible role of inflammasome genes in the susceptibility of SLE. Our results demonstrated that NLRP1 rs2670660 SNP and the NLRP1 rs12150220-rs2670660 A-G haplotype were associated with SLE in our study population, and in particular with the development of nephritis, rash and arthritis. These findings are concordant with previously reported association of NLRP1 with vitiligo and type-1 diabetes underlining once more the involvement of NALP1 inflammasome in the pathogenesis of autoimmune disorders.
最近的研究结果提供了证据，表明炎症小体在自身免疫性疾病易感性中起着关键作用。炎症小体在系统性红斑狼疮（SLE）发病机制中的作用已被假设，但尚未报道炎症小体基因突变或多态性与狼疮之间存在显著关联。我们分析了 144 例系统性红斑狼疮患者和 158 例来自巴西南部（圣保罗州）的健康对照者的 7 个炎症小体基因（NLRP1、NLRP3、NLRC4、AIM2、CARD8、CASP1、IL1B）中的 14 个单核苷酸多态性（SNP），旨在揭示炎症小体基因在 SLE 易感性中的可能作用。我们的研究结果表明，在本研究人群中，NLRP1 rs2670660 SNP 和 NLRP1 rs12150220-rs2670660 A-G 单倍型与 SLE 相关，特别是与肾炎、皮疹和关节炎的发生相关。这些发现与先前报道的 NLRP1 与白癜风和 1 型糖尿病的关联一致，再次强调了 NALP1 炎症小体在自身免疫性疾病发病机制中的作用。
