The inflammasome is a cytoplasmic multiprotein complex responsible for the activation of inflammatory caspases (caspase-1, -4, and -5) in response to pathogen- and/or damage-associated molecular patterns or to homeostasis-altering molecular pathways, and for the consequent release of the pro-inflammatory cytokines interleukin (IL)-1ß and IL-18. Taking in account the complexity of inflammasome activation and that several regulatory steps are involved in maintaining its physiologic role in homeostasis and innate immune response, it does not surprise that several genetic variants in inflammasome components have been associated with common pathologies in the general population, such as autoimmune disorders, cardiovascular diseases, obesity and associated metabolic syndrome, neurodegenerative diseases, and cancer. Moreover, the susceptibility to infectious agents and/or to develop severe complications during infections also has been related to inflammasome genetics. In this work, we revised genetic association studies about polymorphisms of main inflammasome genes in sterile as well as infectious diseases, trying to depict the genetic contribution of inflammasome in disease pathogenesis.

炎性小体是一种细胞质多蛋白复合物，负责响应病原体和/或损伤相关分子模式或改变稳态的分子途径，激活炎症性胱天蛋白酶（胱天蛋白酶-1，-4和-5）。随后释放促炎细胞因子白介素（IL）-1ß和IL-18。考虑到炎性体激活的复杂性以及维持其在体内稳态和先天性免疫反应中的生理作用涉及几个调节步骤，因此，并不令人惊讶的是，炎性体成分中的几种遗传变异与普通人群的常见病理相关，例如如自身免疫性疾病，心血管疾病，肥胖症和相关代谢综合征，神经退行性疾病和癌症。此外，在感染过程中易受感染因素影响和/或发展出严重的并发症也与炎症小体遗传有关。在这项工作中，我们修订了关于无菌和传染性疾病中主要炎性体基因多态性的遗传关联研究，试图描绘炎性体在疾病发病机理中的遗传贡献。