Department of Medicine and Autoimmunity and Metabolism Unit, IRCCS Istituto Clinico Humanitas, Rozzano, Milan, Italy.
Arch Med Sci. 2011 Jun;7(3):368-80. doi: 10.5114/aoms.2011.23398. Epub 2011 Jul 11.
The pathways leading to autoimmunity remain enigmatic despite numerous lines of experimental inquiry and epidemiological evidence. The mechanisms leading to the initiation and perpetuation of specific diseases such as primary biliary cirrhosis (PBC) or multiple sclerosis (MS) remain largely enigmatic, although it is established that a combination of genetic predisposition and environmental stimulation is required. The growing number of genome-wide association studies and the largely incomplete concordance for autoimmune diseases in monozygotic twins concur to support the role of the environment (including infectious agents and chemicals) in the breakdown of tolerance leading to autoimmunity through different mechanisms. In the present article we illustrate the current hypotheses related to an environmental impact on the onset of PBC and MS as two representative conditions investigated with complementary approaches. Indeed, while a role of post-translational antigen modifications has been proposed for MS, this field remain unexplored in PBC where, conversely, most evidence is gathered from geoepidemiology and experimental data on xenobiotics or infectious agents.
尽管进行了大量的实验研究和流行病学证据调查,但导致自身免疫的途径仍然扑朔迷离。尽管已经确定需要遗传易感性和环境刺激的组合,但导致原发性胆汁性肝硬化 (PBC) 或多发性硬化症 (MS) 等特定疾病的起始和持续的机制在很大程度上仍然难以理解。越来越多的全基因组关联研究以及同卵双胞胎中自身免疫性疾病的一致性很大程度上支持环境(包括感染因子和化学物质)在导致自身免疫的耐受破坏中发挥作用的观点,其作用机制各不相同。在本文中,我们通过互补的方法,以 PBC 和 MS 这两种具有代表性的疾病为例,阐述了目前关于环境对其发病影响的假说。事实上,虽然已经提出了翻译后抗原修饰在 MS 中的作用,但在 PBC 中,这一领域尚未得到探索,而 PBC 中的大多数证据则来自于地理流行病学和有关外源性化学物质或感染因子的实验数据。