Goldberg A C, Bittencourt P L, Oliveira L C, Ramasawmy R, Marin M L C, Palacios S A, Kalil J, Porta G
Department of Biochemistry, Chemistry Institute, University of São Paulo, São Paulo, Brazil.
Scand J Immunol. 2007 Aug-Sep;66(2-3):208-16. doi: 10.1111/j.1365-3083.2007.01967.x.
Autoimmune hepatitis is an immune cell-mediated chronic liver disease of unknown cause that leads, when untreated, to cirrhosis and liver failure. Importantly, this disease affects not only adults but children as well. Genetic susceptibility is clearly important and the major susceptibility factor identified up to now is the HLA-DRB1 locus, but other genes may play a role as well. HLA-DRB1 alleles present in South American patients differ from those found in patients in other parts of the world. In addition, we have recently identified two chromosomal regions where additional susceptibility factors may be found in Brazilian patients, namely, the class III MHC region and the 5q31 region where the IL-4 and IL-13 genes are located. This review discusses the current knowledge of the pathogenesis of this autoimmune disease occurring in the setting of an immune-privileged organ, the liver, and compares the data on gene polymorphisms studied in Brazil and in other parts of the world.
自身免疫性肝炎是一种病因不明的免疫细胞介导的慢性肝病，若不治疗，会导致肝硬化和肝衰竭。重要的是，这种疾病不仅影响成年人，也影响儿童。遗传易感性显然很重要，目前已确定的主要易感因素是HLA-DRB1基因座，但其他基因可能也起作用。南美患者中存在的HLA-DRB1等位基因与世界其他地区患者中发现的不同。此外，我们最近在巴西患者中确定了两个可能存在其他易感因素的染色体区域，即III类MHC区域和IL-4和IL-13基因所在的5q31区域。本文综述了在免疫特惠器官肝脏中发生的这种自身免疫性疾病发病机制的当前知识，并比较了巴西和世界其他地区研究的基因多态性数据。
