Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Instituto de Medicina Tropical da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Front Immunol. 2022 Oct 13;13:1032591. doi: 10.3389/fimmu.2022.1032591. eCollection 2022.
Although the prevalence of autoimmune hepatitis in first-degree relatives is small, the relationship between genetic markers, especially human leucocyte antigens (HLA), and susceptibility to this disease, has been studied for over three decades. The genetic susceptibility to AIH is believed to be different in the two subtypes of the disease, AIH type 1 and AIH type 2. Type 1 AIH has anti-smooth muscle and anti-nuclear antibodies as its main markers, while those of type 2 AIH are the anti-liver/kidney microsome type 1 and anti-liver cytosol type 1 antibodies. The anti-soluble liver antigen/liver-pancreas antibodies, which, in addition to being present in both subtypes, mark an important number of patients without serological markers. Therefore, a third type of disease is questionable. The vast majority of immunogenetic studies compare the differences between the two main types and make no difference between which antibodies are present to define the subtype. This review seeks to analyze what was most important published in the AIH in this context, trying to relate the HLA alleles according to the AIH marker autoantibodies.
尽管一级亲属中自身免疫性肝炎的患病率较小,但人们已经对该疾病的遗传标记物(尤其是人类白细胞抗原 [HLA])与易感性之间的关系进行了超过三十年的研究。人们认为,两种疾病亚型(1 型和 2 型自身免疫性肝炎)的遗传易感性存在差异。1 型 AIH 的主要标志物为抗平滑肌抗体和抗核抗体,而 2 型 AIH 的标志物为抗肝肾微粒体 1 型抗体和抗肝胞浆 1 型抗体。除了这两种亚型均存在的抗可溶性肝抗原/肝胰腺抗体外,该抗体还标记了相当数量无血清学标志物的患者,因此,存在第三种疾病类型的疑问。绝大多数免疫遗传学研究比较了两种主要类型之间的差异,而没有对存在哪种抗体来定义亚型进行区分。本综述试图分析在这方面发表的自身免疫性肝炎最重要的研究成果,尝试根据 AIH 标志物自身抗体来关联 HLA 等位基因。