Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis.
Genetic Contribution to the Pathogenesis of Primary Biliary Cholangitis.
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DOI：
10.1155/2017/3073504
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发表时间：
2017
影响因子：
4.1
通讯作者：
Ota M
中科院分区：
文献类型：
--
作者：
Joshita S;Umemura T;Tanaka E;Ota M
原发性胆道胆管炎（PBC）以前被称为原发性胆汁性肝硬化，是一种慢性进行性胆汁淤积性肝病，其特征是存在抗线粒体抗体。熊去氧胆酸（UDCA）治疗是PBC最有效和最被批准的治疗方法，在绝大多数病例中都有良好的结果。虽然PBC的病因尚未阐明，但人类白细胞抗原（HLA） II类等位基因几十年来一直与疾病发病有关。世界上不同地理区域的个体可能具有不同的易感等位基因，这些等位基因反映了当地的触发抗原。在这篇综述中，我们描述了HLA等位基因和其他基因多态性对PBC的影响，以及该疾病的全基因组关联研究（GWAS）的结果。
Formerly termed primary biliary cirrhosis, primary biliary cholangitis (PBC) is a chronic and progressive cholestatic liver disease characterized by the presence of antimitochondrial antibodies. Ursodeoxycholic acid (UDCA) therapy is the most effective and approved treatment for PBC and leads to a favorable outcome in the vast majority of cases. Although the etiology of PBC has not yet been elucidated, human leukocyte antigen (HLA) class II alleles have been consistently associated with disease onset for decades. Individuals in different geographic regions of the world may have varying susceptibility alleles that reflect indigenous triggering antigens. In this review, we describe the influence of HLA alleles and other gene polymorphisms on PBC along with the results of genome-wide association studies (GWAS) on this disease.