原发性胆汁性肝硬化（PBC）是一种原因不明的自身免疫性肝病，多见于中年女性。在已知的诸多发病危险因素中，人口学因素、环境因素和遗传因素以及家族史、吸烟史和尿路感染等一直为人们所重视。近年来，随着研究的深入，特别是全基因组关联研究（GWAS）技术的应用，发现了一些可能导致该病的危险基因，如人类白细胞抗原基因、白细胞介素（IL）-12和X染色体单体等。今后，还需要大量的样本和GWAS数据来验证这一说法，以期从基因水平上阐述该病的发病机制。%Primary biliary cirrhosis(PBC) is considered as an idiopathic autoimmune liver disease,mainly found in mid-dle-aged women. Out of many related risk factors,the demographic factors,environmental factors and genetic factors as well as family history,smoking history and urinary tract infections,have always been thought to be important. In recent years,with the progress in basic and clinical research,especially the application of genome-wide association study technology,scholars found some genes,such as human leukocyte antigen genes,interleukin (IL)-12 and the X chromosome monomer,etc,may lead to this disease. In the future,more samples and GWAS data are needed to verify those new findings to elaborate the pathogenesis of the disease in genetic level.
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