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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 an unknown cause of autoimmune liver disease, more common in middle-aged women. Among the many known risk factors, demographic factors, environmental factors and genetic factors as well as family history, smoking history and urinary tract infection have been valued. In recent years, with the deepening of research, especially the application of genome-wide association study (GWAS) technology, some dangerous genes that may cause the disease, such as human leukocyte antigen gene, interleukin (IL) -12 and X chromosome Monomer and so on. In the future, a large number of samples and GWAS data will also be needed to validate this statement, in order to elucidate the pathogenesis of the disease at the gene level.