| [ Summary ] |
The pathogenesis of primary biliary cirrhosis (PBC) remains uncertain. However, based on familial clustering of PBC, some genetic factors are considered to contribute to the onset and development of PBC. One of the factors, HLA-DR locus distribution, has been determined worldwide and the HLA-DR8 locus is believed to be an associating factor. Other factors, such as genetic polymorphisms of several cytokine and immunologic factor genes have been investigated. Some of these have a close association with PBC. However, based on these results, PBC is suspected of being a polygenic disease. In this review, we described the studies on HLA and genetic polymorphism of several cytokines such as TNF-alpha, IL-10, TGF-beta, and MBL in relation to the pathogenesis of PBC. Further genetic analysis is needed to define the specific host gene(s), having a close linkage with the onset and/or development of PBC. |