Tumour necrosis factor-α promoter polymorphisms in primary biliary cirrhosis

HLA and cytokine gene polymorphisms in biliary atresia

“…For example, recent studies of the IL‐1 family gene polymorphisms have identified strong genetic associations with inflammatory bowel disease (22,35), gastric cancer (36), and both susceptibility and disease progression in PBC (23). Polymorphisms in the tumour necrosis factor alpha (TNF‐α) promoter gene sequence at position − 308 have been associated with the autoimmune liver diseases primary sclerosing cholangitis (19), PBC (37) and type 1 autoimmune hepatitis (18). Whereas, the IL10 promoter gene polymorphisms studied above have been linked with alcoholic liver disease (26) and with response to interferon‐α treatment in hepatitis C virus infection (24,25).…”

“…Whether immune involvement in EHBA is a primary or secondary event following either the expression of a morphological/developmental defect, viral infection, or other exogenous insult is unclear. Many recent studies in autoimmune and viral liver diseases have concentrated on identifying genetic influences on disease progression rather than genetic determinants of susceptibility per se (12,23,24,26,37). This approach in future studies may help identify factors involved in the development of fibrosis and cirrhosis in EHBA and provide useful prognostic indices.…”

Primary biliary cirrhosis: lessons learned from an organic-specific disease

“…166 The proinflammatory cytokine genes and genes for their receptors and inhibitors are responsible for the natural history of several autoimmune and infectious diseases. Although a number of such genes, including tumor necrosis factor-α and interleukin-10, have also been investigated in patients with PBC, most studies are negative or controversial as to the role of cytokines in the pathogenesis of PBC [14][15][16].…”