tailieunhanh - báo cáo khoa học: " Genomic variants associated with primary biliary cirrhosis"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Genomic variants associated with primary biliary cirrhosis | Selmi et al. Genome Medicine 2010 2 5 http content 2 1 5 w Genome Medicine REVIEW L_ Genomic variants associated with primary biliary cirrhosis Carlo Selmi1 2 Natalie J Torok3 Andrea Affronti2 and M Eric Gershwin 4 Abstract Primary biliary cirrhosis PBC is an autoimmune hepatobiliary disease characterized by immune-mediated injury of small and medium-sized bile ducts eventually leading to liver cirrhosis. Several studies have addressed PBC immunopathology and the data support an immune activation leading to autoantibodies and autoreactive T cells acting against the lipoylated 2-oxoacid dehydrogenase complexes. The causes of the disease remain unknown but environmental factors and genetic susceptibility both contribute to its onset. Over the past two decades several association studies have addressed the role of genetic polymorphisms in PBC pathogenesis and have reported multiple associations. However only a few studies had sufficient statistical power and in most cases results were not independently validated. A genome-wide association study has recently been reported but this too awaits independent confirmation. The aim of this present work is to critically review the numerous studies dedicated to revealing genetic associations in PBC and to predict the potential for future studies based on these data. Highlights of primary biliary cirrhosis Primary biliary cirrhosis PBC is an autoimmune chronic cholestatic liver disease histopathologically characterized by portal inflammation and immune-mediated destruction of the intrahepatic bile ducts within the portal tracts and epithelioid granulomas around damaged bile ducts. The loss of bile ducts leads to decreased bile secretion and the retention of toxic substances within the liver resulting in further hepatic damage fibrosis cirrhosis and eventually liver failure 1 . Serologically Correspondence megershwin@ 4Division of Rheumatology Allergy and Clinical Immunology University of .

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