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Association analysis of toll-like receptor 4 polymorphisms in Japanese primary biliary cirrhosis
Authors:Susumu Morita  Satoru Joshita  Takeji Umemura  Yoshihiko Katsuyama  Takefumi Kimura  Michiharu Komatsu  Akihiro Matsumoto  Kaname Yoshizawa  Astushi Kamijo  Nobuyoshi Yamamura  Eiji Tanaka  Masao Ota
Institution:1. Department of Medicine, Division of Hepatology and Gastroenterology, Shinshu University School of Medicine, Matsumoto, Japan;2. Department of Legal Medicine, Shinshu University School of Medicine, Matsumoto, Japan;3. Department of Pharmacy, Shinshu University Hospital, Matsumoto, Japan;4. Department of Gastroenterology, Suwa Red Cross Hospital, Suwa, Japan
Abstract:Primary biliary cirrhosis (PBC) is characterized by portal inflammation and immune-mediated destruction of intrahepatic bile ducts that often result in liver failure. Toll-like receptor (TLR) 4 recognizes lipopolysaccharides of Gram-negative bacteria. Infectious agents have been suspected to play a crucial role in PBC pathogenesis since TLR4 expression was found in bile duct epithelial cells and periportal hepatocytes in liver tissues of PBC. To assess the potential contribution of TLR4 SNPs to the development of this disease, we genotyped five SNPs in TLR4 in 261 PBC patients and 359 controls using a TaqMan assay. No significant positive associations with either PBC susceptibility or progression were uncovered. These results indicate that TLR4 polymorphisms do not play a prominent role in the development of PBC in Japanese patients.
Keywords:PBC  primary biliary cirrhosis  TLR  toll-like receptor  LPS  lipopolysaccharide  SNPs  single nucleotide polymorphisms
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