Lack of Association between Polymorphisms of the TLR4 Gene and Infection with the Hepatitis B and C Viruses.

Toll-like receptor 4 (TLR4) plays a crucial role in the early recognition of pathogenic microorganisms and provides an ideal model to investigate the consequences of genetic variation and susceptibility to diseases. The present study investigated the occurrence of the single nucleotide polymorphisms (SNPs) rs4986790 (A>G) and rs4986791 (C>T) in the TLR4 gene in chronic carriers of the hepatitis B (HBV) and C (HCV) viruses. A total of 420 blood samples were collected (HBV, 49; HCV, 72; and controls, 299) at the liver disease outpatient clinic of Hospital da Fundação Santa Casa de Misericórdia do Pará (FSCMPA). Genomic DNA extracted from leukocytes was subjected to real-time polymerase chain reaction (qPCR) analysis to identify the genetic profile of the participants. No significant differences were found in the allele and genotype frequencies between the infected participants and controls. No significant associations were found between the investigated polymorphisms and inflammatory activity, fibrosis, and the presence of cirrhosis; the same results were obtained in the haplotype analysis. The results showed a lack of association between the rs4986790 and rs4986791 SNPs and susceptibility to infection with HBV and HCV, as well as clinical and laboratory information of the patients.

Toll-like receptor 3 gene polymorphisms are not associated with the risk of hepatitis B and hepatitis C virus infection.

INTRODUCTION: The present study investigated the prevalence of two single-nucleotide polymorphisms (SNPs) in the Toll-like receptor 3 (TLR3) gene in patients infected with hepatitis B virus (HBV) and hepatitis C virus (HCV). METHODS: Samples collected from HCV (n = 74) and HBV (n = 35) carriers were subjected to quantitative real-time PCR (qPCR) to detect the presence of the SNPs rs5743305 and rs3775291 in TLR3 and to measure the following biomarkers: alanine aminotransferase (ALT), aspartate aminotransferase (AST), gamma-glutamyl transpeptidase (GGT), and prothrombin time (PT). A healthy control group was investigated and consisted of 299 HCV- and HBV-seronegative individuals. RESULTS: No significant differences in allele, genotype and haplotype frequencies were observed between the investigated groups, and no association was observed between the polymorphisms and histopathological results. Nevertheless, genotypes TA/AA (rs5743305) and GG (rs3775291) appear to be associated with higher levels of ALT (p<0.01), AST (p<0.05) and PT (p<0.05). In addition, genotypes TT (rs5743305; p<0.05) and GG (rs3775291; p<0.05) were associated with higher GGT levels. CONCLUSIONS: This genetic analysis revealed the absence of an association between the polymorphisms investigated and susceptibility to HBV and HCV infection; however, these polymorphisms might be associated with a greater degree of biliary damage during the course of HCV infection.

Toll-like receptor 3 gene polymorphisms are not associated with the risk of hepatitis B and hepatitis C virus infection

INTRODUCTION: The present study investigated the prevalence of two single-nucleotide polymorphisms (SNPs) in the Toll-like receptor 3 (TLR3) gene in patients infected with hepatitis B virus (HBV) and hepatitis C virus (HCV). METHODS: Samples collected from HCV (n = 74) and HBV (n = 35) carriers were subjected to quantitative real-time PCR (qPCR) to detect the presence of the SNPs rs5743305 and rs3775291 in TLR3 and to measure the following biomarkers: alanine aminotransferase (ALT), aspartate aminotransferase (AST), gamma-glutamyl transpeptidase (GGT), and prothrombin time (PT). A healthy control group was investigated and consisted of 299 HCV- and HBV-seronegative individuals. RESULTS: No significant differences in allele, genotype and haplotype frequencies were observed between the investigated groups, and no association was observed between the polymorphisms and histopathological results. Nevertheless, genotypes TA/AA (rs5743305) and GG (rs3775291) appear to be associated with higher levels of ALT (p<0.01), AST (p<0.05) and PT (p<0.05). In addition, genotypes TT (rs5743305; p<0.05) and GG (rs3775291; p<0.05) were associated with higher GGT levels. CONCLUSIONS: This genetic analysis revealed the absence of an association between the polymorphisms investigated and susceptibility to HBV and HCV infection; however, these polymorphisms might be associated with a greater degree of biliary damage during the course of HCV infection. .

Síndrome de Caroli: relato de caso clínico / Caroli´s syndrome: clinical case report

Objetivo: apresentar caso clínico de paciente internada em um hospital em Belém do Pará, no qual foi diagnosticado Síndrome de Caroli e sua evolução após terapêutica adequada. Relato do Caso: paciente do sexo feminino, 37 anos, com quadro de hemorragia digestiva alta volumosa, internada de urgência em hospital de grande porte. Ao exame apresentava-se desidratada, descorada, com distensão abdominal e hepatoesplenomegalia. À endoscopia digestiva detectaram-se varizes esofagianas com sangramento ativo, as quais foram submetidas à escleroterapia. A investigação hospitalar posterior constatou hepatopatia crônica e dilatações saculares das vias biliares intra-hepáticas, com fibrose hepática difusa, consolidando-se o diagnóstico de Síndrome de Caroli. A paciente atualmente está em seguimento ambulatórial, aguardando realização de transplante hepático. Considerações finais: o caso de Síndrome de Caroli estudado ratifica a importância da doença como diagnóstico diferencial em pacientes que apresentam quadro clínico compatível com síndrome de hipertensão portal e colangite, com necessidade de diagnóstico precoce devido ao risco caracteristicamente aumentado de colangiocarcinoma, sendo muitas vezes o transplante hepático a melhor opção terapêutica.

Objective: to report the clinical case of a patient admitted to a hospital in Belem, which was diagnosed Caroli's syndrome, and her evolution after appropriate therapy. Case report: A female patient, 37 years old with a massive upper gastrointestinal bleeding was referred for emergency admission in a large hospital. She was referred for gastrointestinal endoscopy, detecting active bleeding from esophageal varices, which were submitted to sclerotherapy. The subsequent investigation confirmed chronic liver disease and diffuse saccular dilatation of intrahepatic bile ducts with diffuse hepatic fibrosis, consolidating the diagnosis of Caroli`s Syndrome. Currently, the patient is in follow up, awaiting liver transplantation. Final considerations: the study of this Caroli's syndrome case confirms the importance of this disease as a differential diagnosis in patients presenting with clinical syndromecompatible with portal hypertension and cholangitis, requiring early diagnosis due to increased risk of cholangiocarcinoma, and often the liver transplant is the best treatment option.