Project description:<p>A Genome-wide association study of primary biliary cirrhosis (PBC) with an Italian cohort and loci meeting suggestive criteria were confirmed using a replication dataset from a previous Canadian study. The results confirmed associations for IL12A, IL12RB2, and HLA (peak between DQA1 and DQB1) and identified novel associations with IKZF3/ORMDL3 on chromosome 17, SPIB on chromosome 19, and IRF5 on chromosome. These studies also provided definition of haplotypic associations, differences between the PBC associated chromosome 17 haplotype and that of pediatric asthma and suggested several other genes as candidates for PBC susceptibility including DENND1B.</p>
Project description:Genome-wide association scan was performed in 1,840 cases of primary biliary cirrhosis and 5,163 controls. Replication of new associations was tested in an independent set of 620 cases and 2,514 controls.
| EGAS00000000039 | EGA
Project description:Metagenome of mice biliary cirrhosis
Project description:Primary biliary cholangitis (PBC), formally known as primary biliary cirrhosis, is an autoimmune liver disease of unknown pathogenesis. Consequently, therapeutic targets for PBC have yet to be identified. As CD4+ T cells play a pivotal role in immunological dysfunction observed in PBC, we analyzed microRNA(miRNA) and mRNA expression in CD4+ T cells to investigate PBC pathogenesis and identify novel therapeutic targets.
Project description:We characterized the tcr repertoire diversity of CD8αα T cells and CD8αβ T cells in liver microenvironment of in dnTGFβRII mice, a classical Primary Biliary Cirrhosis mouse model .
Project description:Genome-wide analysis of DNA methylation, copy number variation, and gene expression in monozygotic twins discordant for primary biliary cirrhosis (PBC). DNA and RNA collection of identical and non identical twins with PBC and performed a genome-wide investigation to determine differences in DNA methylation, CNV, and gene expression.
