Publications by authors named "Elizabeth C Goode"
Genome-wide association studies of primary sclerosing cholangitis have identified 23 susceptibility loci. The majority of these loci reside in non-coding regions of the genome and are thought to exert their effect by perturbing the regulation of nearby genes. Here, we aim to identify these genes to improve the biological understanding of primary sclerosing cholangitis, and nominate potential drug targets.
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- * We identified key clinical variables, such as serum alkaline phosphatase levels and extrahepatic biliary disease, that strongly predict 10-year outcomes, leading to the creation of two effective risk scoring systems.
- * Our new UK-PSC risk scores successfully predicted outcomes better than existing models, and while a specific genetic risk allele was associated with worse outcomes, it didn’t enhance the accuracy of our scores.
Article Synopsis
- The study focuses on primary sclerosing cholangitis (PSC), a serious liver disease with unclear genetic causes, aiming to understand the genetic factors that influence its progression and complications.
- Researchers analyzed data from 3,402 PSC patients, examining over 130,000 genetic variants to find associations with disease outcomes using statistical models.
- They discovered a specific genetic variant (rs853974) linked to liver transplant-free survival, showing that individuals with certain genetic profiles have significantly different survival rates post-diagnosis.
A review of the medical treatment of primary sclerosing cholangitis in the 21st century.
Ther Adv Chronic Dis
January 2016
Primary sclerosing cholangitis (PSC) is a chronic cholestatic liver disease that progresses to end-stage liver disease and cirrhosis. Recurrent biliary inflammation is thought to lead to dysplasia, and as such PSC confers a high risk of cholangiocarcinoma. PSC accounts for 10% of all UK liver transplants, although transplantation does not guarantee a cure with 20% recurrence in the graft.
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- The study investigates how N-linked glycans (NLGs) influence the production and secretion of von Willebrand Factor (VWF).
- Blocking or altering specific NLG sites in VWF disrupts its secretion, with certain mutations leading to significant reductions in expression.
- Mutations at specific sites caused VWF to be retained in the endoplasmic reticulum, produced fewer storage bodies, and increased free thiol reactivity, highlighting the importance of NLGs for VWF functioning.