Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis

…, D Van Heel, E Björnsson, RN Sandford… - Nature …, 2013 - nature.com
Primary sclerosing cholangitis (PSC) is a severe liver disease of unknown etiology leading to
fibrotic destruction of the bile ducts and ultimately to the need for liver transplantation 1 , 2 , …

Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis

…, DE Jones, L Peltonen, GJ Alexander, RN Sandford… - Nature …, 2011 - nature.com
In addition to the HLA locus, six genetic risk factors for primary biliary cirrhosis (PBC) have
been identified in recent genome-wide association studies (GWAS). To identify additional loci, …

[PDF][PDF] The UK‐PBC risk scores: derivation and validation of a scoring system for long‐term prediction of end‐stage liver disease in primary biliary cholangitis

…, GJ Alexander, DEJ Jones, RN Sandford… - …, 2016 - Wiley Online Library
The biochemical response to ursodeoxycholic acid (UDCA)—so‐called “treatment response”—strongly
predicts long‐term outcome in primary biliary cholangitis (PBC). Several long‐…

Sex and age are determinants of the clinical phenotype of primary biliary cirrhosis and response to ursodeoxycholic acid

…, JM Neuberger, DB Day, SJ Ducker, RN Sandford… - Gastroenterology, 2013 - Elsevier
BACKGROUND, & AIMS: Studies of primary biliary cirrhosis (PBC) phenotypes largely have
been performed using small and selected populations. Study size has precluded …

Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease

…, MP Manns, B Srivastava, G Mells, RN Sandford… - Nature …, 2017 - nature.com
Primary sclerosing cholangitis (PSC) is a rare progressive disorder leading to bile duct
destruction; ∼75% of patients have comorbid inflammatory bowel disease (IBD). We undertook …

[HTML][HTML] International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways

…, P Invernizzi, MF Seldin, RN Sandford… - Nature …, 2015 - nature.com
Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective
immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets …

Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis

…, RN Sandford… - Nature …, 2012 - nature.com
We genotyped 2,861 cases of primary biliary cirrhosis (PBC) from the UK PBC Consortium
and 8,514 UK population controls across 196,524 variants within 186 known autoimmune risk …

[PDF][PDF] Impact of primary biliary cirrhosis on perceived quality of life: the UK‐PBC national study

…, JM Neuberger, DB Day, SJ Ducker, RN Sandford… - …, 2013 - Wiley Online Library
Primary biliary cirrhosis (PBC) has a complex clinical phenotype, with debate about the extent
and specificity of frequently described systemic symptoms such as fatigue. The aim of this …

[HTML][HTML] Pretreatment prediction of response to ursodeoxycholic acid in primary biliary cholangitis: development and validation of the UDCA Response Score

…, GJ Alexander, RN Sandford… - The Lancet …, 2018 - thelancet.com
Background Treatment guidelines recommend a stepwise approach to primary biliary cholangitis:
all patients begin treatment with ursodeoxycholic acid (UDCA) monotherapy and those …

[HTML][HTML] An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs

…, A Spicer, VL Mulcahy, J Byan, Y Han, RN Sandford… - Journal of …, 2021 - Elsevier
Backgrounds & Aims Primary biliary cholangitis (PBC) is a chronic liver disease in which
autoimmune destruction of the small intrahepatic bile ducts eventually leads to cirrhosis. Many …