Publications by authors named "Darren B Day"
Unlabelled: 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 study was to use a national patient cohort of 2,353 patients recruited from all clinical centers in the UK to explore the impact of disease on perceived life quality. Clinical data regarding diagnosis, therapy, and biochemical status were collected and have been reported previously.
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- Liver transplantation significantly improves survival in patients with end-stage primary biliary cirrhosis (PBC), but its impact on systemic symptoms like fatigue remains unclear.
- A study involving 380 post-transplant patients and 2300 non-transplanted patients indicated that younger patients and those with advanced disease at diagnosis are more likely to undergo transplantation.
- The findings showed no improvement in systemic symptoms after transplantation for female patients, while male patients experienced worse symptoms post-transplant; highlighting a need for better rehabilitation strategies to enhance quality of life after the procedure.
Unlabelled: BACKGROUND, & AIMS: Studies of primary biliary cirrhosis (PBC) phenotypes largely have been performed using small and selected populations. Study size has precluded investigation of important disease subgroups, such as men and young patients. We used a national patient cohort to obtain a better picture of PBC phenotypes.
View Article and Find Full Text PDFWe 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 loci. We identified 3 loci newly associated with PBC (at P<5×10(-8)), increasing the number of known susceptibility loci to 25. The most associated variant at 19p12 is a low-frequency nonsynonymous SNP in TYK2, further implicating JAK-STAT and cytokine signaling in disease pathogenesis.
View Article and Find Full Text PDFIn 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, we carried out a GWAS using 1,840 cases from the UK PBC Consortium and 5,163 UK population controls as part of the Wellcome Trust Case Control Consortium 3 (WTCCC3). We followed up 28 loci in an additional UK cohort of 620 PBC cases and 2,514 population controls.
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