Update on NAFLD genetics: from new variants to the clinic
Non-alcoholic fatty liver disease (NAFLD) is the leading cause of liver diseases in high-
income countries and the burden of NAFLD is increasing at an alarming rate. The risk of …
income countries and the burden of NAFLD is increasing at an alarming rate. The risk of …
[HTML][HTML] Primary sclerosing cholangitis–a comprehensive review
TH Karlsen, T Folseraas, D Thorburn, M Vesterhus - Journal of hepatology, 2017 - Elsevier
Primary sclerosing cholangitis (PSC) is a rare disorder characterised by multi-focal bile duct
strictures and progressive liver disease. Inflammatory bowel disease is usually present and …
strictures and progressive liver disease. Inflammatory bowel disease is usually present and …
AASLD practice guidance on primary sclerosing cholangitis and cholangiocarcinoma
Abbreviations: AASLD, American Association for the Study of Liver Diseases; AIH,
autoimmune hepatitis; ALP, alkaline phosphatase; ASIR, age standardized incidence rate; …
autoimmune hepatitis; ALP, alkaline phosphatase; ASIR, age standardized incidence rate; …
Complex genetic signatures in immune cells underlie autoimmunity and inform therapy
We report on the influence of~ 22 million variants on 731 immune cell traits in a cohort of
3,757 Sardinians. We detected 122 significant (P< 1.28× 10− 11) independent association …
3,757 Sardinians. We detected 122 significant (P< 1.28× 10− 11) independent association …
Primary sclerosing cholangitis
Primary sclerosing cholangitis is a rare, chronic cholestatic liver disease characterised by
intrahepatic or extrahepatic stricturing, or both, with bile duct fibrosis. Inflammation and …
intrahepatic or extrahepatic stricturing, or both, with bile duct fibrosis. Inflammation and …
Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci
We simultaneously investigated the genetic landscape of ankylosing spondylitis, Crohn's
disease, psoriasis, primary sclerosing cholangitis and ulcerative colitis to investigate …
disease, psoriasis, primary sclerosing cholangitis and ulcerative colitis to investigate …
Genetic and epigenetic fine mapping of causal autoimmune disease variants
Genome-wide association studies have identified loci underlying human diseases, but the
causal nucleotide changes and mechanisms remain largely unknown. Here we developed a …
causal nucleotide changes and mechanisms remain largely unknown. Here we developed a …
Patient age, sex, and inflammatory bowel disease phenotype associate with course of primary sclerosing cholangitis
Background & Aims Primary sclerosing cholangitis (PSC) is an orphan hepatobiliary
disorder associated with inflammatory bowel disease (IBD). We aimed to estimate the risk of …
disorder associated with inflammatory bowel disease (IBD). We aimed to estimate the risk of …
Primary sclerosing cholangitis is characterised by intestinal dysbiosis independent from IBD
J Sabino, S Vieira-Silva, K Machiels, M Joossens… - Gut, 2016 - gut.bmj.com
Objective Primary sclerosing cholangitis (PSC) is a chronic cholestatic liver disease often
leading to end-stage liver disease. Its pathogenesis remains largely unknown, although …
leading to end-stage liver disease. Its pathogenesis remains largely unknown, although …
Genetics of inflammatory bowel diseases
DPB McGovern, S Kugathasan, JH Cho - Gastroenterology, 2015 - Elsevier
In this review, we provide an update on genome-wide association studies (GWAS) in
inflammatory bowel disease (IBD). In addition, we summarize progress in defining the …
inflammatory bowel disease (IBD). In addition, we summarize progress in defining the …