Co-occurring expression and methylation QTLs allow detection of common causal variants and shared biological mechanisms
Inherited genetic variation affects local gene expression and DNA methylation in humans.
Most expression quantitative trait loci (cis-eQTLs) occur at the same genomic location as a …
Most expression quantitative trait loci (cis-eQTLs) occur at the same genomic location as a …
High‐Resolution Exposomics and Metabolomics Reveals Specific Associations in Cholestatic Liver Diseases
DI Walker, BD Juran, AC Cheung… - Hepatology …, 2022 - journals.lww.com
Progress in development of prognostic and therapeutic options for the rare cholestatic liver
diseases, primary sclerosing cholangitis (PSC) and primary biliary cholangitis (PBC), is …
diseases, primary sclerosing cholangitis (PSC) and primary biliary cholangitis (PBC), is …
[PDF][PDF] Large-scale exome-wide association analysis identifies loci for white blood cell traits and pleiotropy with immune-mediated diseases
SM Tajuddin, UM Schick, JD Eicher, N Chami… - The American Journal of …, 2016 - cell.com
White blood cells play diverse roles in innate and adaptive immunity. Genetic association
analyses of phenotypic variation in circulating white blood cell (WBC) counts from large …
analyses of phenotypic variation in circulating white blood cell (WBC) counts from large …
Evolution of our understanding of PBC
A Tanaka, PSC Leung, ME Gershwin - Best Practice & Research Clinical …, 2018 - Elsevier
The discovery of mitochondrial autoantigens recognized by antimitochondrial antibodies
(AMAs) in 1987 marked the dawn of a new era in primary biliary cholangitis (PBC) research …
(AMAs) in 1987 marked the dawn of a new era in primary biliary cholangitis (PBC) research …
Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility
Several susceptibility loci for classical Hodgkin lymphoma have been reported. However,
much of the heritable risk is unknown. Here, we perform a meta-analysis of two existing …
much of the heritable risk is unknown. Here, we perform a meta-analysis of two existing …
The genetics of primary biliary cholangitis
A Tanaka, PSC Leung… - Current opinion in …, 2019 - journals.lww.com
Patients with PBC are often asymptomatic and often left undiagnosed. There are no known
HLA and non-HLA alleles specific for PBC. Global effort and novel approaches such as …
HLA and non-HLA alleles specific for PBC. Global effort and novel approaches such as …
Genetics and functional genomics of multiple sclerosis
W Kim, NA Patsopoulos - Seminars in Immunopathology, 2022 - Springer
Multiple sclerosis (MS) is an inflammatory neurodegenerative disease with genetic
predisposition. Over the last decade, genome-wide association studies with increasing …
predisposition. Over the last decade, genome-wide association studies with increasing …
Chronic autoimmune epithelitis in Sjögren's syndrome and primary biliary cholangitis: a comprehensive review
C Selmi, ME Gershwin - Rheumatology and therapy, 2017 - Springer
Within the spectrum of autoimmune diseases, Sjögren's syndrome and primary biliary
cholangitis are exemplary and can be coined as chronic epithelitis based on their frequent …
cholangitis are exemplary and can be coined as chronic epithelitis based on their frequent …
Bayesian weighted Mendelian randomization for causal inference based on summary statistics
Abstract Motivation The results from Genome-Wide Association Studies (GWAS) on
thousands of phenotypes provide an unprecedented opportunity to infer the causal effect of …
thousands of phenotypes provide an unprecedented opportunity to infer the causal effect of …
Genetics and epigenetics in the pathogenesis of primary biliary cholangitis
Primary biliary cholangitis (PBC) is a chronic, slowly progressive cholestatic autoimmune
liver disease predominantly afflicting women. PBC is characterized by the presence of …
liver disease predominantly afflicting women. PBC is characterized by the presence of …