Co-occurring expression and methylation QTLs allow detection of common causal variants and shared biological mechanisms

BL Pierce, L Tong, M Argos, K Demanelis… - Nature …, 2018 - nature.com
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 …

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 …

[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 …

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 …

Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility

A Sud, H Thomsen, PJ Law, A Försti, MIS Filho… - Nature …, 2017 - nature.com
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 …

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 …

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 …

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 …

Bayesian weighted Mendelian randomization for causal inference based on summary statistics

J Zhao, J Ming, X Hu, G Chen, J Liu, C Yang - Bioinformatics, 2020 - academic.oup.com
Abstract Motivation The results from Genome-Wide Association Studies (GWAS) on
thousands of phenotypes provide an unprecedented opportunity to infer the causal effect of …

Genetics and epigenetics in the pathogenesis of primary biliary cholangitis

S Joshita, T Umemura, E Tanaka, M Ota - Clinical Journal of …, 2018 - Springer
Primary biliary cholangitis (PBC) is a chronic, slowly progressive cholestatic autoimmune
liver disease predominantly afflicting women. PBC is characterized by the presence of …