Update on NAFLD genetics: from new variants to the clinic

E Trépo, L Valenti - Journal of hepatology, 2020 - Elsevier
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 …

Primary biliary cholangitis

A Lleo, GQ Wang, ME Gershwin, GM Hirschfield - The Lancet, 2020 - thelancet.com
Primary biliary cholangitis is an autoimmune liver disease that predominantly affects women.
It is characterised by a chronic and destructive, small bile duct, granulomatous lymphocytic …

[PDF][PDF] A single-cell atlas of chromatin accessibility in the human genome

K Zhang, JD Hocker, M Miller, X Hou, J Chiou… - Cell, 2021 - cell.com
Current catalogs of regulatory sequences in the human genome are still incomplete and lack
cell type resolution. To profile the activity of gene regulatory elements in diverse cell types …

Interpreting type 1 diabetes risk with genetics and single-cell epigenomics

J Chiou, RJ Geusz, ML Okino, JY Han, M Miller… - Nature, 2021 - nature.com
Genetic risk variants that have been identified in genome-wide association studies of
complex diseases are primarily non-coding. Translating these risk variants into mechanistic …

[PDF][PDF] Primary biliary cholangitis: 2018 practice guidance from the American Association for the Study of Liver Diseases

KD Lindor, CL Bowlus, J Boyer, C Levy, M Mayo - Hepatology, 2019 - Wiley Online Library
This American Association for the Study of Liver Diseases (AASLD) 2018 Practice Guidance
on Primary Biliary Cholangitis (PBC) is an update of the PBC guidelines published in 2009 …

[HTML][HTML] Genome-wide association study of non-alcoholic fatty liver and steatohepatitis in a histologically characterised cohort☆

QM Anstee, R Darlay, S Cockell, M Meroni… - Journal of …, 2020 - Elsevier
Background & Aims Genetic factors associated with non-alcoholic fatty liver disease
(NAFLD) remain incompletely understood. To date, most genome-wide association studies …

The MR-Base platform supports systematic causal inference across the human phenome

G Hemani, J Zheng, B Elsworth, KH Wade… - elife, 2018 - elifesciences.org
Results from genome-wide association studies (GWAS) can be used to infer causal
relationships between phenotypes, using a strategy known as 2-sample Mendelian …

Elevated C-reactive protein in patients with depression, independent of genetic, health, and psychosocial factors: results from the UK Biobank

MC Pitharouli, SP Hagenaars… - American Journal of …, 2021 - Am Psychiatric Assoc
Objective: The authors investigated the pathways (genetic, environmental, lifestyle, medical)
leading to inflammation in major depressive disorder using C-reactive protein (CRP) …

EASL Clinical Practice Guidelines: The diagnosis and management of patients with primary biliary cholangitis

GM Hirschfield, U Beuers, C Corpechot, P Invernizzi… - Journal of …, 2017 - Elsevier
Primary biliary cholangitis (PBC) is a chronic inflammatory autoimmune cholestatic liver
disease, which when untreated will culminate in end-stage biliary cirrhosis. Diagnosis is …

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

HK Finucane, YA Reshef, V Anttila, K Slowikowski… - Nature …, 2018 - nature.com
We introduce an approach to identify disease-relevant tissues and cell types by analyzing
gene expression data together with genome-wide association study (GWAS) summary …