The immunology of rheumatoid arthritis

CM Weyand, JJ Goronzy - Nature immunology, 2021 - nature.com
The immunopathogenesis of rheumatoid arthritis (RA) spans decades, beginning with the
production of autoantibodies against post-translationally modified proteins (checkpoint 1) …

Autoimmune diseases—connecting risk alleles with molecular traits of the immune system

M Gutierrez-Arcelus, SS Rich… - Nature Reviews …, 2016 - nature.com
Genome-wide strategies have driven the discovery of more than 300 susceptibility loci for
autoimmune diseases. However, for almost all loci, understanding of the mechanisms …

Single-cell RNA-sequencing of peripheral blood mononuclear cells reveals widespread, context-specific gene expression regulation upon pathogenic exposure

R Oelen, DH de Vries, H Brugge, MG Gordon… - Nature …, 2022 - nature.com
The host's gene expression and gene regulatory response to pathogen exposure can be
influenced by a combination of the host's genetic background, the type of and exposure time …

Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits

F Hormozdiari, S Gazal, B Van De Geijn, HK Finucane… - Nature …, 2018 - nature.com
There is increasing evidence that many risk loci found using genome-wide association
studies are molecular quantitative trait loci (QTLs). Here we introduce a new set of functional …

Methods and insights from single-cell expression quantitative trait loci

JB Kang, A Raveane, A Nathan… - Annual review of …, 2023 - annualreviews.org
Recent advancements in single-cell technologies have enabled expression quantitative trait
locus (eQTL) analysis across many individuals at single-cell resolution. Compared with bulk …

Update on the genetic architecture of rheumatoid arthritis

K Kim, SY Bang, HS Lee, SC Bae - Nature Reviews Rheumatology, 2017 - nature.com
Human genetic studies into rheumatoid arthritis (RA) have uncovered more than 100 genetic
loci associated with susceptibility to RA and have refined the RA-association model for HLA …

Allele-specific expression changes dynamically during T cell activation in HLA and other autoimmune loci

M Gutierrez-Arcelus, Y Baglaenko, J Arora, S Hannes… - Nature …, 2020 - nature.com
Genetic studies have revealed that autoimmune susceptibility variants are over-represented
in memory CD4+ T cell regulatory elements,–. Understanding how genetic variation affects …

Chromatin activity at GWAS loci identifies T cell states driving complex immune diseases

B Soskic, E Cano-Gamez, DJ Smyth, WC Rowan… - Nature …, 2019 - nature.com
Immune-disease-associated variants are enriched in active chromatin regions of T cells and
macrophages. However, whether these variants function in specific cell states is unknown …

Genetic basis of autoimmunity

A Marson, WJ Housley, DA Hafler - The Journal of clinical …, 2015 - Am Soc Clin Investig
Autoimmune diseases affect up to approximately 10% of the population. While rare
Mendelian autoimmunity syndromes can result from monogenic mutations disrupting …

The importance of differences; On environment and its interactions with genes and immunity in the causation of rheumatoid arthritis

L Klareskog, J Rönnelid, S Saevarsdottir… - Journal of internal …, 2020 - Wiley Online Library
The current review uses rheumatoid arthritis (RA) as a prominent example for how studies
on the interplay between environmental and genetic factors in defined subsets of a disease …