Genetics of rheumatoid arthritis

L Padyukov - Seminars in immunopathology, 2022 - Springer
Rheumatoid arthritis (RA) is an inflammatory autoimmune disease involving symmetric joints
and is generally characterized by persistent pain, tenderness, and destruction of joints. The …

JAK inhibitors for rheumatoid arthritis

S Kubo, S Nakayamada, Y Tanaka - Expert Opinion on …, 2023 - Taylor & Francis
Introduction JAK (Janus kinase) is a type of non-receptor tyrosine kinase that includes JAK1,
JAK2, JAK3, and Tyk2. Currently, there are five JAK inhibitors approved for treating …

[HTML][HTML] Deconstruction of rheumatoid arthritis synovium defines inflammatory subtypes

F Zhang, AH Jonsson, A Nathan, N Millard, M Curtis… - Nature, 2023 - nature.com
Rheumatoid arthritis is a prototypical autoimmune disease that causes joint inflammation
and destruction. There is currently no cure for rheumatoid arthritis, and the effectiveness of …

[PDF][PDF] Meta-analysis fine-mapping is often miscalibrated at single-variant resolution

M Kanai, R Elzur, W Zhou, KHH Wu, H Rasheed… - Cell Genomics, 2022 - cell.com
Meta-analysis is pervasively used to combine multiple genome-wide association studies
(GWASs). Fine-mapping of meta-analysis studies is typically performed as in a single-cohort …

Elevated genetic risk for multiple sclerosis emerged in steppe pastoralist populations

W Barrie, Y Yang, EK Irving-Pease, KE Attfield… - Nature, 2024 - nature.com
Multiple sclerosis (MS) is a neuro-inflammatory and neurodegenerative disease that is most
prevalent in Northern Europe. Although it is known that inherited risk for MS is located within …

Dynamic regulatory elements in single-cell multimodal data implicate key immune cell states enriched for autoimmune disease heritability

A Gupta, K Weinand, A Nathan, S Sakaue, MJ Zhang… - Nature …, 2023 - nature.com
In autoimmune diseases such as rheumatoid arthritis, the immune system attacks the body's
own cells. Developing a precise understanding of the cell states where noncoding …

Tissue-specific enhancer–gene maps from multimodal single-cell data identify causal disease alleles

S Sakaue, K Weinand, S Isaac, KK Dey, K Jagadeesh… - Nature …, 2024 - nature.com
Translating genome-wide association study (GWAS) loci into causal variants and genes
requires accurate cell-type-specific enhancer–gene maps from disease-relevant tissues …

Non-coding autoimmune risk variant defines role for ICOS in T peripheral helper cell development

T Kim, M Martínez-Bonet, Q Wang, N Hackert… - Nature …, 2024 - nature.com
Fine-mapping and functional studies implicate rs117701653, a non-coding single nucleotide
polymorphism in the CD28/CTLA4/ICOS locus, as a risk variant for rheumatoid arthritis and …

The chromatin landscape of pathogenic transcriptional cell states in rheumatoid arthritis

K Weinand, S Sakaue, A Nathan, AH Jonsson… - Nature …, 2024 - nature.com
Synovial tissue inflammation is a hallmark of rheumatoid arthritis (RA). Recent work has
identified prominent pathogenic cell states in inflamed RA synovial tissue, such as T …

[HTML][HTML] The autoimmune tautology revisited

JM Anaya, S Beltrán - Journal of Translational Autoimmunity, 2023 - ncbi.nlm.nih.gov
Autoimmune diseases (ADs) have a common pathophysiological mechanism as a
consequence of sharing genetic and environmental factors, as well as similar clinical …