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 …

Recent advances in polygenic scores: translation, equitability, methods and FAIR tools

R Xiang, M Kelemen, Y Xu, LW Harris, H Parkinson… - Genome Medicine, 2024 - Springer
Polygenic scores (PGS) can be used for risk stratification by quantifying individuals' genetic
predisposition to disease, and many potentially clinically useful applications have been …

[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 …

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 …

Global impact of unproductive splicing on human gene expression

B Fair, CF Buen Abad Najar, J Zhao, S Lozano… - Nature Genetics, 2024 - nature.com
Alternative splicing (AS) in human genes is widely viewed as a mechanism for enhancing
proteomic diversity. AS can also impact gene expression levels without increasing protein …

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 …

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 …

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 …

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 …

Identification of potential drug targets for rheumatoid arthritis from genetic insights: a Mendelian randomization study

Y Cao, Y Yang, Q Hu, G Wei - Journal of translational medicine, 2023 - Springer
Introduction Rheumatoid arthritis (RA) is a chronic inflammatory illness that mostly affects the
joints of the hands and feet and can reduce life expectancy by an average of 3 to 10 years …