The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases

AJ Alsheikh, S Wollenhaupt, EA King, J Reeb… - BMC medical …, 2022 - Springer
Background The remarkable growth of genome-wide association studies (GWAS) has
created a critical need to experimentally validate the disease-associated variants, 90% of …

Systemic lupus erythematosus genetics: insights into pathogenesis and implications for therapy

Y Ghodke-Puranik, M Olferiev, MK Crow - Nature Reviews …, 2024 - nature.com
Systemic lupus erythematosus (SLE) is a prime example of how the interplay between
genetic and environmental factors can trigger systemic autoimmunity, particularly in young …

Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus

X Yin, K Kim, H Suetsugu, SY Bang, L Wen… - Annals of the …, 2021 - ard.bmj.com
Objective Systemic lupus erythematosus (SLE), an autoimmune disorder, has been
associated with nearly 100 susceptibility loci. Nevertheless, these loci only partially explain …

3D genome organization and epigenetic regulation in autoimmune diseases

Y Qiu, D Feng, W Jiang, T Zhang, Q Lu… - Frontiers in …, 2023 - frontiersin.org
Three-dimensional (3D) genomics is an emerging field of research that investigates the
relationship between gene regulatory function and the spatial structure of chromatin …

Systemic lupus erythematosus variants modulate the function of an enhancer upstream of TNFAIP3

S Pasula, J Gopalakrishnan, Y Fu, KL Tessneer… - Frontiers in …, 2022 - frontiersin.org
TNFAIP3/A20 is a prominent autoimmune disease risk locus that is correlated with
hypomorphic TNFAIP3 expression and exhibits complex chromatin architecture with over 30 …

Differentiated embryonic chondrocyte expressed gene-1 is a central signaling component in the development of collagen-induced rheumatoid arthritis

Y Wu, H Wang, Y Huo, B Yan, H Honda, W Liu… - Journal of Biological …, 2023 - ASBMB
Rheumatoid arthritis (RA) is one of the most common autoimmune diseases and affects
almost 1% of the population. Differentiated embryo-chondrocyte expressed gene-1 (DEC1) …

Non-coding DNA variants for risk in lupus

Y Zhang, G Hou, N Shen - Best Practice & Research Clinical Rheumatology, 2024 - Elsevier
Abstract Systemic Lupus Erythematosus (SLE) is a multifactorial autoimmune disease that
arises from a dynamic interplay between genetics and environmental triggers. The advent of …

Approaching shared pathophysiology in immune-mediated diseases through functional genomics

D González-Serna, G Villanueva-Martin… - Genes, 2020 - mdpi.com
Immune-mediated diseases (IMDs) are complex pathologies that are strongly influenced by
environmental and genetic factors. Associations between genetic loci and susceptibility to …

Epigenetics of lupus

N Shen, R Wang, Y Tang, G Hou, Y Shen… - … and Related Syndromes, 2025 - Elsevier
For a long time, genetic variations have been considered primary risk factors predisposing to
systemic lupus erythematosus (SLE). However, alterations of DNA sequence in the genome …

Meta-analysis of 208,370 East Asians identifies 113 genomic loci and yields new non-immune cell relevant biological insights for systemic lupus erythematosus

X Yin, K Kim, H Suetsugu, SY Bang, L Wen, M Koido… - medRxiv, 2020 - medrxiv.org
Systemic lupus erythematosus (SLE), an autoimmune disorder, has been associated with
nearly 100 susceptibility loci-. Nevertheless, these loci only partially explain SLE heritability …