[HTML][HTML] Polygenic autoimmune disease risk alleles impacting B cell tolerance act in concert across shared molecular networks in mouse and in humans

ITW Harley, K Allison, RH Scofield - Frontiers in immunology, 2022 - frontiersin.org
Most B cells produced in the bone marrow have some level of autoreactivity. Despite efforts
of central tolerance to eliminate these cells, many escape to periphery, where in healthy …

B cells take the front seat: dysregulated B cell signals orchestrate loss of tolerance and autoantibody production

SW Jackson, NS Kolhatkar, DJ Rawlings - Current opinion in immunology, 2015 - Elsevier
A significant proportion of autoimmune-associated genetic variants are expressed in B cells,
suggesting that B cells may play multiple roles in autoimmune pathogenesis. In this review …

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 …

Common genetic factors among autoimmune diseases

A Harroud, DA Hafler - Science, 2023 - science.org
Autoimmune diseases display a high degree of comorbidity within individuals and families,
suggesting shared risk factors. Over the past 15 years, genome-wide association studies …

[HTML][HTML] Human genetics offers an emerging picture of common pathways and mechanisms in autoimmunity

BF Voight, C Cotsapas - Current opinion in immunology, 2012 - Elsevier
In genetic studies of autoimmune and inflammatory diseases, one clear finding that has
emerged from genome-wide association studies is that a substantial fraction of variation …

[HTML][HTML] 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 …

[HTML][HTML] Unraveling the genetics of autoimmunity

LA Zenewicz, C Abraham, RA Flavell, JH Cho - Cell, 2010 - cell.com
The chronic autoimmune diseases include multiple complex genetic disorders. Recently,
genome-wide association studies (GWAS) have identified a large number of major loci, with …

Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells

K Mouri, MH Guo, CG de Boer, MM Lissner, IA Harten… - Nature …, 2022 - nature.com
Genome-wide association studies (GWASs) have uncovered hundreds of autoimmune
disease-associated loci; however, the causal genetic variants within each locus are mostly …

[HTML][HTML] Untangling associations between immunoglobulin genotypes, repertoires and function

XC Dopico, M Mandolesi, GBK Hedestam - Immunology Letters, 2023 - Elsevier
Immunoglobulin (IG) genes, encoding B cell receptors (BCRs), are fundamental components
of the mammalian immune system, which evolved to recognize the diverse antigenic …

Genetics of human autoimmunity: From genetic information to functional insights

K Ishigaki, Y Kochi, K Yamamoto - Clinical Immunology, 2018 - Elsevier
Genome-wide association studies have identified hundreds of risk variants associated with
human autoimmune diseases. Recent evidence suggests that a substantial portion of them …