Complex genetic signatures in immune cells underlie autoimmunity and inform therapy

V Orrù, M Steri, C Sidore, M Marongiu, V Serra, S Olla… - Nature …, 2020 - nature.com
We report on the influence of~ 22 million variants on 731 immune cell traits in a cohort of
3,757 Sardinians. We detected 122 significant (P< 1.28× 10− 11) independent association …

[HTML][HTML] Integrating autoimmune risk loci with gene-expression data identifies specific pathogenic immune cell subsets

X Hu, H Kim, E Stahl, R Plenge, M Daly… - The American Journal of …, 2011 - cell.com
Although genome-wide association studies have implicated many individual loci in complex
diseases, identifying the exact causal alleles and the cell types within which they act …

Detecting shared pathogenesis from the shared genetics of immune-related diseases

A Zhernakova, CC Van Diemen… - Nature Reviews Genetics, 2009 - nature.com
Recent genetic studies have revealed shared immunological mechanisms in several
immune-related disorders that further our understanding of the development and …

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] Dynamic landscape of immune cell-specific gene regulation in immune-mediated diseases

M Ota, Y Nagafuchi, H Hatano, K Ishigaki, C Terao… - Cell, 2021 - cell.com
Genetic studies have revealed many variant loci that are associated with immune-mediated
diseases. To elucidate the disease pathogenesis, it is essential to understand the function of …

[HTML][HTML] Differential effects of environmental and genetic factors on T and B cell immune traits

R Aguirre-Gamboa, I Joosten, PCM Urbano… - Cell reports, 2016 - cell.com
Effective immunity requires a complex network of cellular and humoral components that
interact with each other and are influenced by different environmental and host factors. We …

Genetics of autoimmune diseases: perspectives from genome-wide association studies

Y Kochi - International immunology, 2016 - academic.oup.com
Genome-wide association studies (GWASs) for autoimmune diseases (ADs) have identified
many risk loci and have provided insights into the etiology of each disease. Some of these …

[HTML][HTML] Emerging patterns of genetic overlap across autoimmune disorders

C Richard-Miceli, LA Criswell - Genome medicine, 2012 - Springer
Most of the recently identified autoimmunity loci are shared among multiple autoimmune
diseases. The pattern of genetic association with autoimmune phenotypes varies …

[HTML][HTML] Human immunology through the lens of evolutionary genetics

L Quintana-Murci - Cell, 2019 - cell.com
Pathogen-imposed selection pressures have been paramount during human evolution.
Detecting such selection signatures in ancient and modern human genomes can thus help …

[HTML][HTML] Genetic drivers of epigenetic and transcriptional variation in human immune cells

L Chen, B Ge, FP Casale, L Vasquez, T Kwan… - Cell, 2016 - cell.com
Characterizing the multifaceted contribution of genetic and epigenetic factors to disease
phenotypes is a major challenge in human genetics and medicine. We carried out high …