Complex genetic signatures in immune cells underlie autoimmunity and inform therapy
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 …
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
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 …
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 …
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
Genome-wide association studies (GWASs) have uncovered hundreds of autoimmune
disease-associated loci; however, the causal genetic variants within each locus are mostly …
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
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 …
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
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 …
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 …
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 …
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 …
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
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 …
phenotypes is a major challenge in human genetics and medicine. We carried out high …