Deconstructing a syndrome: genomic insights into PCOS causal mechanisms and classification
Polycystic ovary syndrome (PCOS) is among the most common disorders in women of
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …
The immunobiology and pathogenesis of celiac disease
Among human leukocyte antigen (HLA)-associated disorders, celiac disease has an
immunopathogenesis that is particularly well understood. The condition is characterized by …
immunopathogenesis that is particularly well understood. The condition is characterized by …
Causal relationship between gut microbiota and autoimmune diseases: a two-sample Mendelian randomization study
Q Xu, JJ Ni, BX Han, SS Yan, XT Wei, GJ Feng… - Frontiers in …, 2022 - frontiersin.org
Background Growing evidence has shown that alterations in gut microbiota composition are
associated with multiple autoimmune diseases (ADs). However, it is unclear whether these …
associated with multiple autoimmune diseases (ADs). However, it is unclear whether these …
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 …
The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019
A Buniello, JAL MacArthur, M Cerezo… - Nucleic acids …, 2019 - academic.oup.com
The GWAS Catalog delivers a high-quality curated collection of all published genome-wide
association studies enabling investigations to identify causal variants, understand disease …
association studies enabling investigations to identify causal variants, understand disease …
Evaluating the potential role of pleiotropy in Mendelian randomization studies
Pleiotropy, the phenomenon of a single genetic variant influencing multiple traits, is likely
widespread in the human genome. If pleiotropy arises because the single nucleotide …
widespread in the human genome. If pleiotropy arises because the single nucleotide …
[HTML][HTML] A global reference for human genetic variation
1000 Genomes Project Consortium - Nature, 2015 - ncbi.nlm.nih.gov
Abstract The 1000 Genomes Project set out to provide a comprehensive description of
common human genetic variation by applying whole-genome sequencing to a diverse set of …
common human genetic variation by applying whole-genome sequencing to a diverse set of …
Coeliac disease
Coeliac disease is an immune-mediated enteropathy against dietary gluten present in
wheat, rye and barley and is one of the most common lifelong food-related disorders …
wheat, rye and barley and is one of the most common lifelong food-related disorders …
Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci
We simultaneously investigated the genetic landscape of ankylosing spondylitis, Crohn's
disease, psoriasis, primary sclerosing cholangitis and ulcerative colitis to investigate …
disease, psoriasis, primary sclerosing cholangitis and ulcerative colitis to investigate …
Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation
B Soskic, E Cano-Gamez, DJ Smyth, K Ambridge… - Nature …, 2022 - nature.com
During activation, T cells undergo extensive gene expression changes that shape the
properties of cells to exert their effector function. Understanding the regulation of this …
properties of cells to exert their effector function. Understanding the regulation of this …