Deconstructing a syndrome: genomic insights into PCOS causal mechanisms and classification

M Dapas, A Dunaif - Endocrine reviews, 2022 - academic.oup.com
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 …

The immunobiology and pathogenesis of celiac disease

R Iversen, LM Sollid - Annual Review of Pathology: Mechanisms …, 2023 - annualreviews.org
Among human leukocyte antigen (HLA)-associated disorders, celiac disease has an
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 …

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 …

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 …

Evaluating the potential role of pleiotropy in Mendelian randomization studies

G Hemani, J Bowden… - Human molecular …, 2018 - academic.oup.com
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 …

[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 …

Coeliac disease

K Lindfors, C Ciacci, K Kurppa, KEA Lundin… - Nature reviews Disease …, 2019 - nature.com
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 …

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci

D Ellinghaus, L Jostins, SL Spain, A Cortes… - Nature …, 2016 - nature.com
We simultaneously investigated the genetic landscape of ankylosing spondylitis, Crohn's
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 …