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 …

From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases

E Cano-Gamez, G Trynka - Frontiers in genetics, 2020 - frontiersin.org
Genome-wide association studies (GWAS) have successfully mapped thousands of loci
associated with complex traits. These associations could reveal the molecular mechanisms …

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 …

Interpreting type 1 diabetes risk with genetics and single-cell epigenomics

J Chiou, RJ Geusz, ML Okino, JY Han, M Miller… - Nature, 2021 - nature.com
Genetic risk variants that have been identified in genome-wide association studies of
complex diseases are primarily non-coding. Translating these risk variants into mechanistic …

Pseudouridine synthases modify human pre-mRNA co-transcriptionally and affect pre-mRNA processing

NM Martinez, A Su, MC Burns, JK Nussbacher… - Molecular cell, 2022 - cell.com
Pseudouridine is a modified nucleotide that is prevalent in human mRNAs and is
dynamically regulated. Here, we investigate when in their life cycle mRNAs become …

Elevated C-reactive protein in patients with depression, independent of genetic, health, and psychosocial factors: results from the UK Biobank

MC Pitharouli, SP Hagenaars… - American Journal of …, 2021 - Am Psychiatric Assoc
Objective: The authors investigated the pathways (genetic, environmental, lifestyle, medical)
leading to inflammation in major depressive disorder using C-reactive protein (CRP) …

Revisiting IL-2: Biology and therapeutic prospects

AK Abbas, E Trotta, D R. Simeonov, A Marson… - Science …, 2018 - science.org
Interleukin-2 (IL-2), the first cytokine that was molecularly cloned, was shown to be a T cell
growth factor essential for the proliferation of T cells and the generation of effector and …

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

HK Finucane, YA Reshef, V Anttila, K Slowikowski… - Nature …, 2018 - nature.com
We introduce an approach to identify disease-relevant tissues and cell types by analyzing
gene expression data together with genome-wide association study (GWAS) summary …

Lineage-specific genome architecture links enhancers and non-coding disease variants to target gene promoters

BM Javierre, OS Burren, SP Wilder, R Kreuzhuber… - Cell, 2016 - cell.com
Long-range interactions between regulatory elements and gene promoters play key roles in
transcriptional regulation. The vast majority of interactions are uncharted, constituting a …

Fine-mapping inflammatory bowel disease loci to single-variant resolution

H Huang, M Fang, L Jostins, M Umićević Mirkov… - Nature, 2017 - nature.com
Inflammatory bowel diseases are chronic gastrointestinal inflammatory disorders that affect
millions of people worldwide. Genome-wide association studies have identified 200 …