Pathway paradigms revealed from the genetics of inflammatory bowel disease

DB Graham, RJ Xavier - Nature, 2020 - nature.com
Inflammatory bowel disease (IBD) is a complex genetic disease that is instigated and
amplified by the confluence of multiple genetic and environmental variables that perturb the …

Third European evidence-based consensus on diagnosis and management of ulcerative colitis. Part 1: definitions, diagnosis, extra-intestinal manifestations …

F Magro, P Gionchetti, R Eliakim… - Journal of Crohn's …, 2017 - academic.oup.com
1.2. Definitions Ulcerative colitis [UC] is a chronic inflammatory condition that causes
continuous mucosal inflammation of the colon, usually without granulomas on biopsy. It …

Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries

Z Liu, R Liu, H Gao, S Jung, X Gao, R Sun, X Liu… - Nature …, 2023 - nature.com
Inflammatory bowel diseases (IBDs) are chronic disorders of the gastrointestinal tract with
the following two subtypes: Crohn's disease (CD) and ulcerative colitis (UC). To date, most …

Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility

A Sazonovs, CR Stevens, GR Venkataraman, K Yuan… - Nature …, 2022 - nature.com
Genome-wide association studies (GWASs) have identified hundreds of loci associated with
Crohn's disease (CD). However, as with all complex diseases, robust identification of the …

Ulcerative colitis: Recent advances in the understanding of disease pathogenesis

RJ Porter, R Kalla, GT Ho - F1000Research, 2020 - pmc.ncbi.nlm.nih.gov
Inflammatory bowel diseases are common, complex, immune-mediated conditions with a
sharply rising global prevalence. While major advances since 2000 have provided strong …

The missing link between genetic association and regulatory function

NJ Connally, S Nazeen, D Lee, H Shi… - Elife, 2022 - elifesciences.org
The genetic basis of most traits is highly polygenic and dominated by non-coding alleles. It is
widely assumed that such alleles exert small regulatory effects on the expression of cis …

Significant sparse polygenic risk scores across 813 traits in UK Biobank

Y Tanigawa, J Qian, G Venkataraman… - PLoS …, 2022 - journals.plos.org
We present a systematic assessment of polygenic risk score (PRS) prediction across more
than 1,500 traits using genetic and phenotype data in the UK Biobank. We report 813 sparse …

Homophily influences ranking of minorities in social networks

F Karimi, M Génois, C Wagner, P Singer… - Scientific reports, 2018 - nature.com
Homophily can put minority groups at a disadvantage by restricting their ability to establish
links with a majority group or to access novel information. Here, we show how this …

Translating immunology into therapeutic concepts for inflammatory bowel disease

HH Uhlig, F Powrie - Annual review of immunology, 2018 - annualreviews.org
Inflammatory bowel disease (IBD) defines a spectrum of complex disorders. Understanding
how environmental risk factors, alterations of the intestinal microbiota, and polygenetic and …

The genetic background of inflammatory bowel disease: from correlation to causality

WTC Uniken Venema, MD Voskuil… - The Journal of …, 2017 - Wiley Online Library
Recent studies have greatly improved our insight into the genetic background of
inflammatory bowel disease (IBD). New high‐throughput technologies and large‐scale …