Genetics of irritable bowel syndrome: shifting gear via biobank-scale studies
M Camilleri, A Zhernakova, I Bozzarelli… - Nature Reviews …, 2022 - nature.com
The pathophysiology of irritable bowel syndrome (IBS) is multifactorial and probably
involves genetic predisposition and the effect of environmental factors. Unlike other …
involves genetic predisposition and the effect of environmental factors. Unlike other …
Early diagnosis, early stratification, and early intervention to deliver precision medicine in IBD
NM Noor, P Sousa, S Paul… - Inflammatory Bowel …, 2022 - academic.oup.com
Despite huge advances in understanding the molecular basis of IBD, clinical management
has continued to rely on a “trial and error” approach. In addition, a therapeutic ceiling has …
has continued to rely on a “trial and error” approach. In addition, a therapeutic ceiling has …
[PDF][PDF] Genome-wide risk prediction of common diseases across ancestries in one million people
Polygenic risk scores (PRS) measure genetic disease susceptibility by combining risk effects
across the genome. For coronary artery disease (CAD), type 2 diabetes (T2D), and breast …
across the genome. For coronary artery disease (CAD), type 2 diabetes (T2D), and breast …
An integrated taxonomy for monogenic inflammatory bowel disease
Background & aims Monogenic forms of inflammatory bowel disease (IBD) illustrate the
essential roles of individual genes in pathways and networks safeguarding immune …
essential roles of individual genes in pathways and networks safeguarding immune …
[HTML][HTML] Integration of epigenetic and genetic profiles identifies multiple sclerosis disease-critical cell types and genes
Genome-wide association studies (GWAS) successfully identified multiple sclerosis (MS)
susceptibility variants. Despite this notable progress, understanding the biological context of …
susceptibility variants. Despite this notable progress, understanding the biological context of …
Utility of polygenic embryo screening for disease depends on the selection strategy
Polygenic risk scores (PRSs) have been offered since 2019 to screen in vitro fertilization
embryos for genetic liability to adult diseases, despite a lack of comprehensive modeling of …
embryos for genetic liability to adult diseases, despite a lack of comprehensive modeling of …
NOX1 is essential for TNFα-induced intestinal epithelial ROS secretion and inhibits M cell signatures
Objective Loss-of-function mutations in genes generating reactive oxygen species (ROS),
such as NOX1, are associated with IBD. Mechanisms whereby loss of ROS drive IBD are …
such as NOX1, are associated with IBD. Mechanisms whereby loss of ROS drive IBD are …
[HTML][HTML] Pharmacologic management of monogenic and very early onset inflammatory bowel diseases
AE Levine, D Mark, L Smith, HB Zheng, DL Suskind - Pharmaceutics, 2023 - mdpi.com
Inflammatory bowel disease (IBD) is treated with a variety of immunomodulating and
immunosuppressive therapies; however, for the majority of cases, these therapies are not …
immunosuppressive therapies; however, for the majority of cases, these therapies are not …
[HTML][HTML] Multi-omics approach to precision medicine for immune-mediated diseases
M Ota, K Fujio - Inflammation and regeneration, 2021 - Springer
Recent innovation in high-throughput sequencing technologies has drastically empowered
the scientific research. Consequently, now, it is possible to capture comprehensive profiles …
the scientific research. Consequently, now, it is possible to capture comprehensive profiles …
[PDF][PDF] Stability of polygenic scores across discovery genome-wide association studies
Polygenic scores (PGS) are commonly evaluated in terms of their predictive accuracy at the
population level by the proportion of phenotypic variance they explain. To be useful for …
population level by the proportion of phenotypic variance they explain. To be useful for …