Research topics

Genetics and genomics

Genetics and genomics articles covering inherited risk, gene expression, disease pathways, and IBD research that connects genes to Crohn's disease, ulcerative colitis, or broader IBD.

Page 1 of 3 · 142 articles

Epithelial Barrier-Injury Transcriptomic Stratification Across Human IBD Mucosal Cohorts.
Omics : a journal of integrative biology

Epithelial Barrier-Injury Transcriptomic Stratification Across Human IBD Mucosal Cohorts.

A transcriptomic "barrier-injury" score that tracks mucosal inflammation and predicts lower odds of mucosal healing could help researchers develop biomarkers for patient stratification, prognosis, or as exploratory...

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Gene and microRNA Expression Profiling in Experimental Colitis and Human Ulcerative Colitis: Effects of STAT6 Knockout and Corylus avellana Treatment
International Journal of Molecular Sciences

Gene and microRNA Expression Profiling in Experimental Colitis and Human Ulcerative Colitis: Effects of STAT6 Knockout and Corylus avellana Treatment

This study maps gene and microRNA changes linked to ulcerative colitis and tests how deleting STAT6 or treating mice with Corylus avellana extract shifts those molecular signatures. Identifying such molecular players may...

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Integrative Analysis of Whole Exome Sequencing and Gene Expression to Uncover Genetic Mechanisms in Inflammatory Bowel Disease
Genes

Integrative Analysis of Whole Exome Sequencing and Gene Expression to Uncover Genetic Mechanisms in Inflammatory Bowel Disease

Identifying genes and pathways involved in IBD can point to new biological mechanisms, potential biomarkers, and future targets for research that may eventually inform diagnosis or treatment.

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KCTD10 Modulates DSS-induced Ulcerative Colitis via Regulating Intestinal Stem Cell Function.
The American journal of pathology

KCTD10 Modulates DSS-induced Ulcerative Colitis via Regulating Intestinal Stem Cell Function.

This study identifies KCTD10 as a regulator of intestinal stem cell function and mucosal repair in experimental colitis, which could point to new mechanistic insights about why epithelial healing fails in some cases of...

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Assessing the Robustness of Gene-Expression Findings on Infliximab Response in Ulcerative Colitis
MDPI AG

Assessing the Robustness of Gene-Expression Findings on Infliximab Response in Ulcerative Colitis

The paper points out that reused patient records and preprocessing choices can change how well gene-expression models appear to predict infliximab response. That matters because such biases could mislead researchers and...

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RORC-centered genetic and toxicological signatures connect bisphenols to inflammatory bowel disease
Environmental Sciences Europe

RORC-centered genetic and toxicological signatures connect bisphenols to inflammatory bowel disease

If true, the findings suggest that everyday chemicals (bisphenols) might influence immune pathways relevant to IBD and that RORC could be a molecular link — potentially relevant for researchers studying environmental...

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ABCA1 deficiency-induced cholesterol accumulation aggravates colonic epithelial injury in knockout hamsters.
Animal models and experimental medicine

ABCA1 deficiency-induced cholesterol accumulation aggravates colonic epithelial injury in knockout hamsters.

The study identifies ABCA1 deficiency and epithelial cholesterol accumulation as drivers of colonic injury and inflammation in a hamster model, highlighting a possible new mechanism relevant to IBD pathogenesis. That...

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Gut bacterial lauroyl tryptamine reduces GPR183-associated inflammatory responses in human macrophages and T cells in vitro
Frontiers in Immunology

Gut bacterial lauroyl tryptamine reduces GPR183-associated inflammatory responses in human macrophages and T cells in vitro

This research links a gut bacterial metabolite to modulation of an immune receptor (GPR183) that is elevated in colon/rectum of ulcerative colitis patients, suggesting a possible microbiota‑to‑immune pathway relevant to...

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OLFM4, LCN2 and FAM3B as Potential Biomarkers for Gut–Brain Axis Dysfunction in IBD-MDD Comorbidity
Genes

OLFM4, LCN2 and FAM3B as Potential Biomarkers for Gut–Brain Axis Dysfunction in IBD-MDD Comorbidity

People with IBD commonly experience mood disorders; identifying shared molecular signals could help explain why and point to biomarkers or targets for research. This study proposes three genes linked to conserved...

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Machine learning predicts relapse after anti-TNF withdrawal in ulcerative colitis using rectal biopsy transcriptomics
openRxiv

Machine learning predicts relapse after anti-TNF withdrawal in ulcerative colitis using rectal biopsy transcriptomics

Predicting who will relapse after stopping anti-TNF drugs could help avoid unnecessary flares or unnecessary ongoing treatment. A biopsy-based transcriptomic test could be a useful decision tool if validated.

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Integrative Transcriptomic and Single-Cell Analyses Identify S100A8 as a Link Between Myeloid Inflammation and Mitophagy Dysregulation in Crohn’s Disease
Europe PMC

Integrative Transcriptomic and Single-Cell Analyses Identify S100A8 as a Link Between Myeloid Inflammation and Mitophagy Dysregulation in Crohn’s Disease

The paper points to S100A8 as a potential link between immune-cell-driven inflammation and mitochondrial stress in Crohn’s disease, which could help researchers explore new biomarkers or targets for study.

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Identification of Autophagy-Related Biomarkers for Subtyping and Immune Microenvironment Remodeling in Ulcerative Colitis
Springer Science and Business Media LLC

Identification of Autophagy-Related Biomarkers for Subtyping and Immune Microenvironment Remodeling in Ulcerative Colitis

This study proposes three autophagy-related genes (APOL1, CCL2, IL24) as potential biomarkers that may help classify ulcerative colitis patients into subtypes with different immune environments, which could eventually...

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Multi-cohort meta-analysis, single-cell and Mendelian randomization analyses with experimental validation identify RHBDF2 as a shared mediator of ulcerative colitis and blood–brain barrier disruption
Frontiers in Synaptic Neuroscience

Multi-cohort meta-analysis, single-cell and Mendelian randomization analyses with experimental validation identify RHBDF2 as a shared mediator of ulcerative colitis and blood–brain barrier disruption

The paper suggests a molecular link (RHBDF2–ADAM17–TNFα) between ulcerative colitis and blood–brain barrier disruption, which could explain some neurological comorbidities of UC and identify targets for future therapies.

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Biopsy-Based Molecular Signatures Predicting Therapeutic Response in Ulcerative Colitis
International Journal of Molecular Sciences

Biopsy-Based Molecular Signatures Predicting Therapeutic Response in Ulcerative Colitis

If validated, mucosal biomarkers like SPARC and SPP1 might help predict who will not respond to infliximab, potentially guiding treatment choices and avoiding ineffective therapy for some people with UC.

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America's alarming bowel disease epidemic: Experts reveal the lifestyle habits driving Crohn's surge... the surprising colon cancer paradox... and simple tweaks to reduce your risk
dailymail.com

America's alarming bowel disease epidemic: Experts reveal the lifestyle habits driving Crohn's surge... the surprising colon cancer paradox... and simple tweaks to reduce your risk

Crohn's is becoming more common among younger Americans and long-term uncontrolled inflammation raises colorectal cancer risk. Understanding possible lifestyle and medical factors can help patients and clinicians focus...

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In which intestinal cells does the genetic risk for Crohn's disease appear? — Analysis of 178,030 cells from 39 individuals
note.com

In which intestinal cells does the genetic risk for Crohn's disease appear? — Analysis of 178,030 cells from 39 individuals

Links between GWAS risk loci and the specific cell types where those loci may act can focus laboratory experiments and eventually help identify causal genes or pathways relevant to Crohn’s disease.

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Genome-wide analysis of genetic modifiers of Crohn's disease and ulcerative colitis risk in response to tobacco smoking.
EBioMedicine

Genome-wide analysis of genetic modifiers of Crohn's disease and ulcerative colitis risk in response to tobacco smoking.

The work helps explain why smoking increases Crohn’s risk but seems protective for ulcerative colitis by identifying genetic loci and smoking-dependent gene expression changes that differ between the two diseases. That...

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Gut Microbiota, Inflammatory Bowel Disease and the Prioritization of Host Effector Genes: A Two-Sample Mendelian Randomization Study with Independent Replication, cis-eQTL Colocalization and Single-Cell Localization
International Journal of Molecular Sciences

Gut Microbiota, Inflammatory Bowel Disease and the Prioritization of Host Effector Genes: A Two-Sample Mendelian Randomization Study with Independent Replication, cis-eQTL Colocalization and Single-Cell Localization

The work suggests specific host genes and cell types that might mediate links between gut microbes and IBD, which could direct future laboratory research into mechanisms and potential biomarkers.

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Integrating Genetics With Epidemiological Measurements Identifies Burden QTLs of Inflammatory Bowel Disease across 20 Countries.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)

Integrating Genetics With Epidemiological Measurements Identifies Burden QTLs of Inflammatory Bowel Disease across 20 Countries.

Finding genetic variants that correlate with country-level IBD burden could help researchers study why IBD rates differ geographically and point to biological pathways relevant to disease risk and outcomes.

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Identification of Transcriptional Hippo Response Signature Connecting Inflammatory Bowel Disease and Colorectal Cancer Progression
medRxiv

Identification of Transcriptional Hippo Response Signature Connecting Inflammatory Bowel Disease and Colorectal Cancer Progression

This study maps a shared transcriptional programme linking inflamed IBD tissue to colorectal cancer pathways, highlighting potential biomarker and prevention targets relevant to the inflammation-to-cancer transition.

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GPR97 is a novel diagnostic biomarker and immunomodulatory target in ulcerative colitis: evidence from integrated bioinformatics and experimental validation
Springer Science and Business Media LLC

GPR97 is a novel diagnostic biomarker and immunomodulatory target in ulcerative colitis: evidence from integrated bioinformatics and experimental validation

Finding reliable diagnostic biomarkers could help detect UC earlier and clarify immune mechanisms that drive disease; GPR97 is proposed here as such a marker and a possible immunomodulatory target, which may interest...

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Integrative transcriptomic analysis links epithelial PCK1 dysregulation to ulcerative colitis and acetyl-l-carnitine-mediated inflammatory modulation.
International immunopharmacology

Integrative transcriptomic analysis links epithelial PCK1 dysregulation to ulcerative colitis and acetyl-l-carnitine-mediated inflammatory modulation.

This identifies a metabolism-related epithelial gene (PCK1) linked to inflammation in UC and suggests acetyl‑L‑carnitine can partially reverse those changes in cell and mouse models—information that could guide future...

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Cell-type specific analyses in blood and gut identify cis-eQTL matching 140 IBD risk loci and entrectinib as repurposing candidate.
Nature communications

Cell-type specific analyses in blood and gut identify cis-eQTL matching 140 IBD risk loci and entrectinib as repurposing candidate.

The study connects many IBD genetic risk regions to specific genes and cell types, helping prioritize drug targets. It also nominates a known small molecule (entrectinib) as a repurposing candidate via NLRP3/NEK7...

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Multi-Omics Integration Identifies Epithelial-Stromal-Immune Co-Regulators Bridging Ulcerative Colitis and Colorectal Cancer
Biomedicines

Multi-Omics Integration Identifies Epithelial-Stromal-Immune Co-Regulators Bridging Ulcerative Colitis and Colorectal Cancer

This work looks for molecular signals that might help explain how long-term ulcerative colitis can be connected to higher colorectal cancer risk. Identifying shared genes and spatial patterns could eventually guide...

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Identification of Gene Signatures and Molecular Mechanisms Underlying the Comorbidity of Alzheimer's Disease and Crohn's Disease Using Machine Learning.
Psychiatry investigation

Identification of Gene Signatures and Molecular Mechanisms Underlying the Comorbidity of Alzheimer's Disease and Crohn's Disease Using Machine Learning.

The paper proposes molecular links between Crohn’s disease and Alzheimer’s disease through two genes implicated in inflammation and tissue remodeling. This could shape future research into shared gut–brain inflammatory...

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Genetic and microbial regulation of NOD2 signaling in homeostasis and disease.
MedScience

Genetic and microbial regulation of NOD2 signaling in homeostasis and disease.

NOD2 loss-of-function is a major genetic risk for Crohn’s disease, and this review highlights that gut microbes can modulate NOD2 signaling. That connection may help explain variation in disease risk and points to...

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The exposome and inflammatory bowel disease: a framework for primary and primordial prevention
Nature Reviews Gastroenterology & Hepatology

The exposome and inflammatory bowel disease: a framework for primary and primordial prevention

The exposome perspective emphasizes that many non-genetic, potentially modifiable environmental factors likely influence IBD risk. Understanding these factors could help guide prevention research and public-health...

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Use of a novel genetic mouse model to investigate the role of folate in colitis-associated colon cancer
The Journal of nutritional biochemistry

Use of a novel genetic mouse model to investigate the role of folate in colitis-associated colon cancer

The paper suggests that reduced folate transport can raise markers of inflammation-associated colon tumor initiation in mice, which is relevant because people with IBD are at higher risk for folate deficiency and colon...

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An H2A.Z-dependent epigenetic checkpoint in macrophages couples genetic risk to microbial metabolite signaling.
Protein & cell

An H2A.Z-dependent epigenetic checkpoint in macrophages couples genetic risk to microbial metabolite signaling.

This study links an epigenetic mechanism in macrophages (H2A.Z deposition) to microbial metabolites (butyrate) and to genetic variants associated with IBD, which may help explain persistent inflammation and variable...

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Large-scale transcriptomic meta-analysis identifies constitutive and inflammation-dependent layers in ulcerative colitis
Scientific Reports

Large-scale transcriptomic meta-analysis identifies constitutive and inflammation-dependent layers in ulcerative colitis

This study identifies reproducible molecular patterns in UC tissue that could help researchers target non-immune pathways (metabolic/mitochondrial) in addition to inflammation, and it highlights that apparently...

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[Corrigendum] Integrative transcriptomic analysis unveils FXR as a key regulator of intestinal stemness and inflammation in ulcerative colitis
International Journal of Molecular Medicine

[Corrigendum] Integrative transcriptomic analysis unveils FXR as a key regulator of intestinal stemness and inflammation in ulcerative colitis

Accurate methods and dataset labels matter for researchers reproducing transcriptomic analyses and for clinicians interpreting translational implications. The corrigendum clarifies which datasets and experimental models...

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From gut to pancreas: Shared genetic susceptibility and biological convergence in acute pancreatitis and Crohn’s disease
PLOS One

From gut to pancreas: Shared genetic susceptibility and biological convergence in acute pancreatitis and Crohn’s disease

The paper provides genetic evidence that acute pancreatitis and Crohn’s disease share polygenic risk and converge on immune and inflammatory pathways; this may explain some observed comorbidity and points to biological...

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Towards Precision Medicine in Inflammatory Bowel Diseases: Pharmacogenetic Predictors of Ustekinumab Effectiveness and Persistence
Pharmaceuticals

Towards Precision Medicine in Inflammatory Bowel Diseases: Pharmacogenetic Predictors of Ustekinumab Effectiveness and Persistence

If validated, a genetic marker (IL12B rs6887695) might help predict which patients are more likely to benefit from ustekinumab, potentially informing personalized treatment choices in IBD.

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Time-course blood transcriptome dynamics of TNF-α inhibitor therapy in a Chinese cohort with psoriasis.
The Journal of investigative dermatology

Time-course blood transcriptome dynamics of TNF-α inhibitor therapy in a Chinese cohort with psoriasis.

The study identifies blood gene-expression patterns linked to response to TNF-alpha inhibitors and highlights overlap between psoriasis and IBD, which could point to shared biomarkers or mechanisms relevant to treatment...

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