Genetics of irritable bowel syndrome: shifting gear via biobank-scale studies

Combined effects of host genetics and diet on human gut microbiota and incident disease in a single population cohort

(2022) Youwen Qin et al.   NATURE GENETICS

Challenges and future directions for studying effects of host genetics on the gut microbiome

(2022) Serena Sanna et al.   NATURE GENETICS

Effect of host genetics on the gut microbiome in 7,738 participants of the Dutch Microbiome Project

(2022) Esteban A. Lopera-Maya et al.   NATURE GENETICS

Environmental factors shaping the gut microbiome in a Dutch population

(2022) R. Gacesa et al.   NATURE

Genome-wide association study in 8,956 German individuals identifies influence of ABO histo-blood groups on gut microbiome

(2021) Malte Christoph Rühlemann et al.   NATURE GENETICS

Large-scale association analyses identify host factors influencing human gut microbiome composition

(2021) Alexander Kurilshikov et al.   NATURE GENETICS

Diagnosis and Treatment of Irritable Bowel Syndrome

(2021) Michael Camilleri   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Gastrointestinal motility disorders in neurologic disease

(2021) Michael Camilleri   JOURNAL OF CLINICAL INVESTIGATION

GWAS of peptic ulcer disease implicates Helicobacter pylori infection, other gastrointestinal disorders and depression

(2021) Yeda Wu et al.   Nature Communications

Role of the gut microbiome in mediating lactose intolerance symptoms

(2021) M F Brandao Gois et al.   GUT

Sorting Out Sorting Nexins Functions in the Nervous System in Health and Disease

(2021) Neide Vieira et al.   MOLECULAR NEUROBIOLOGY

Rare Hypomorphic Sucrase Isomaltase Variants in Relation to Irritable Bowel Syndrome Risk in UK Biobank

(2021) T. Zheng et al.   GASTROENTEROLOGY

The alternative serotonin transporter promoter P2 impacts gene function in females with irritable bowel syndrome

(2021) Sandra Mohr et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Multi-Omics Analyses Show Disease, Diet, and Transcriptome Interactions With the Virome

(2021) Kathie A. Mihindukulasuriya et al.   GASTROENTEROLOGY

Adult sucrase-isomaltase deficiency masquerading as IBS

(2021) Anna Foley et al.   GUT

Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders

(2021) Chris Eijsbouts et al.   NATURE GENETICS

Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps

(2021) et al.   NATURE MEDICINE

Rome Foundation Clinical Diagnostic Criteria for Disorders of Gut-Brain Interaction

(2021) Douglas A. Drossman et al.   GASTROENTEROLOGY

Big data in IBD: big progress for clinical practice

(2020) Nasim Sadat Seyed Tabib et al.   GUT

Evidence-based and mechanistic insights into exclusion diets for IBS

(2020) Paul Moayyedi et al.   Nature Reviews Gastroenterology & Hepatology

Assessing Digital Phenotyping to Enhance Genetic Studies of Human Diseases

(2020) Christopher DeBoever et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Actionable biomarkers: the key to resolving disorders of gastrointestinal function

(2020) Michael Camilleri et al.   GUT

Hypomorphic SI genetic variants are associated with childhood chronic loose stools

(2020) Bruno P. Chumpitazi et al.   PLoS One

Genome-wide associations of human gut microbiome variation and implications for causal inference analyses

(2020) David A. Hughes et al.   Nature Microbiology

SCF-FBXO24 regulates cell proliferation by mediating ubiquitination and degradation of PRMT6

(2020) Wei Chen et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The Human and Mouse Enteric Nervous System at Single-Cell Resolution

(2020) Eugene Drokhlyansky et al.   CELL

Irritable bowel syndrome

(2020) Alexander C Ford et al.   LANCET

Common and rare variant prediction and penetrance of IBD in a large, multi-ethnic, health system-based biobank cohort

(2020) Kyle Gettler et al.   GASTROENTEROLOGY

Reduced efficacy of low FODMAPs diet in patients with IBS-D carrying sucrase-isomaltase (SI) hypomorphic variants

(2019) Tenghao Zheng et al.   GUT

Causal relationships among the gut microbiome, short-chain fatty acids and metabolic diseases

(2019) Serena Sanna et al.   NATURE GENETICS

The Missing Diversity in Human Genetic Studies

(2019) Giorgio Sirugo et al.   CELL

Human Salivary Amylase Gene Copy Number Impacts Oral and Gut Microbiomes

(2019) Angela C. Poole et al.   Cell Host & Microbe

Gut Microbiota in Patients With Irritable Bowel Syndrome—A Systematic Review

(2019) Rapat Pittayanon et al.   GASTROENTEROLOGY

Abnormalities of mucosal serotonin metabolism and 5-HT3 receptor subunit 3C polymorphism in irritable bowel syndrome with diarrhoea predict responsiveness to ondansetron

(2019) David Gunn et al.   ALIMENTARY PHARMACOLOGY & THERAPEUTICS

Intra- and Inter-cellular Rewiring of the Human Colon during Ulcerative Colitis

(2019) Christopher S. Smillie et al.   CELL

A Dietary Intervention with Reduction of Starch and Sucrose Leads to Reduced Gastrointestinal and Extra-Intestinal Symptoms in IBS Patients

(2019) Clara Nilholm et al.   Nutrients

A global overview of pleiotropy and genetic architecture in complex traits

(2019) Kyoko Watanabe et al.   NATURE GENETICS

PHF2 histone demethylase prevents DNA damage and genome instability by controlling cell cycle progression of neural progenitors

(2019) Stella Pappa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Brain-derived neurotrophic factor and schizophrenia

(2019) Pasquale Di Carlo et al.   PSYCHIATRIC GENETICS

Syntaxin 16’s Newly Deciphered Roles in Autophagy

(2019) Bor Luen Tang   Cells

Irritable bowel syndrome patients have SCN5A channelopathies that lead to decreased NaV1.5 current and mechanosensitivity

(2018) Peter R. Strege et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Increased Prevalence of Rare Sucrase-isomaltase ( SI ) Pathogenic Variants in Irritable Bowel Syndrome Patients

(2018) Koldo Garcia-Etxebarria et al.   Clinical Gastroenterology and Hepatology

Female-Specific Association Between Variants on Chromosome 9 and Self-Reported Diagnosis of Irritable Bowel Syndrome

(2018) Ferdinando Bonfiglio et al.   GASTROENTEROLOGY

Sucrase-isomaltase 15Phe IBS risk variant in relation to dietary carbohydrates and faecal microbiota composition

(2018) Louise Thingholm et al.   GUT

The importance of cohort studies in the post-GWAS era

(2018) Cisca Wijmenga et al.   NATURE GENETICS

A GWAS meta-analysis from 5 population-based cohorts implicates ion channel genes in the pathogenesis of irritable bowel syndrome

(2018) F. Bonfiglio et al.   NEUROGASTROENTEROLOGY AND MOTILITY

Item-level analyses reveal genetic heterogeneity in neuroticism

(2018) Mats Nagel et al.   Nature Communications

Radical and lunatic fringes modulate notch ligands to support mammalian intestinal homeostasis

(2018) Preetish Kadur Lakshminarasimha Murthy et al.   eLife

Work Productivity and Activity Impairment in Irritable Bowel Syndrome (IBS): A Multifaceted Problem

(2018) Åsa Frändemark et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Environment dominates over host genetics in shaping human gut microbiota

(2018) Daphna Rothschild et al.   NATURE

GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal influence of schizophrenia

(2018) Joëlle A. Pasman et al.   NATURE NEUROSCIENCE

Neurotrophic factors in enteric physiology and pathophysiology

(2018) Sumei Liu   NEUROGASTROENTEROLOGY AND MOTILITY

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Gut microbiota composition and functional changes in inflammatory bowel disease and irritable bowel syndrome

(2018) Arnau Vich Vila et al.   Science Translational Medicine

Sex-Gender Differences in Irritable Bowel Syndrome

(2018) Young Sun Kim et al.   Journal of Neurogastroenterology and Motility

Intestinal Fungal Dysbiosis Is Associated With Visceral Hypersensitivity in Patients With Irritable Bowel Syndrome and Rats

(2017) Sara Botschuijver et al.   GASTROENTEROLOGY

Health-related quality of life, work productivity, and indirect costs among patients with irritable bowel syndrome with diarrhea

(2017) Jessica L. Buono et al.   Health and Quality of Life Outcomes

The NCAM1 gene set is linked to depressive symptoms and their brain structural correlates in healthy individuals

(2017) Jana Petrovska et al.   JOURNAL OF PSYCHIATRIC RESEARCH

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease

(2017) Katrina M de Lange et al.   NATURE GENETICS

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

(2017) Felix R Day et al.   NATURE GENETICS

Free fatty acid receptor 3 activation suppresses neurogenic motility in rat proximal colon

(2017) I. Kaji et al.   NEUROGASTROENTEROLOGY AND MOTILITY

Familial dysautonomia: History, genotype, phenotype and translational research

(2017) Lucy Norcliffe-Kaufmann et al.   PROGRESS IN NEUROBIOLOGY

miR-16 and miR-103 impact 5-HT4 receptor signalling and correlate with symptom profile in irritable bowel syndrome

(2017) Carolin Wohlfarth et al.   Scientific Reports

Altered brain and gut responses to corticotropin-releasing hormone (CRH) in patients with irritable bowel syndrome

(2017) Michiko Kano et al.   Scientific Reports

Genetic Determinants of the Gut Microbiome in UK Twins

(2016) Julia K. Goodrich et al.   Cell Host & Microbe

Functional Gastrointestinal Disorders: History, Pathophysiology, Clinical Features, and Rome IV

(2016) Douglas A. Drossman   GASTROENTEROLOGY

Rome IV—Functional GI Disorders: Disorders of Gut-Brain Interaction

(2016) Douglas A. Drossman et al.   GASTROENTEROLOGY

TRPM8polymorphisms associated with increased risk of IBS-C and IBS-M

(2016) Maria Henström et al.   GUT

A GWAS meta-analysis suggests roles for xenobiotic metabolism and ion channel activity in the biology of stool frequency

(2016) Soesma A Jankipersadsing et al.   GUT

Functional variants in the sucrase–isomaltase gene associate with increased risk of irritable bowel syndrome

(2016) Maria Henström et al.   GUT

Stool frequency is associated with gut microbiota composition

(2016) Fatemeh Hadizadeh et al.   GUT

Association of host genome with intestinal microbial composition in a large healthy cohort

(2016) Williams Turpin et al.   NATURE GENETICS

Ion channels, ion channel receptors, and visceral hypersensitivity in irritable bowel syndrome

(2016) I. M. Fuentes et al.   NEUROGASTROENTEROLOGY AND MOTILITY

Population-based metagenomics analysis reveals markers for gut microbiome composition and diversity

(2016) Alexandra Zhernakova et al.   SCIENCE

Novel function of FAXDC2 in megakaryopoiesis

(2016) Q Jin et al.   Blood Cancer Journal

Stem Cells in the Intestine: Possible Roles in Pathogenesis of Irritable Bowel Syndrome

(2016) Sutheera Ratanasirintrawoot et al.   Journal of Neurogastroenterology and Motility

Common polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility loci

(2015) Ciara Coleman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Gut microbiota composition associated with stool consistency

(2015) E F Tigchelaar et al.   GUT

Gut Microbiota as Potential Orchestrators of Irritable Bowel Syndrome

(2015) Sean M.P. Bennet et al.   Gut and Liver

GWAS for executive function and processing speed suggests involvement of the CADM2 gene

(2015) C A Ibrahim-Verbaas et al.   MOLECULAR PSYCHIATRY

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

(2015) Jimmy Z Liu et al.   NATURE GENETICS

Role of Corticotropin-releasing Factor Signaling in Stress-related Alterations of Colonic Motility and Hyperalgesia

(2015) Yvette Taché et al.   Journal of Neurogastroenterology and Motility

Sex differences in gut fermentation and immune parameters in rats fed an oligofructose-supplemented diet

(2015) Padmaja Shastri et al.   Biology of Sex Differences

Brain-derived neurotrophic factor accelerates gut motility in slow-transit constipation

(2014) F. Chen et al.   Acta Physiologica

Genome-Wide Association Study Identifies Two Novel Genomic Regions in Irritable Bowel Syndrome

(2014) Elizabeth G Holliday et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation

(2014) M. Z. Jackson et al.   DEVELOPMENT

Loss-of-Function of the Voltage-Gated Sodium Channel NaV1.5 (Channelopathies) in Patients With Irritable Bowel Syndrome

(2014) Arthur Beyder et al.   GASTROENTEROLOGY

Risk of irritable bowel syndrome in first-degree, second-degree and thirddegree relatives of affected individuals: a nationwide family study in Sweden

(2014) Rasmus Waehrens et al.   GUT

Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts

(2014) Weronica E Ek et al.   GUT

Cohort Profile: LifeLines, a three-generation cohort study and biobank

(2014) Salome Scholtens et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

NPSR1polymorphisms influence recurrent abdominal pain in children: a population-based study

(2014) M. Henström et al.   NEUROGASTROENTEROLOGY AND MOTILITY

Interstitial Cells: Regulators of Smooth Muscle Function

(2014) Kenton M. Sanders et al.   PHYSIOLOGICAL REVIEWS

Gender-related differences in irritable bowel syndrome: Potential mechanisms of sex hormones

(2014) Mathieu Meleine   WORLD JOURNAL OF GASTROENTEROLOGY

Gastrointestinal symptoms before and during menses in healthy women

(2014) Matthew T Bernstein et al.   BMC Womens Health

Neural plasticity in the gastrointestinal tract: chronic inflammation, neurotrophic signals, and hypersensitivity

(2013) Ihsan Ekin Demir et al.   ACTA NEUROPATHOLOGICA

BAG-6, a jack of all trades in health and disease

(2013) Janina Binici et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Type, Rather Than Number, of Mental and Physical Comorbidities Increases the Severity of Symptoms in Patients With Irritable Bowel Syndrome

(2013) Jeffrey M. Lackner et al.   Clinical Gastroenterology and Hepatology

GPR41/FFAR3 and GPR43/FFAR2 as Cosensors for Short-Chain Fatty Acids in Enteroendocrine Cells vs FFAR3 in Enteric Neurons and FFAR2 in Enteric Leukocytes

(2013) Mark K. Nøhr et al.   ENDOCRINOLOGY

Peppermint Oil for the Treatment of Irritable Bowel Syndrome

(2013) Reena Khanna et al.   JOURNAL OF CLINICAL GASTROENTEROLOGY

Serotonin signalling in the gut—functions, dysfunctions and therapeutic targets

(2013) Gary M. Mawe et al.   Nature Reviews Gastroenterology & Hepatology

Genes and functional GI disorders: from casual to causal relationship

(2013) Mauro D'Amato   NEUROGASTROENTEROLOGY AND MOTILITY

Five Years of GWAS Discovery

(2012) Peter M. Visscher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Irritable Bowel Syndrome: Methods, Mechanisms, and Pathophysiology. Genetic epidemiology and pharmacogenetics in irritable bowel syndrome

(2012) Michael Camilleri et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

A Polymorphism Associated with Depressive Disorders Differentially Regulates Brain Derived Neurotrophic Factor Promoter IV Activity

(2012) Benjamin Hing et al.   BIOLOGICAL PSYCHIATRY

BAG6/BAT3: emerging roles in quality control for nascent polypeptides

(2012) H. Kawahara et al.   JOURNAL OF BIOCHEMISTRY

Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease

(2012) Luke Jostins et al.   NATURE

Inhibition of natural antisense transcripts in vivo results in gene-specific transcriptional upregulation

(2012) Farzaneh Modarresi et al.   NATURE BIOTECHNOLOGY

Peripheral Mechanisms in Irritable Bowel Syndrome

(2012) Michael Camilleri   NEW ENGLAND JOURNAL OF MEDICINE

The HTR3A Polymorphism c. -42C>T Is Associated With Amygdala Responsiveness in Patients With Irritable Bowel Syndrome

(2011) Lisa A. Kilpatrick et al.   GASTROENTEROLOGY

A Klothoβ Variant Mediates Protein Stability and Associates With Colon Transit in Irritable Bowel Syndrome With Diarrhea

(2011) Banny S. Wong et al.   GASTROENTEROLOGY

The Role of Genetics in IBS

(2011) Yuri A. Saito   GASTROENTEROLOGY CLINICS OF NORTH AMERICA

IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia

(2011) D. Cheishvili et al.   HUMAN MOLECULAR GENETICS

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

(2011) Gosia Trynka et al.   NATURE GENETICS

The European lactase persistence genotype determines the lactase persistence state and correlates with gastrointestinal symptoms in the Hispanic and Amerindian Chilean population: a case-control and population-based study

(2011) E. Morales et al.   BMJ Open

TRP channels in neurogastroenterology: opportunities for therapeutic intervention

(2010) Werend Boesmans et al.   BRITISH JOURNAL OF PHARMACOLOGY

5-HTTLPR and STin2 polymorphisms in the serotonin transporter gene and irritable bowel syndrome: effect of bowel habit and sex

(2010) Beate Niesler et al.   EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY

Short-Chain Fatty Acids Regulate the Enteric Neurons and Control Gastrointestinal Motility in Rats

(2010) Rodolphe Soret et al.   GASTROENTEROLOGY

Syntaxin 16 Binds to Cystic Fibrosis Transmembrane Conductance Regulator and Regulates Its Membrane Trafficking in Epithelial Cells

(2010) Heon Yung Gee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

(2010) Cathy E Elks et al.   NATURE GENETICS

Multiple common variants for celiac disease influencing immune gene expression

(2010) Patrick C A Dubois et al.   NATURE GENETICS

Pathogenesis of IBS: role of inflammation, immunity and neuroimmune interactions

(2010) Lena Öhman et al.   Nature Reviews Gastroenterology & Hepatology

Expression of short-chain fatty acid receptor GPR41 in the human colon

(2009) Hideaki Tazoe et al.   BIOMEDICAL RESEARCH-TOKYO

Genetics and Irritable Bowel Syndrome: From Genomics to Intermediate Phenotype and Pharmacogenetics

(2009) Michael Camilleri   DIGESTIVE DISEASES AND SCIENCES

Neuropeptide S Receptor Induces Neuropeptide Expression and Associates With Intermediate Phenotypes of Functional Gastrointestinal Disorders

(2009) Michael Camilleri et al.   GASTROENTEROLOGY

Estrogen and its role in gastrointestinal health and disease

(2009) Aisling M. Hogan et al.   INTERNATIONAL JOURNAL OF COLORECTAL DISEASE

Regulation of dendrite growth by the Cdc42 activator Zizimin1/Dock9 in hippocampal neurons

(2009) Kazuya Kuramoto et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Cyclin-dependent kinases: a family portrait

(2009) Marcos Malumbres et al.   NATURE CELL BIOLOGY

PCTK Proteins: The Forgotten Brain Kinases?

(2009) Adam R. Cole   NEUROSIGNALS

Neuroendocrine Control of the Gut During Stress: Corticotropin-Releasing Factor Signaling Pathways in the Spotlight

(2008) Andreas Stengel et al.   Annual Review of Physiology

L1 and NCAM adhesion molecules as signaling coreceptors in neuronal migration and process outgrowth

(2008) Ralf S Schmid et al.   CURRENT OPINION IN NEUROBIOLOGY

Compound Heterozygous Mutations Affect Protein Folding and Function in Patients With Congenital Sucrase-Isomaltase Deficiency

(2008) Marwan Alfalah et al.   GASTROENTEROLOGY

First evidence for an association of a functional variant in the microRNA-510 target site of the serotonin receptor-type 3E gene with diarrhea predominant irritable bowel syndrome

(2008) Johannes Kapeller et al.   HUMAN MOLECULAR GENETICS

Shared and Distinct Genetic Variants in Type 1 Diabetes and Celiac Disease

(2008) Deborah J. Smyth et al.   NEW ENGLAND JOURNAL OF MEDICINE

Effects of the gut microbiota on host adiposity are modulated by the short-chain fatty-acid binding G protein-coupled receptor, Gpr41

(2008) B. S. Samuel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

An exploratory study of the association of adrenergic and serotonergic genotype and gastrointestinal motor functions

(2007) a. b. m. grudell et al.   NEUROGASTROENTEROLOGY AND MOTILITY