SynthesisGastroenterology2017
Genome-Wide Association Study Identifies African-Specific Susceptibility Loci in African Americans With Inflammatory Bowel Disease.
Open access · greenAbstract readMeta-AnalysisMulticenter Study
In one paragraph
Synthesis in Gastroenterology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 102 papers, 4 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
102citing papers in PubMed, 4 pooled it
13.2field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
102 citing papers in PubMed, 4 syntheses or guidelines pooled it, 156 citations in OpenAlex.
- Large-scale multi-trait genome-wide analysis for inflammatory bowel disease reveals new insights into its molecular mechanisms and emphasizes the roles of systemic immune regulation.Briefings in bioinformatics · 2025Pooled it
- Trans-ancestry, Bayesian meta-analysis discovers 20 novel risk loci for inflammatory bowel disease in an African American, East Asian and European cohort.Human molecular genetics · 2023Pooled it
- Candidate single nucleotide polymorphisms of irritable bowel syndrome: a systemic review and meta-analysis.BMC gastroenterology · 2019Pooled it
- Ethnicity Influences Phenotype and Outcomes in Inflammatory Bowel Disease: A Systematic Review and Meta-analysis of Population-based Studies.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2018Pooled it
- Sennosides vs magnesium hydroxide vs polyethylene glycol as a treatment for constipation in anorectal malformation: a randomized crossover trial.Pediatric surgery international · 2025Trial
- A Pilot Study of Ketotifen in Patients Aged 8-17 Years with Functional Dyspepsia Associated with Mucosal Eosinophilia.Paediatric drugs · 2024Trial
- Racial Difference in Efficacy of Golimumab in Ulcerative Colitis.Inflammatory bowel diseases · 2023Trial
- Multi-omics characterization of Yao syndrome identifies three pathophysiological axes and disease-specific divergence from Blau syndrome.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2026Article
- IBD Care Across Diverse Patient Populations: Changing the Narrative.Digestive diseases and sciences · 2026Review
- Gut-reproduction axis: genome-wide pleiotropic and prospective evidence linking inflammatory bowel disease with gynecological disorders.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2026Article
- Barrett's esophagus-associated genetic loci in African Americans: a case-control study using the All of Us Research Program.European journal of gastroenterology & hepatology · 2026Observational
- Mechanostimulatory Cues Determine Intestinal Fibroblast Fate and Profibrotic Remodeling in a Physiodynamic Human Gut-on-a-Chip.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Loss of E3 ligase Ube4A Disrupts Colon Homeostasis and Accelerates Experimental Colitis via Altered Lipid Handling.bioRxiv : the preprint server for biology · 2026Article
- Large-scale meta- and cross-trait analyses uncover shared genetic risk factors for IBS and psychiatric disorders.Frontiers in psychiatry · 2026Article
- Ubiquitin-Modifying Enzymes as Cell-Fate Regulators in Intestinal Inflammation.International journal of biological sciences · 2026Review
- IL-15 Promotes Inflammatory Th17 Cells in the Intestine.Inflammatory bowel diseases · 2025Article
- Towards IBD Prediction and Prevention: The Contribution of Genetics and Genomics.Inflammatory bowel diseases · 2025Review
- AF6 regulates intestinal IgA via crosstalk between intestinal epithelial cells and immune cells in inflammatory bowel disease.iScience · 2025Article
- Phenome-wide association study of monogenic inflammatory bowel disease genes in diverse biobanks identifies population-specific and shared Goldilocks alleles: implications for Precision Medicine.Journal of Crohn's & colitis · 2025Article
- Racial Disparities in Utilization of Medications and Disease Outcomes in Inflammatory Bowel Disease Patients.Crohn's & colitis 360 · 2025Article
42 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
61 authors at 20 institutions in 2 countries.
Steven R BrantDepartment of Medicine, Meyerhoff Inflammatory Bowel Disease Center, Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland.
David T OkouDepartment of Pediatrics, Emory University School of Medicine, Atlanta, Georgia.
Claire L SimpsonDepartment of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, Tennessee; Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland.
David J CutlerDepartment of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
Talin HarituniansF. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, California.
Jonathan P BradfieldCenter for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Pankaj ChopraDepartment of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
Jarod PrinceDepartment of Pediatrics, Emory University School of Medicine, Atlanta, Georgia.
Ferdouse BegumDepartment of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland.
Archana KumarDepartment of Pediatrics, Emory University School of Medicine, Atlanta, Georgia.
Chengrui HuangDepartment of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland.
Suresh VenkateswaranDepartment of Pediatrics, Emory University School of Medicine, Atlanta, Georgia.
Lisa W DattaDepartment of Medicine, Meyerhoff Inflammatory Bowel Disease Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Zhi WeiCenter for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Kelly ThomasCenter for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Lisa J HerrintonKaiser Permanente, Oakland, California.
Jan-Micheal A KlapprothUniversity of Pennsylvania, Philadelphia, Pennsylvania.
Antonio J QuirosDepartment of Pediatrics, Medical University of South Carolina, Pediatric Center for Inflammatory Bowel Disorders, Summerville, South Carolina.
Jenifer SeminerioDepartment of Gastroenterology, Medical University of South Carolina Digestive Disease Center, Charleston, South Carolina.
Zhenqiu LiuF. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, California.
Jonathan S AlexanderDepartment of Molecular and Cellular Physiology, Louisiana State University Health Sciences Center, Shreveport, Louisiana.
Robert N BaldassanoDepartment of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Sharon Dudley-BrownDepartment of Medicine, Johns Hopkins University Schools of Medicine & Nursing, Baltimore, Maryland.
Raymond K CrossDepartment of Medicine, University of Maryland School of Medicine, Baltimore, Maryland.
Themistocles DassopoulosDepartment of Medicine, Washington University School of Medicine, St Louis, Missouri.
Lee A DensonDivision of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Tanvi A DhereDepartment of Medicine, Emory University School of Medicine, Atlanta, Georgia.
Gerald W DrydenDepartment of Medicine, University of Louisville, Louisville, Kentucky.
John S HansonCharlotte Gastroenterology and Hepatology, Charlotte, North Carolina.
Jason K HouDepartment of Medicine, Baylor College of Medicine; Veterans Affairs Health Services Research and Development Service, Center for Innovations in Quality Effectiveness and Safety; Michael E. DeBakey Veterans Affairs Medical Center, Houston, Texas.
Sunny Z HussainDepartment of Pediatrics, Willis-Knighton Physician Network, Shreveport, Louisiana.
Jeffrey S HyamsConnecticut Children's Medical Center, Hartford, Connecticut.
Kim L IsaacsDepartment of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
Howard KaderDepartment of Pediatrics, University of Maryland School of Medicine, Baltimore, Maryland.
Michael D KappelmanDepartment of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
Jeffry KatzCase Western Reserve University, Cleveland, Ohio.
Richard KellermayerSection of Pediatric Gastroenterology, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas.
Barbara S KirschnerDepartment of Pediatrics, University of Chicago Comer Children's Hospital, Chicago, Illinois.
John F KuemmerleMedicine and Physiology and Biophysics, Medical College of Virginia Campus of Virginia Commonwealth University, Richmond, Virginia.
John H KwonDepartment of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas.
Mark LazarevDepartment of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Ellen LiDepartment of Medicine, Stony Brook University School of Medicine, Stony Brook, New York.
David MackDepartment of Pediatrics, University of Ottawa and Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Peter MannonDepartment of Medicine, University of Alabama at Birmingham, Birmingham, Alabama.
Dedrick E MoultonVanderbilt Children's Hospital, Nashville, Tennessee.
Rodney D NewberryDepartment of Internal Medicine, Washington University School of Medicine, St Louis, Missouri.
Bankole O OsuntokunDepartment of Pediatrics, Cook Children's Medical Center, Fort Worth, Texas.
Ashish S PatelDepartment of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas.
Shehzad A SaeedDivision of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Stephan R TarganF. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, California.
John F ValentineUniversity of Utah, Health Sciences, Salt Lake City, Utah.
Ming-Hsi WangDivision of Gastroenterology and Hepatology, Mayo Clinic Florida, Jacksonville, Florida.
Martin ZoncaDepartment of Internal Medicine, Henry Ford Health System, Detroit, Michigan.
John D RiouxDepartment of Medicine, Université de Montréal and the Montreal Heart Institute Research Center, Montreal, Quebec, Canada.
Richard H DuerrDepartment of Medicine and Clinical and Translational Science Institute, School of Medicine and Department of Human Genetics, Graduate School of Public Health; University of Pittsburgh, Pittsburgh, Pennsylvania.
Mark S SilverbergDepartment of Medicine, Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, University of Toronto, Toronto, Toronto, Ontario, Canada.
Judy H ChoMedicine and Genetics, Icahn School of Medicine at Mount Sinai, Charles Bronfman Institute for Personalized Medicine, New York, New York.
Hakon HakonarsonCenter for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Michael E ZwickDepartment of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
Dermot P B McGovernF. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, California.
Subra KugathasanDepartment of Pediatrics, Emory University School of Medicine, Atlanta, Georgia; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia. Electronic address: skugath@emory.edu.
Emory University · USChildren's Hospital of Philadelphia · USCedars-Sinai Medical Center · USJohns Hopkins University · USCincinnati Children's Hospital Medical Center · USJohns Hopkins Medicine · USMedical University of South Carolina · USThe University of Texas Southwestern Medical Center · USUniversity of Maryland, Baltimore · USUniversity of North Carolina at Chapel Hill · USWashington University in St. Louis · USBaylor College of Medicine · USCase Western Reserve University · USComer Children's Hospital · USConnecticut Children's Medical Center · USCook Children's Medical Center · USHenry Ford Health System · USIcahn School of Medicine at Mount Sinai · USJacksonville College · USKaiser Permanente · US
Funding
Using polygenic scores to enhance both variant discovery, and understanding of functional consequences of genetic variation in IBD.P01DK046763 · NIDDK · CEDARS-SINAI MEDICAL CENTER · PI TARGAN, STEPHAN R. · 1992 to 2020
$31.1MStem Cell/Organoid and Genome Editing CoreP30DK078392 · NIDDK · CINCINNATI CHILDRENS HOSP MED CTR · PI Alexander Miethke · 2007 to 2026
$24.4MInflammatory Bowel Disease Genetics Consortium Data Coordinating CenterU01DK062429 · NIDDK · YALE UNIVERSITY · PI CHO, JUDY H. · 2002 to 2016
$16.8MPrecision IBD via genetics and genomics: integrating International and multi-omic datasets, expanding studies in diverse populations, and defining mechanisms of unmet clinical needs in IBDU24DK062429 · NIDDK · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Ling-shiang Chuang, Ron Do · 2017 to 2026
$13.9MUtilizing the Phenomics of IBD to Enhance Gene DiscoveryU01DK062413 · NIDDK · CEDARS-SINAI MEDICAL CENTER · PI Dermot Patrick McGovern · 2002 to 2026
$12.2MTranslational Research Enhancement CoreP30DK089502 · NIDDK · JOHNS HOPKINS UNIVERSITY · PI ZACHOS, NICHOLAS CONSTANTINE · 2011 to 2020
$12.0MThe Role of HLA and KIR in Rheumatoid Arthritis and Crohn's DiseaseU01AI067068 · NIAID · STANFORD UNIVERSITY · PI ERLICH, HENRY A, TRACHTENBERG, ELIZABETH A · 2005 to 2014
$10.9MYale University Inflammatory Bowel Disease Genetics Research CenterU01DK062422 · NIDDK · YALE UNIVERSITY · PI Ling-shiang Chuang · 2002 to 2026
$10.8MIBD Gene Mapping by Clinical and Population SubsetsU01DK062431 · NIDDK · RUTGERS BIOMEDICAL AND HEALTH SCIENCES · PI Steven R Brant · 2002 to 2026
$10.7MGene discoveries in subjects with Crohn's disease of African descentR01DK087694 · NIDDK · EMORY UNIVERSITY · PI KUGATHASAN, SUBRA · 2011 to 2023
$10.3MUniversite de Montreal IBD Genetics Research CenterU01DK062432 · NIDDK · WHITEHEAD INSTITUTE FOR BIOMEDICAL RES · PI John D. Rioux · 2002 to 2026
$9.6MNIDDK IBD Genetics Consortium Genetic Research CenterU01DK062420 · NIDDK · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI DUERR, RICHARD H · 2002 to 2021
$7.8MNIAID NIH HHS U01 AI067068NIDCR NIH HHS U54 DE023789NIDDK NIH HHS P01 DK046763NIDDK NIH HHS P30 DK078392NIDDK NIH HHS P30 DK089502NIDDK NIH HHS R01 DK087694NIDDK NIH HHS U01 DK062413NIDDK NIH HHS U01 DK062420NIDDK NIH HHS U01 DK062422NIDDK NIH HHS U01 DK062423NIDDK NIH HHS U01 DK062429NIDDK NIH HHS U01 DK062431NIDDK NIH HHS U01 DK062432NIDDK NIH HHS U24 DK062429
Abstract
BACKGROUND &
aimsThe inflammatory bowel diseases (IBD) ulcerative colitis (UC) and Crohn's disease (CD) cause significant morbidity and are increasing in prevalence among all populations, including African Americans. More than 200 susceptibility loci have been identified in populations of predominantly European ancestry, but few loci have been associated with IBD in other ethnicities.
methodsWe performed 2 high-density, genome-wide scans comprising 2345 cases of African Americans with IBD (1646 with CD, 583 with UC, and 116 inflammatory bowel disease unclassified) and 5002 individuals without IBD (controls, identified from the Health Retirement Study and Kaiser Permanente database). Single-nucleotide polymorphisms (SNPs) associated at P < 5.0 × 10
resultsWe detected SNPs at HLA-DRB1, and African-specific SNPs at ZNF649 and LSAMP, with associations of genome-wide significance for UC. We detected SNPs at USP25 with associations of genome-wide significance for IBD. No associations of genome-wide significance were detected for CD. In addition, 9 genes previously associated with IBD contained SNPs with significant evidence for replication (P < 1.6 × 10
conclusionsWe performed a genome-wide association study of African Americans with IBD and identified loci associated with UC in only this population; we also replicated IBD, CD, and UC loci identified in European populations. The detection of variants associated with IBD risk in only people of African descent demonstrates the importance of studying the genetics of IBD and other complex diseases in populations beyond those of European ancestry.
Indexed as
Adenylyl CyclasesBlack or African AmericanCase-Control StudiesCell Adhesion Molecules, NeuronalColitis, UlcerativeCrohn DiseaseGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotyping TechniquesGPI-Linked ProteinsHLA-DQ alpha-ChainsHLA-DRB1 ChainsHumansInterleukin-12 Subunit p40KCNQ2 Potassium ChannelPolymorphism, Single Nucleotideadenylate cyclase 3Adenylyl CyclasesCell Adhesion Molecules, NeuronalCXCR6 protein, humanGPI-Linked ProteinsHLA-DQA1 antigenHLA-DQ alpha-ChainsHLA-DRB1 ChainsIL12B protein, humanIL23R protein, humanInterleukin-12 Subunit p40KCNQ2 Potassium ChannelKCNQ2 protein, humanlimbic system-associated membrane proteinPTGER4 protein, humanReceptors, ChemokineReceptors, CXCR6Receptors, InterleukinReceptors, Prostaglandin E, EP4 SubtypeReceptors, VirusRepressor ProteinsSNX20 protein, humanSorting NexinsTenascinUbiquitin ThiolesteraseUSP25 protein, humanZNF649 protein, humanGenetic AnalysisRisk FactorSNPTrans-Ethnic
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