ArticleAmerican journal of human genetics2021
Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease.
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Article in American journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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33citing papers in PubMed
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Who cites it
33 citing papers in PubMed, 43 citations in OpenAlex.
- Racial Difference in Efficacy of Golimumab in Ulcerative Colitis.Inflammatory bowel diseases · 2023Trial
- Single-Cell and Spatial Transcriptomics Across Populations With Perianal Fistulizing Crohn's Disease Shows Proinflammatory CD4Cellular and molecular gastroenterology and hepatology · 2026Article
- IBD Care Across Diverse Patient Populations: Changing the Narrative.Digestive diseases and sciences · 2026Review
- Additive effects of common and rare genetic variants on inflammatory bowel disease risk in a cohort with immunodeficiency.The Journal of allergy and clinical immunology · 2026Article
- Genomic Insights Into Inflammatory Bowel Disease in United States Hispanic Participants: An Ancestry-Focused Study.Gastroenterology · 2026Article
- Inflammatory bowel diseases: pathological mechanisms and therapeutic perspectives.Molecular biomedicine · 2026Review
- 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
- The SERPINB4 gene mutation identified in twin patients with Crohn's disease impaires the intestinal epithelial cell functions.Scientific reports · 2025Article
- Eleven Grand Challenges for Inflammatory Bowel Disease Genetics and Genomics.Inflammatory bowel diseases · 2025Review
- Deciphering the immunocellular regulatory network in inflammatory bowel disease: from susceptibility genes to cellular effectors and toward precision therapies.Frontiers in immunology · 2025Review
- Genetic association betweenFrontiers in genetics · 2025Article
- PTGER4 signaling regulates class IIa HDAC function and SPINK4 mRNA levels in rectal epithelial cells.Cell communication and signaling : CCS · 2024Article
- Multimodal single-cell analyses reveal mechanisms of perianal fistula in diverse patients with Crohn's disease.Med (New York, N.Y.) · 2024Article
- The Contribution of Genetic and Epigenetic Factors: An Emerging Concept in the Assessment and Prognosis of Inflammatory Bowel Diseases.International journal of molecular sciences · 2024Review
- Biostatistical Aspects of Whole Genome Sequencing Studies: Preprocessing and Quality Control.Biometrical journal. Biometrische Zeitschrift · 2024Article
- Challenges in IBD Research 2024: Preclinical Human IBD Mechanisms.Inflammatory bowel diseases · 2024Review
- Concordant B and T Cell Heterogeneity Inferred from the Multiomic Landscape of Peripheral Blood Mononuclear Cells in a Crohn's Disease Cohort.Journal of Crohn's & colitis · 2024Article
- The relationship between extreme inter-individual variation in macrophage gene expression and genetic susceptibility to inflammatory bowel disease.Human genetics · 2024Article
- Persistent Inflammation of the Rectum in Perianal Fistulizing Crohn's Disease Is Associated With Goblet Cell Function.Gastro hep advances · 2024Review
- Mesenchymal Stromal Cells: New Generation Treatment of Inflammatory Bowel Disease.Journal of inflammation research · 2024Review
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Authors and funding
58 authors at 20 institutions in 2 countries.
Hari K SomineniGenetics and Molecular Biology Program, Emory University, Atlanta, GA 30322, USA; Division of Pediatric Gastroenterology, Department of Pediatrics, Emory University School of Medicine & Children's Healthcare of Atlanta, Atlanta, GA 30322, USA.
Sini NagpalCenter for Integrative Genomics, Georgia Institute of Technology, Atlanta, GA 30332, USA.
Suresh VenkateswaranDivision of Pediatric Gastroenterology, Department of Pediatrics, Emory University School of Medicine & Children's Healthcare of Atlanta, Atlanta, GA 30322, USA.
David J CutlerDepartment of Human Genetics, Emory University, Atlanta, GA 30322, USA.
David T OkouDivision of Pediatric Gastroenterology, Department of Pediatrics, Emory University School of Medicine & Children's Healthcare of Atlanta, Atlanta, GA 30322, USA.
Talin HarituniansF. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Claire L SimpsonDepartment of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN 38163, USA.
Ferdouse BegumMeyerhoff Inflammatory Bowel Disease Center, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Lisa W DattaMeyerhoff Inflammatory Bowel Disease Center, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Antonio J QuirosDepartment of Pediatrics, Medical University of South Carolina, Pediatric Center for Inflammatory Bowel Disorders, Summerville, SC 29485, USA.
Jenifer SeminerioDepartment of Gastroenterology, Medical University of South Carolina Digestive Disease Center, Charleston, SC 29425, USA.
Emebet MengeshaF. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Jonathan S AlexanderDepartment of Molecular and Cellular Physiology, Louisiana State University Health Sciences Center, Shreveport, LA 71103, USA.
Robert N BaldassanoDepartment of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Sharon Dudley-BrownDepartment of Medicine, Johns Hopkins University Schools of Medicine & Nursing, Baltimore, MD 21205, USA.
Raymond K CrossDepartment of Medicine, University of Maryland School of Medicine, Baltimore, MD 21201, USA.
Themistocles DassopoulosBaylor Scott and White Center for Inflammatory Bowel Diseases, Texas A&M University, Dallas, TX 75202, USA.
Lee A DensonDivision of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Tanvi A DhereDepartment of Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA.
Heba IskandarDepartment of Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA.
Gerald W DrydenDepartment of Medicine, University of Louisville, Louisville, KY 40202, USA.
Jason K HouDepartment of Medicine, Baylor College of Medicine, Houston, TX 77030, USA.
Sunny Z HussainDepartment of Pediatrics, Willis-Knighton Physician Network, Shreveport, LA 71101, USA.
Jeffrey S HyamsConnecticut Children's Medical Center, Hartford, CT 06106, USA.
Kim L IsaacsDepartment of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Howard KaderDepartment of Pediatrics, University of Maryland School of Medicine, Baltimore, MD 21201, USA.
Michael D KappelmanDepartment of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA.
Jeffry KatzCase Western Reserve University, Cleveland, OH 44106, USA.
Richard KellermayerSection of Pediatric Gastroenterology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.
John F KuemmerleDivision of Gastroenterology, Hepatology and Nutrition, Medical College of Virginia Campus of Virginia Commonwealth University, Richmond, VA 23284, USA.
Mark LazarevDepartment of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Ellen LiDepartment of Medicine, Stony Brook University School of Medicine, Stony Brook, NY 11794, USA.
Peter MannonDepartment of Medicine, University of Alabama at Birmingham, Birmingham, AL 35233, USA.
Dedrick E MoultonVanderbilt Children's Hospital, Nashville, TN 37232, USA.
Rodney D NewberryDepartment of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
Ashish S PatelDepartment of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Joel PekowDepartment of Pediatrics, University of Chicago Comer Children's Hospital, Chicago, IL 60637, USA.
Shehzad A SaeedDayton Children's Hospital, Dayton, OH 45404, USA.
John F ValentineUniversity of Utah, Health Sciences, Salt Lake City, UT 84132, USA.
Ming-Hsi WangDivision of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN 55905, USA.
Jacob L McCauleyJohn P. Hussman Institute for Human Genomics, Leonard M. Miller School of Medicine, University of Miami, Miami, FL 33136 USA; The Dr. John T. Macdonald Foundation Department of Human Genetics, Leonard M. Miller School of Medicine, University of Miami, Miami, FL 33136, USA.
Maria T AbreuDivision of Gastroenterology, Department of Medicine, Leonard M. Miller School of Medicine, University of Miami, Miami, FL 33136, USA; Department of Microbiology and Immunology, Leonard M. Miller School of Medicine, University of Miami, Miami, FL 33136, USA.
Traci JesterDepartment of Pediatrics, UAB Medicine, Birmingham, AL 35233, USA.
Zarela Molle-RiosPediatric Gastroenterology and Nutrition, Nemours duPont Hospital for Children, DE 19803, USA.
Sirish PalleDepartment of Pediatrics, Oklahoma University School of Medicine, Oklahoma City, OK 73104, USA.
Ellen J ScherlGastroenterology and Hepatology, Jill Roberts Center for IBD, Weill Cornell Medicine, New York, NY 10065, USA.
John KwonUT Southwestern Department of Internal Medicine, Dallas, TX 75390, USA.
John D RiouxDepartment of Medicine, Université de Montréal and the Montreal Heart Institute Research Center, Montreal, QC H1Y3N1, Canada.
Richard H DuerrHuman Genetics, and Clinical and Translational Science, Pittsburgh, PA 15213, USA.
Mark S SilverbergDepartment of Medicine, Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, University of Toronto, Toronto, ON M5T3L9, Canada.
Michael E ZwickDepartment of Human Genetics, Emory University, Atlanta, GA 30322, USA.
Christine StevensAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02115, USA.
Mark J DalyAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02115, USA.
Judy H ChoCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Greg GibsonCenter for Integrative Genomics, Georgia Institute of Technology, Atlanta, GA 30332, USA.
Dermot P B McGovernF. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Steven R BrantThe Human Genetics Institute of New Jersey, Rutgers University, New Brunswick and Piscataway, NJ 08854, USA.
Subra KugathasanGenetics and Molecular Biology Program, Emory University, Atlanta, GA 30322, USA; Division of Pediatric Gastroenterology, Department of Pediatrics, Emory University School of Medicine & Children's Healthcare of Atlanta, Atlanta, GA 30322, USA. Electronic address: skugath@emory.edu.
Emory University · USJohns Hopkins University · USCedars-Sinai Medical Center · USBaylor College of Medicine · USGeorgia Institute of Technology · USHarvard University · USMedical University of South Carolina · USUniversity of Maryland, Baltimore · USUniversity of Miami · USUniversity of North Carolina at Chapel Hill · USBaylor Medical Center at Garland · USCase Western Reserve University · USChildren's Hospital of Philadelphia · USCincinnati Children's Hospital Medical Center · USComer Children's Hospital · USCommunity Health Systems - Dupont Hospital · USConnecticut Children's Medical Center · USCornell University · USDayton Children's Hospital · USIcahn School of Medicine at Mount Sinai · US
Funding
Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6MCenter for Common Disease GeneticsUM1HG008895 · NHGRI · BROAD INSTITUTE, INC. · PI DALY, MARK JOSEPH, GABRIEL, STACEY · 2016 to 2020
$111.2MPilot & Feasibility ProgramP30DK043351 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI Ramnik J Xavier · 1991 to 2026
$35.3MUsing polygenic scores to enhance both variant discovery, and understanding of functional consequences of genetic variation in IBD.P01DK046763 · NIDDK · CEDARS-SINAI MEDICAL CENTER · PI MCGOVERN, DERMOT PATRICK · 1992 to 2020
$31.1MULTRASTRUCTURE AND CYTOMORPHOLOGY COREP30DK042086 · NIDDK · UNIVERSITY OF CHICAGO · PI CHANG, EUGENE B · 1990 to 2025
$29.8MInflammatory 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
$12.2MThe 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
$10.3MNHGRI NIH HHS U54 HG003067NHGRI NIH HHS UM1 HG008895NIAID NIH HHS U01 AI067068NIDCR NIH HHS U54 DE023789NIDDK NIH HHS P01 DK046763NIDDK NIH HHS P30 DK042086NIDDK NIH HHS P30 DK043351NIDDK 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
Whether or not populations diverge with respect to the genetic contribution to risk of specific complex diseases is relevant to understanding the evolution of susceptibility and origins of health disparities. Here, we describe a large-scale whole-genome sequencing study of inflammatory bowel disease encompassing 1,774 affected individuals and 1,644 healthy control Americans with African ancestry (African Americans). Although no new loci for inflammatory bowel disease are discovered at genome-wide significance levels, we identify numerous instances of differential effect sizes in combination with divergent allele frequencies. For example, the major effect at PTGER4 fine maps to a single credible interval of 22 SNPs corresponding to one of four independent associations at the locus in European ancestry individuals but with an elevated odds ratio for Crohn disease in African Americans. A rare variant aggregate analysis implicates Ca
Indexed as
Genetic Predisposition to DiseaseAgedAged, 80 and overBlack or African AmericanCalbindin 2Colitis, UlcerativeCrohn DiseaseFemaleGene FrequencyGenome-Wide Association StudyHumansInflammatory Bowel DiseasesMaleMultifactorial InheritancePolymorphism, Single NucleotideReceptors, Prostaglandin E, EP4 SubtypeCALB2 protein, humanCalbindin 2PTGER4 protein, humanReceptors, Prostaglandin E, EP4 SubtypeCALB2differential genetic architecturepolygenic risk scoresPTGER4rare variantstrans-ethnic comparative analysisunderstudied populationswhole-genome sequencing of African Americans
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