SynthesisGut2023
Genetic coding variant in complement factor B (CFB) is associated with increased risk for perianal Crohn's disease and leads to impaired CFB cleavage and phagocytosis.
Open access · greenAbstract readMeta-Analysis
In one paragraph
Synthesis in Gut, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
5.9field-weighted citation impact, top 4% 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
15 citing papers in PubMed, 19 citations in OpenAlex.
- Article
- Complement factor B deficiency promotes lung cancer progression via FOS-mediated tryptophan metabolism and immune suppression.Communications medicine · 2026Article
- Exonic Variation in HLA-C, CFB, and TAP2 Associated With Increased Risk for Comorbid Crohn's Disease and Psoriasis.International journal of dermatology · 2026Article
- Beyond the Skin: Can Genetic Variants Predict Crohn's Disease in Psoriasis Patients?International journal of dermatology · 2026Article
- Mucosally sourced complement factor B modulates the host response to colitis.bioRxiv : the preprint server for biology · 2026Article
- The role of the complement system in gastrointestinal-related diseases.Frontiers in immunology · 2026Review
- Virus-derived serpin reduces immuno-coagulopathic damage in murine colitis by targeting the urokinase-type plasminogen activator receptor (uPAR) and complement.Scientific reports · 2025Article
- Genetic Variation in the Alternative Complement Pathway Contributes to Individual Susceptibility to Bacteremia and Sepsis.Critical care explorations · 2025Article
- Development, opportunities, and challenges of siRNA nucleic acid drugs.Molecular therapy. Nucleic acids · 2025Review
- The Causal Relationships and Therapeutic Targets of Plasma Proteins in Ankylosing Spondylitis.Biomedicines · 2025Article
- Local complement activation and modulation in mucosal immunity.Mucosal immunology · 2024Review
- Challenges in IBD Research 2024: Preclinical Human IBD Mechanisms.Inflammatory bowel diseases · 2024Review
- The Genetics of Inflammatory Bowel Disease.Molecular diagnosis & therapy · 2024Review
- Unraveling breast cancer prognosis: a novel model based on coagulation-related genes.Frontiers in molecular biosciences · 2024Article
- The latest breakthrough on genetic characteristics of inflammatory bowel disease in Chinese and other East Asian ancestries.Precision clinical medicine · 2023Article
Corrections and comments
- Commented on by
Authors and funding
45 authors at 14 institutions in 2 countries.
Marzieh Akhlaghpour *F. Widjaja Inflammatory Bowel Disease Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Talin Haritunians *F. Widjaja Inflammatory Bowel Disease Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Shyam K MoreF. Widjaja Inflammatory Bowel Disease Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Lisa S ThomasF. Widjaja Inflammatory Bowel Disease Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Dalton T StampsF. Widjaja Inflammatory Bowel Disease Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Shishir DubeF. Widjaja Inflammatory Bowel Disease Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Dalin LiF. Widjaja Inflammatory Bowel Disease Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Shaohong YangF. Widjaja Inflammatory Bowel Disease Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Carol J LandersF. Widjaja Inflammatory Bowel Disease Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Emebet MengeshaF. Widjaja Inflammatory Bowel Disease Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Hussein HamadeF. Widjaja Inflammatory Bowel Disease Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.ORCID 0000-0002-4063-8821
Ramachandran MuraliDepartment of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Alka A PotdarF. Widjaja Inflammatory Bowel Disease Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Andrea J WolfF. Widjaja Inflammatory Bowel Disease Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Gregory J BotwinF. Widjaja Inflammatory Bowel Disease Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Michelle KhromF. Widjaja Inflammatory Bowel Disease Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.
International IBD Genetics Consortium
Ashwin N AnanthakrishnanDivision of Gastroenterology, Massachusetts General Hospital, Boston, Massachusetts, USA.ORCID 0000-0002-9436-1821
William A FaubionGastroenterology, Mayo Clinic, Rochester, Minnesota, USA.
Bana JabriBiological Sciences Division, University of Chicago, Pritzker School of Medicine, Chicago, Illinois, USA.
Sergio A LiraImmunology Institute, Mount Sinai Medical Center, New York, New York, USA.ORCID 0000-0002-6742-3089
Rodney D NewberryDivision of Gastroenterology, Washington Univ. Sch. of Medicine, Saint Louis, Missouri, USA.
Robert S SandlerCenter for Gastrointestinal Biology and Disease, University of North Carolina, Chapel Hill, North Carolina, USA.
R Balfour SartorCenter for Gastrointestinal Biology and Disease, University of North Carolina, Chapel Hill, North Carolina, USA.
Ramnik J XavierBroad Institute Harvard, Cambridge, Massachusetts, USA.
Steven R BrantRutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.
Judy H ChoGenetics and Genomics Sciences, Mt Sinai School of Medicine, New York, New York, USA.ORCID 0000-0002-7959-0466
Richard H DuerrDepartments of Medicine and Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Mark G LazarevDepartment of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
John D RiouxFaculty of Medicine, Universite de Montreal, Montreal, Québec, Canada.
L Philip SchummDept of Health Studies, University of Chicago, Chicago, Illinois, USA.
Mark S SilverbergDivision of Gastroenterology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
Karen ZaghiyanDivision of Colorectal Surgery, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Phillip FleshnerDivision of Colorectal Surgery, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Gil Y MelmedF. Widjaja Inflammatory Bowel Disease Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Eric A VasiliauskasF. Widjaja Inflammatory Bowel Disease Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Christina HaF. Widjaja Inflammatory Bowel Disease Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Shervin RabizadehDepartment of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Gaurav SyalF. Widjaja Inflammatory Bowel Disease Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Nirupama N BonthalaF. Widjaja Inflammatory Bowel Disease Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.
David A ZiringDepartment of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Stephan R TarganF. Widjaja Inflammatory Bowel Disease Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Millie D LongMedicine, University of North Carolina, Chapel Hill, North Carolina, USA.
Dermot P B McGovern *F. Widjaja Inflammatory Bowel Disease Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA kathrin.michelsen@cshs.org Dermot.McGovern@cshs.org.
Kathrin S Michelsen *F. Widjaja Inflammatory Bowel Disease Institute, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA kathrin.michelsen@cshs.org Dermot.McGovern@cshs.org.ORCID 0000-0002-4974-6992
Cedars-Sinai Medical Center · USUniversity of North Carolina at Chapel Hill · USUniversity of Chicago · USBroad Institute · USIcahn School of Medicine at Mount Sinai · USJohns Hopkins University · USMassachusetts General Hospital · USMayo Clinic · USMount Sinai Hospital · CAMount Sinai Medical Center · USRutgers, The State University of New Jersey · USUniversité de Montréal · CAUniversity of Pittsburgh · USWashington University in St. Louis · US
Funding
Pilot & 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
$29.8MUtilizing the Phenomics of IBD to Enhance Gene DiscoveryU01DK062413 · NIDDK · CEDARS-SINAI MEDICAL CENTER · PI Dermot Patrick McGovern · 2002 to 2026
$12.2MIBD Gene Mapping by Clinical and Population SubsetsU01DK062431 · NIDDK · RUTGERS BIOMEDICAL AND HEALTH SCIENCES · PI Steven R Brant · 2002 to 2026
$10.7MNIDDK IBD Genetics Consortium Genetic Research CenterU01DK062420 · NIDDK · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI DUERR, RICHARD H · 2002 to 2021
$7.8MImpact of Genetic Variability on Cellular Pathways and Host-Microbiome InteractioU01DK062423 · NIDDK · SINAI HEALTH SYSTEM · PI MARK S. SILVERBERG · 2002 to 2026
$7.5MMechanisms associated with flares and remission in colitisR01DK110352 · NIDDK · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI LIRA, SERGIO A. · 2017 to 2025
$5.1MSeptins in intestinal fibrosisR01DK132038 · NIDDK · CLEVELAND CLINIC LERNER COM-CWRU · PI Andrei Ivanovich Ivanov, Florian Rieder · 2023 to 2026
$2.5MMechanisms associated with diet-induced colitisR01DK121009 · NIDDK · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI LIRA, SERGIO A. · 2020 to 2023
$2.4MProbing short and long term consequences of Small and Large Bowel Microbiota Transplants on Host Physiology: Implications for the development of future live biotherapeuticsR01DK138072 · NIDDK · UNIVERSITY OF CHICAGO · PI EUGENE B CHANG, Kristina Brooke Martinez-Guryn · 2024 to 2026
$2.1MCreeping fat and Crohn's disease associated stricturesR01DK123233 · NIDDK · CLEVELAND CLINIC LERNER COM-CWRU · PI RIEDER, FLORIAN · 2020 to 2024
$1.9MNIDDK NIH HHS P01 DK046763NIDDK NIH HHS P30 DK042086NIDDK NIH HHS P30 DK043351NIDDK NIH HHS R01 DK110352NIDDK NIH HHS R01 DK121009NIDDK NIH HHS R01 DK123233NIDDK NIH HHS R01 DK132038NIDDK NIH HHS R01 DK138072NIDDK NIH HHS U01 DK062413NIDDK NIH HHS U01 DK062420NIDDK NIH HHS U01 DK062423NIDDK NIH HHS U01 DK062431
Abstract
objectivePerianal Crohn's disease (pCD) occurs in up to 40% of patients with CD and is associated with poor quality of life, limited treatment responses and poorly understood aetiology. We performed a genetic association study comparing CD subjects with and without perianal disease and subsequently performed functional follow-up studies for a pCD associated SNP in
designImmunochip-based meta-analysis on 4056 pCD and 11 088 patients with CD from three independent cohorts was performed. Serological and clinical variables were analysed by regression analyses. Risk allele of rs4151651 was introduced into human CFB plasmid by site-directed mutagenesis. Binding of recombinant G252 or S252 CFB to C3b and its cleavage was determined in cell-free assays. Macrophage phagocytosis in presence of recombinant CFB or serum from
resultsPerianal complications were associated with colonic involvement, OmpC and ASCA serology, and serology quartile sum score. We identified a genetic association for pCD (rs4151651), a non-synonymous SNP (G252S) in
conclusionpCD-associated rs4151651 in
Indexed as
Complement Factor BCrohn DiseaseFollow-Up StudiesHumansPhagocytosisQuality of LifeComplement Factor BIBD - GENETICSINFLAMMATORY BOWEL DISEASEMETA-ANALYSIS
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.