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GWAS of stool frequ...
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Bonfiglio, FerdinandoKarolinska Institutet
(författare)
GWAS of stool frequency provides insights into gastrointestinal motility and irritable bowel syndrome
- Artikel/kapitelEngelska2021
Förlag, utgivningsår, omfång ...
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Cambridge, MA, United States :Elsevier,2021
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printrdacarrier
Nummerbeteckningar
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LIBRIS-ID:oai:DiVA.org:su-206655
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https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-206655URI
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https://doi.org/10.1016/j.xgen.2021.100069DOI
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https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-185194URI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:234957435URI
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https://gup.ub.gu.se/publication/334706URI
Kompletterande språkuppgifter
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Språk:engelska
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Sammanfattning på:engelska
Ingår i deldatabas
Klassifikation
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Ämneskategori:ref swepub-contenttype
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Ämneskategori:art swepub-publicationtype
Anmärkningar
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Funding agencies: he Swedish Research Council (VR 2017-02403), the Health Department of the Basque Government (2015111133), and the Spanish Ministry of Economy and Competitiveness (FIS PI17/00308) to M.D.; the research leading to these results has received funding from the EU FP7 under grant nr. 313010 (BBMRI-LPC); the FGFP project received support from the Flemish government (IWT130359), the Research Fund–Flanders (FWO) Odysseus program (G.0924.09), the King Baudouin Foundation (2012-J80000-004), FP7 METACARDIS HEALTH-F4-2012-305312, VIB, the Rega Institute for Medical Research, and KU Leuven. R.B. is funded by the Research Fund–Flanders (FWO) through a postdoctoral fellowship (1221620N). A.Z. is supported by the ERC Starting Grant 715772, Netherlands Organization for Scientific Research NWO-VIDI grant 016.178.056, the Netherlands Heart Foundation CVON grant 2018-27, and the NWO Gravitation grant ExposomeNL 024.004.017.
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Gut dysmotility is associated with constipation, diarrhea, and functional gastrointestinal disorders like irritable bowel syndrome (IBS), although its molecular underpinnings are poorly characterized. We studied stool frequency (defined by the number of bowel movements per day, based on questionnaire data) as a proxy for gut motility in a GWAS meta-analysis including 167,875 individuals from UK Biobank and four smaller population-based cohorts. We identify 14 loci associated with stool frequency (p ≤ 5.0 × 10-8). Gene set and pathway analyses detected enrichment for genes involved in neurotransmitter/neuropeptide signaling and preferentially expressed in enteric motor neurons controlling peristalsis. PheWAS identified pleiotropic associations with dysmotility syndromes and the response to their pharmacological treatment. The genetic architecture of stool frequency correlates with that of IBS, and UK Biobank participants from the top 1% of stool frequency polygenic score distribution were associated with 5× higher risk of IBS with diarrhea. These findings pave the way for the identification of actionable pathological mechanisms in IBS and the dysmotility syndromes.
Ämnesord och genrebeteckningar
Biuppslag (personer, institutioner, konferenser, titlar ...)
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Liu, XingrongKarolinska Institutet
(författare)
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Smillie, ChristopherKlarman Cell Observatory, Broad Institute, Cambridge, MA, USA
(författare)
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Pandit, AnitaDepartment of Biostatistics, University of Michigan, School of Public Health, Ann Arbor, MI, USA
(författare)
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Kurilshikov, AlexanderDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands
(författare)
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Bacigalupe, RodrigoDepartment of Microbiology and Immunology, Rega Instituut, KU Leuven, Leuven, Belgium; Center for Microbiology, VIB, Leuven 3000, Belgium
(författare)
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Zheng, TenghaoSchool of Biological Sciences, Monash University, Clayton, VIC, Australia; Unit of Clinical Epidemiology, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden; Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
(författare)
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Nim, HieuSchool of Biological Sciences, Monash University, Clayton, VIC, Australia
(författare)
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Garcia-Etxebarria, KoldoDepartment of Gastrointestinal and Liver Diseases, Biodonostia HRI, San Sebastian, Spain
(författare)
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Bujanda, LuisDepartment of Gastrointestinal and Liver Diseases, Biodonostia HRI, San Sebastian, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Madrid, Spain; Universidad del País Vasco (UPV/EHU), San Sebastian, Spain
(författare)
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Andreasson, Anna,1980-Karolinska Institutet,Stockholms universitet,Stressforskningsinstitutet,Division of Clinical Medicine, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden,MRC Integrative Epidemiology Unit at University of Bristol, Bristol, UK; Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK,IBD Pharmacogenetics, College of Medicine and Health, University of Exeter, Exeter, UK(Swepub:su)anan6088
(författare)
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Agreus, LarsDivision of Family Medicine and Primary Care, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden
(författare)
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Walter, Susanna,1969-Linköpings universitet,Avdelningen för inflammation och infektion,Medicinska fakulteten,Region Östergötland, Mag- tarmmedicinska kliniken(Swepub:liu)suswa35
(författare)
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Abecasis, GonçaloDepartment of Biostatistics, University of Michigan, School of Public Health, Ann Arbor, MI, USA
(författare)
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Eijsbouts, ChrisWellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK
(författare)
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Jostins, LukeKennedy Institute of Rheumatology, University of Oxford, Oxford, UK; Christ Church, University of Oxford, Oxford, UK
(författare)
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Parkes, MilesDivision of Gastroenterology, Department of Medicine, University of Cambridge, Cambridge, UK
(författare)
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Hughes, David A.
(författare)
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Timpson, NicholasMRC Integrative Epidemiology Unit at University of Bristol, Bristol, UK; Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK
(författare)
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Raes, JeroenDepartment of Microbiology and Immunology, Rega Instituut, KU Leuven, Leuven, Belgium; Center for Microbiology, VIB, Leuven 3000, Belgium
(författare)
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Franke, AndreInstitute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany
(författare)
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Kennedy, Nicholas A.
(författare)
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Regev, AvivKlarman Cell Observatory, Broad Institute, Cambridge, MA, USA
(författare)
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Zhernakova, AlexandraDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands
(författare)
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Simrén, Magnus,1966Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition(Swepub:gu)xsimrm
(författare)
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Camilleri, MichaelClinical Enteric Neuroscience Translational and Epidemiological Research (CENTER) and Division of Gastroenterology and Hepatology, Department of Medicine, Mayo Clinic, Rochester, MN, USA
(författare)
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D’Amato, MauroKarolinska Institutet
(författare)
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Karolinska InstitutetKlarman Cell Observatory, Broad Institute, Cambridge, MA, USA
(creator_code:org_t)
Sammanhörande titlar
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Ingår i:Cell GenomicsCambridge, MA, United States : Elsevier1:32666-979X
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Till lärosätets databas
- Av författaren/redakt...
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Bonfiglio, Ferdi ...
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Liu, Xingrong
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Smillie, Christo ...
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Pandit, Anita
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Kurilshikov, Ale ...
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Bacigalupe, Rodr ...
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visa fler...
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Zheng, Tenghao
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Nim, Hieu
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Garcia-Etxebarri ...
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Bujanda, Luis
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Andreasson, Anna ...
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Agreus, Lars
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Walter, Susanna, ...
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Abecasis, Gonçal ...
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Eijsbouts, Chris
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Jostins, Luke
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Parkes, Miles
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Hughes, David A.
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Timpson, Nichola ...
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Raes, Jeroen
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Franke, Andre
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Kennedy, Nichola ...
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Regev, Aviv
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Zhernakova, Alex ...
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Simrén, Magnus, ...
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Camilleri, Micha ...
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D’Amato, Mauro
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