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Sökning: onr:"swepub:oai:DiVA.org:su-206655" > GWAS of stool frequ...

GWAS of stool frequency provides insights into gastrointestinal motility and irritable bowel syndrome

Bonfiglio, Ferdinando (författare)
Karolinska Institutet
Liu, Xingrong (författare)
Karolinska Institutet
Smillie, Christopher (författare)
Klarman Cell Observatory, Broad Institute, Cambridge, MA, USA
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Pandit, Anita (författare)
Department of Biostatistics, University of Michigan, School of Public Health, Ann Arbor, MI, USA
Kurilshikov, Alexander (författare)
Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands
Bacigalupe, Rodrigo (författare)
Department of Microbiology and Immunology, Rega Instituut, KU Leuven, Leuven, Belgium; Center for Microbiology, VIB, Leuven 3000, Belgium
Zheng, Tenghao (författare)
School 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
Nim, Hieu (författare)
School of Biological Sciences, Monash University, Clayton, VIC, Australia
Garcia-Etxebarria, Koldo (författare)
Department of Gastrointestinal and Liver Diseases, Biodonostia HRI, San Sebastian, Spain
Bujanda, Luis (författare)
Department 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
Andreasson, Anna, 1980- (författare)
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
Agreus, Lars (författare)
Division of Family Medicine and Primary Care, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden
Walter, Susanna, 1969- (författare)
Linköpings universitet,Avdelningen för inflammation och infektion,Medicinska fakulteten,Region Östergötland, Mag- tarmmedicinska kliniken
Abecasis, Gonçalo (författare)
Department of Biostatistics, University of Michigan, School of Public Health, Ann Arbor, MI, USA
Eijsbouts, Chris (författare)
Wellcome 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
Jostins, Luke (författare)
Kennedy Institute of Rheumatology, University of Oxford, Oxford, UK; Christ Church, University of Oxford, Oxford, UK
Parkes, Miles (författare)
Division of Gastroenterology, Department of Medicine, University of Cambridge, Cambridge, UK
Hughes, David A. (författare)
Timpson, Nicholas (författare)
MRC Integrative Epidemiology Unit at University of Bristol, Bristol, UK; Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK
Raes, Jeroen (författare)
Department of Microbiology and Immunology, Rega Instituut, KU Leuven, Leuven, Belgium; Center for Microbiology, VIB, Leuven 3000, Belgium
Franke, Andre (författare)
Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany
Kennedy, Nicholas A. (författare)
Regev, Aviv (författare)
Klarman Cell Observatory, Broad Institute, Cambridge, MA, USA
Zhernakova, Alexandra (författare)
Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands
Simrén, Magnus, 1966 (författare)
Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition
Camilleri, Michael (författare)
Clinical Enteric Neuroscience Translational and Epidemiological Research (CENTER) and Division of Gastroenterology and Hepatology, Department of Medicine, Mayo Clinic, Rochester, MN, USA
D’Amato, Mauro (författare)
Karolinska Institutet
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 (creator_code:org_t)
Cambridge, MA, United States : Elsevier, 2021
2021
Engelska.
Ingår i: Cell Genomics. - Cambridge, MA, United States : Elsevier. - 2666-979X. ; 1:3
Relaterad länk:
https://doi.org/10.1...
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https://doi.org/10.1...
https://liu.diva-por... (primary) (Raw object)
https://urn.kb.se/re...
https://doi.org/10.1...
https://urn.kb.se/re...
http://kipublication...
https://gup.ub.gu.se...
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • 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

MEDICIN OCH HÄLSOVETENSKAP  -- Hälsovetenskap -- Folkhälsovetenskap, global hälsa, socialmedicin och epidemiologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Health Sciences -- Public Health, Global Health, Social Medicine and Epidemiology (hsv//eng)
SAMHÄLLSVETENSKAP  -- Psykologi (hsv//swe)
SOCIAL SCIENCES  -- Psychology (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Gastroenterologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Gastroenterology and Hepatology (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine (hsv//eng)

Nyckelord

GWAS
SNP
enteric nervous system
genetics
gut motility
irritable bowel syndrome
peristalsis
polygenic scores
psykologi
Psychology

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ref (ämneskategori)
art (ämneskategori)

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