Evidence map›Paper›PMID 29626450›Full record

ArticleGastroenterology2018

Female-Specific Association Between Variants on Chromosome 9 and Self-Reported Diagnosis of Irritable Bowel Syndrome.

Ferdinando Bonfiglio, Tenghao Zheng, Koldo Garcia-Etxebarria, Fatemeh Hadizadeh, Luis Bujanda, Francesca Bresso, Lars Agreus, Anna Andreasson, Aldona Dlugosz, Greger Lindberg and 26 more

Open access · bronzeAbstract read
In one paragraph

Article in Gastroenterology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
42citing papers in PubMed, 2 pooled it
6.0field-weighted citation impact, top 3% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

42 citing papers in PubMed, 2 syntheses or guidelines pooled it, 81 citations in OpenAlex.

  1. The serotonin receptor 3E variant is a risk factor for female IBS-D.Journal of molecular medicine (Berlin, Germany) · 2022
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  19. Genetics of irritable bowel syndrome: shifting gear via biobank-scale studies.Nature reviews. Gastroenterology & hepatology · 2022
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

36 authors at 20 institutions in 8 countries.

Ferdinando BonfiglioUnit of Gastrointestinal Genetics, Department of Gastrointestinal and Liver Diseases, Biodonostia Health Research Institute, San Sebastián, Spain; Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden.
Tenghao ZhengDepartment of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden; Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Koldo Garcia-EtxebarriaUnit of Gastrointestinal Genetics, Department of Gastrointestinal and Liver Diseases, Biodonostia Health Research Institute, San Sebastián, Spain; Unit of Clinical Epidemiology, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden.
Fatemeh HadizadehDepartment of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden.
Luis BujandaUnit of Gastrointestinal Genetics, Department of Gastrointestinal and Liver Diseases, Biodonostia Health Research Institute, San Sebastián, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas, Universidad del País Vasco, San Sebastián, Spain.
Francesca BressoGastoenterology Unit, Tema inflammation and infection, Karolinska University Hospital, Stockholm, Sweden.
Lars AgreusDivision for Family Medicine and Primary Care, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
Anna AndreassonDivision for Family Medicine and Primary Care, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden; Stress Research Institute, Stockholm University, Stockholm, Sweden.
Aldona DlugoszDepartment of Medicine Solna, Karolinska Institutet, Center for Digestive Diseases, Karolinska University Hospital, Stockholm, Sweden.
Greger LindbergDepartment of Medicine Solna, Karolinska Institutet, Center for Digestive Diseases, Karolinska University Hospital, Stockholm, Sweden.
Peter T SchmidtDepartment of Medicine Solna, Karolinska Institutet, Center for Digestive Diseases, Karolinska University Hospital, Stockholm, Sweden.
Pontus KarlingDivision of Medicine, Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden.
Bodil OhlssonLund University, Skåne University Hospital, Department of Internal Medicine, Lund, Sweden.
Magnus SimrenDepartment of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Susanna WalterDivision of Neuro and Inflammation Science, Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden.
Gerardo NardoneGastroenterology Unit, Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy.
Rosario CuomoDigestive Motility Diseases, Department of Clinical Medicine and Surgery, Federico II University Hospital, Naples, Italy.
Paolo Usai-SattaSC Gastroenterologia, Azienda Ospedaliera G. Brotzu, Cagliari, Italy.
Francesca GaleazziUOC Gastroenterologia, Padova University Hospital, Padova, Italy.
Matteo NeriDepartment of Medicine and Aging Sciences and Center for Excellence on Aging, G. D'Annunzio University and Foundation, Chieti, Italy.
Piero PortincasaDepartment of Biomedical Sciences and Human Oncology, Clinica Medica A. Murri, University of Bari Medical School, Bari, Italy.
Massimo BelliniGastroenterology Unit, Department of Gastroenterology, University of Pisa, Pisa, Italy.
Giovanni BarbaraDepartment of Medical and Surgical Sciences, University of Bologna, St. Orsola, Malpighi Hospital, Bologna, Italy.
Anna LatianoDivision of Gastroenterology, Istituto di Ricovero e Cura a Carattere Scientifico, Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy.
Matthias HübenthalInstitute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.
Vincent ThijsFlorey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia.
Mihai G NeteaDepartment of Internal Medicine and Radboud Center of Infectious Diseases, Radboud University Medical Center, Nijmegen, The Netherlands; Department for Genomics and Immunoregulation, Life and Medical Sciences Institute, University of Bonn, Bonn, Germany.
Daisy JonkersDepartment of Internal Medicine, Nutrition and Toxicology Research Institute Maastricht, School for Nutrition and Translational Research in Metabolism, Maastricht University Medical Center+, Maastricht, The Netherlands.
Lin ChangG. Oppenheimer Center for Neurobiology of Stress and Resilience, Vatche and Tamar Manoukian Division of Digestive Diseases, David Geffen School of Medicine at University of California-Los Angeles, Los Angeles, California.
Emeran A MayerG. Oppenheimer Center for Neurobiology of Stress and Resilience, Vatche and Tamar Manoukian Division of Digestive Diseases, David Geffen School of Medicine at University of California-Los Angeles, Los Angeles, California.
Mira M WoutersTranslational Research Center for Gastro Intestinal Disorders, Katholieke Universiteit Leuven, Leuven, Belgium.
Guy BoeckxstaensTranslational Research Center for Gastro Intestinal Disorders, Katholieke Universiteit Leuven, Leuven, Belgium.
Michael CamilleriClinical Enteric Neuroscience Translational and Epidemiological Research, and Division of Gastroenterology and Hepatology, Department of Medicine, Mayo Clinic, Rochester, Minnesota.
Andre FrankeInstitute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.
Alexandra ZhernakovaDepartment of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
Mauro D'AmatoUnit of Gastrointestinal Genetics, Department of Gastrointestinal and Liver Diseases, Biodonostia Health Research Institute, San Sebastián, Spain; Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Unit of Clinical Epidemiology, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden; Ikerbasque, Basque Science Foundation, Bilbao, Spain. Electronic address: mauro.damato@ki.se.
Karolinska Institutet · SEKarolinska University Hospital · SEBiogipuzkoa Health Research Institute · ESFederico II University Hospital · ITKiel University · DEKU Leuven · BEUniversity of California, Los Angeles · USAzienda Ospedaliera G. Brotzu · ITCasa Sollievo della Sofferenza · ITFlorey Institute of Neuroscience and Mental Health · AULinköping University · SELund University · SEMaastricht University · NLMayo Clinic · USRadboud University Medical Center · NLUmeå University · SEUniversity Medical Center Groningen · NLUniversity of Bari Aldo Moro · ITUniversity of Bologna · ITUniversity of Chieti-Pescara · IT

Funding

Pilot and Feasibility ProgramP30DK041301 · NIDDK · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ROZENGURT, JUAN ENRIQUE · 1990 to 2019
$18.0M
Women's Health and Functional Visceral Disorders CenterP50DK064539 · NIDDK · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MAYER, EMERAN A · 2002 to 2017
$17.5M
PERCEPTION AND MODULATION OF VISCERAL SENSATIONSR01DK048351 · NIDDK · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MAYER, EMERAN A · 1996 to 2019
$8.2M
Medical Research Council MC_PC_17228Medical Research Council MC_QA137853NIDDK NIH HHS P30 DK041301NIDDK NIH HHS P50 DK064539NIDDK NIH HHS R01 DK048351Wellcome Trust
6 · The paper itself

Abstract

BACKGROUND &

aimsGenetic factors are believed to affect risk for irritable bowel syndrome (IBS), but there have been no sufficiently powered and adequately sized studies. To identify DNA variants associated with IBS risk, we performed a genome-wide association study (GWAS) of the large UK Biobank population-based cohort, which includes genotype and health data from 500,000 participants.

methodsWe studied 7,287,191 high-quality single nucleotide polymorphisms in individuals who self-reported a doctor's diagnosis of IBS (cases; n = 9576) compared to the remainder of the cohort (controls; n = 336,499) (mean age of study subjects, 40-69 years). Genome-wide significant findings were further investigated in 2045 patients with IBS from tertiary centers and 7955 population controls from Europe and the United States, and a small general population sample from Sweden (n = 249). Functional annotation of GWAS results was carried out by integrating data from multiple biorepositories to obtain biological insights from the observed associations.

resultsWe identified a genome-wide significant association on chromosome 9q31.2 (single nucleotide polymorphism rs10512344; P = 3.57 × 10

conclusionsIn a sufficiently powered GWAS of IBS, we associated variants at the locus 9q31.2 with risk of IBS in women. This observation may provide additional rationale for investigating the role of sex hormones and autonomic dysfunction in IBS.

Indexed as

AdultAgedChromosomes, Human, Pair 9ConstipationEuropeFemaleGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyGenotypeHumansIrritable Bowel SyndromeMaleMenarcheMiddle AgedPolymorphism, Single NucleotideBiobank ResearchBowel SymptomsGeneticsSNP

Identifiers

PMID29626450
PMCPMC6035117
OpenAlexW2796338032

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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 OpenQuestion graph.