Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/17397
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dc.contributor.authorBonfiglio, Ferdinando-
dc.contributor.authorZheng, Tenghao-
dc.contributor.authorGarcia-Etxebarria, Koldo-
dc.contributor.authorHadizadeh, Fatemeh-
dc.contributor.authorBujanda, Luis-
dc.contributor.authorBresso, Francesca-
dc.contributor.authorAgreus, Lars-
dc.contributor.authorAndreasson, Anna-
dc.contributor.authorDlugosz, Aldona-
dc.contributor.authorLindberg, Greger-
dc.contributor.authorSchmidt, Peter T-
dc.contributor.authorKarling, Pontus-
dc.contributor.authorOhlsson, Bodil-
dc.contributor.authorSimren, Magnus-
dc.contributor.authorWalter, Susanna-
dc.contributor.authorNardone, Gerardo-
dc.contributor.authorCuomo, Rosario-
dc.contributor.authorUsai-Satta, Paolo-
dc.contributor.authorGaleazzi, Francesca-
dc.contributor.authorNeri, Matteo-
dc.contributor.authorPortincasa, Piero-
dc.contributor.authorBellini, Massimo-
dc.contributor.authorBarbara, Giovanni-
dc.contributor.authorLatiano, Anna-
dc.contributor.authorHübenthal, Matthias-
dc.contributor.authorThijs, Vincent N-
dc.contributor.authorNetea, Mihai G-
dc.contributor.authorJonkers, Daisy-
dc.contributor.authorChang, Lin-
dc.contributor.authorMayer, Emeran A-
dc.contributor.authorWouters, Mira M-
dc.contributor.authorBoeckxstaens, Guy-
dc.contributor.authorCamilleri, Michael-
dc.contributor.authorFranke, Andre-
dc.contributor.authorZhernakova, Alexandra-
dc.contributor.authorD'Amato, Mauro-
dc.date2018-04-05-
dc.date.accessioned2018-04-10T23:45:42Z-
dc.date.accessioned2018-05-26T08:34:32Z-
dc.date.available2018-04-10T23:45:42Z-
dc.date.available2018-05-26T08:34:32Z-
dc.date.issued2018-07-
dc.identifier.citationGastroenterology 2018; 155(1): 168-179en_US
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/17397-
dc.description.abstractGenetic 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. We studied 7,287,191 high-quality single-nucleotide polymorphisms in individuals who self-reported a doctor's diagnosis of IBS (cases; m=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. We identified a genome-wide significant association on chromosome 9q31.2 (SNP rs10512344; P=3.57×10-8), in a region previously linked to age at menarche, and 13 additional loci of suggestive significance (P<5.0×10-6). Sex-stratified analyses revealed that the variants at 9q32.1 affect risk of IBS in only women (P=4.29×10-10in UK Biobank) and also associate with constipation-predominant IBS in women (P=.015 in the tertiary cohort) and harder stools in women (P=.0012 in the population-based sample). Functional annotation of the 9q32.1 locus identified 8 candidate genes, including the elongator complex protein 1 gene (ELP1 or IKBKAP), which is mutated in patients with familial dysautonomia. In a sufficiently powered GWAS of IBS, we associated variants at the locus 9q32.1 with risk of IBS in women. This observation may provide additional rationale for investigating the role of sex hormones and autonomic dysfunction in IBS.en_US
dc.language.isoeng-
dc.subjectSNPen_US
dc.subjectbiobank researchen_US
dc.subjectbowel symptomsen_US
dc.subjectgeneticsen_US
dc.titleFemale-specific Association Between Variants on Chromosome 9 and Self-reported Diagnosis of Irritable Bowel Syndrome.en_US
dc.typeJournal Articleen_US
dc.identifier.journaltitleGastroenterologyen_US
dc.identifier.affiliationIKERBASQUE, Basque Science Foundation, Bilbao, Spainen_US
dc.identifier.affiliationG. Oppenheimer Center for Neurobiology of Stress and Resilience, Vatche and Tamar Manoukian Division of Digestive Diseases, David Geffen School of Medicine at UCLA, UCLA, Los Angeles, CA, USAen_US
dc.identifier.affiliationThe Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australiaen_US
dc.identifier.affiliationDepartment of Internal Medicine, NUTRIM School for Nutrition and Translational Research in Metabolism, Maastricht University Medical Center+, Maastricht, The Netherlandsen_US
dc.identifier.affiliationTranslational Research Center for Gastro Intestinal Disorders (TARGID), KU Leuven, Leuven, Belgiumen_US
dc.identifier.affiliationInstitute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germanyen_US
dc.identifier.affiliationDepartment of Genetics, University Medical Center Groningen, Groningen, The Netherlandsen_US
dc.identifier.affiliationCenter for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Unit of Clinical Epidemiology, Department of Medicine Solna, Karolinska Institutet, Stockholm, Swedenen_US
dc.identifier.affiliationClinical Enteric Neuroscience Translational and Epidemiological Research (C.E.N.T.E.R.), and Division of Gastroenterology and Hepatology, Department of Medicine, Mayo Clinic, Rochester, MN, USAen_US
dc.identifier.affiliationUnit of Gastrointestinal Genetics, Department of Gastrointestinal and Liver Diseases, Biodonostia Health Research Institute, San Sebastián, Spainen_US
dc.identifier.affiliationDepartment of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Swedenen_US
dc.identifier.affiliationCenter for Molecular Medicine, Karolinska Institutet, Stockholm, Swedenen_US
dc.identifier.affiliationUnit of Clinical Epidemiology, Department of Medicine Solna, Karolinska Institutet, Stockholm, Swedenen_US
dc.identifier.affiliationCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd). Universidad del País Vasco (UPV/EHU), San Sebastián, Spain.en_US
dc.identifier.affiliationGastoenterology Unit, Tema inflammation and infection, Karolinska University Hospital, Stockholm, Swedenen_US
dc.identifier.affiliationDivision for Family Medicine and Primary Care, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Swedenen_US
dc.identifier.affiliationStress Research Institute, Stockholm University, Stockholm, Swedenen_US
dc.identifier.affiliationDepartment of Medicine Solna, Karolinska Institutet, Center for Digestive Diseases, Karolinska University Hospital, Stockholm, Swedenen_US
dc.identifier.affiliationDivision of Medicine, Department of Public Health and Clinical Medicine, Umeå University, Umeå, Swedenen_US
dc.identifier.affiliationDepartment of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Swedenen_US
dc.identifier.affiliationDivision of Neuro and Inflammation Science, Department of Clinical and Experimental Medicine, Linköping University, Linköping, Swedenen_US
dc.identifier.affiliationGastroenterology Unit, Department of Clinical Medicine and Surgery, University Federico II, Naples, Italyen_US
dc.identifier.affiliationDigestive Motility Diseases, Department of Clinical Medicine and Surgery, Federico II University Hospital, Naples, Italyen_US
dc.identifier.affiliationS.C. Gastroenterologia, Azienda Ospedaliera G. Brotzu, Cagliari, Italyen_US
dc.identifier.affiliationUOC Gastroenterologia, Padova University Hospital, Padova, Italyen_US
dc.identifier.affiliationDepartment of Medicine and Aging Sciences and CESI, G. D'Annunzio University & Foundation, Chieti, Italyen_US
dc.identifier.affiliationGastroenterology Unit, Department of Gastroenterology, University of Pisa, Pisa, Italyen_US
dc.identifier.affiliationDepartment of Medical and Surgical Sciences, University of Bologna, St. Orsola - Malpighi Hospital, Bologna, Italyen_US
dc.identifier.affiliationDivision of Gastroenterology, IRCCS "Casa Sollievo della Sofferenza" Hospital, San Giovanni Rotondo, Italyen_US
dc.identifier.affiliationDepartment of Internal Medicine and Radboud Center of Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, The Netherlandsen_US
dc.identifier.affiliationDepartment for Genomics & Immunoregulation, Life and Medical Sciences Institute (LIMES), University of Bonn, Bonn, Germanyen_US
dc.identifier.affiliationLund University, Skåne University Hospital, Department of Internal Medicine, Lund, Swedenen_US
dc.identifier.affiliationDepartment of Biomedical Sciences and Human Oncology (DIMO), Clinica Medica "A. Murri", University of Bari Medical School, Bari, Italyen_US
dc.identifier.affiliationEpilepsy Research Centreen_US
dc.identifier.doi10.1053/j.gastro.2018.03.064en_US
dc.type.contentTexten_US
dc.identifier.orcid0000-0002-6614-8417en_US
dc.identifier.pubmedid29626450-
dc.type.austinJournal Article-
local.name.researcherThijs, Vincent N
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.languageiso639-1en-
item.openairetypeJournal Article-
crisitem.author.deptNeurology-
crisitem.author.deptThe Florey Institute of Neuroscience and Mental Health-
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