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  • Bonfiglio, F.Karolinska Institutet,Karolinska Institute,Biodonostia Health Research Institute,Biodonostia Hlth Res Inst, Spain; Karolinska Inst, Sweden (author)

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

  • Article/chapterEnglish2018

Publisher, publication year, extent ...

  • Elsevier BV,2018

Numbers

  • LIBRIS-ID:oai:gup.ub.gu.se/269364
  • https://gup.ub.gu.se/publication/269364URI
  • https://doi.org/10.1053/j.gastro.2018.03.064DOI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-150480URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-159129URI
  • https://lup.lub.lu.se/record/81cce975-7934-4054-a019-d00312f17ba4URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-150283URI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:138777180URI

Supplementary language notes

  • Language:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Funding Agencies|Swedish Research Council (Vetenskapsradet project) [2013-03862, 2017-02403]; Health Department of the Basque Government [2015111133]; Spanish Ministry of Economy and Competitiveness (Instituto Salud Carlos III grant) [FIS PI17/00308]; National Institutes of Health [P50 DK64539, R01 DK048351, P30 DK 41301]; EU [313010]; European Research Council [310372]; Spinoza Grant of the Netherlands Organization for Scientific Research
  • BACKGROUND & AIMS: Genetic 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. METHODS: We 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. RESULTS: We identified a genome-wide significant association on chromosome 9q31.2 (single nucleotide polymorphism rs10512344; P = 3.57 x 10(-8)) in a region previously linked to age at menarche, and 13 additional loci of suggestive significance (P < 5.0 x 10(-6)). Sex-stratified analyses revealed that the variants at 9q31.2 affect risk of IBS in women only (P = 4.29 x 10(-10) in 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 9q31.2 locus identified 8 candidate genes, including the elongator complex protein 1 gene (ELP1 or IKB-KAP), which is mutated in patients with familial dysautonomia. CONCLUSIONS: In 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.

Subject headings and genre

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  • Zheng, T. H.Karolinska Institutet,Karolinska Institute,Karolinska Inst, Sweden; Karolinska Inst, Sweden (author)
  • Garcia-Etxebarria, K.Karolinska Institute,Biodonostia Health Research Institute,Biodonostia Hlth Res Inst, Spain; Karolinska Inst, Sweden (author)
  • Hadizadeh, F.Karolinska Institute,Karolinska Inst, Sweden (author)
  • Bujanda, L.Biodonostia Health Research Institute,University of the Basque Country,Biodonostia Hlth Res Inst, Spain; Univ Basque Country, Spain (author)
  • Bresso, F.Karolinska Institutet (author)
  • Agreus, L.Karolinska Institutet,Karolinska Institute,Karolinska Inst, Sweden (author)
  • Andreasson, AnnaStockholm University,Karolinska Institute,Stockholms universitet,Stressforskningsinstitutet,Karolinska Institutet, Sweden,University of California, Los Angeles,Karolinska Inst, Sweden; Stockholm Univ, Sweden,Univ Calif Los Angeles, CA 90095 USA(Swepub:su)anan6088 (author)
  • Dlugosz, A.Karolinska Institutet,Karolinska Institute,Biodonostia Health Research Institute,Basque Foundation for Science,Biodonostia Hlth Res Inst, Spain; Karolinska Inst, Sweden; Karolinska Inst, Sweden; Ikerbasque, Spain (author)
  • Lindberg, G.Karolinska Institutet (author)
  • Schmidt, P. T.Karolinska Institutet (author)
  • Karling, PontusUmeå University,Umeå universitet,Medicin,Umea Univ, Sweden(Swepub:umu)peakag84 (author)
  • Ohlsson, BodilLund University,Lunds universitet,Internmedicin - epidemiologi,Forskargrupper vid Lunds universitet,Internal Medicine - Epidemiology,Lund University Research Groups,Skåne University Hospital,Lund Univ, Sweden(Swepub:lu)kir-boh (author)
  • 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,Sahlgrenska Academy,Univ Gothenburg, Sweden(Swepub:gu)xsimrm (author)
  • Walter, SusannaLinköpings universitet,Linköping University,Avdelningen för neuro- och inflammationsvetenskap,Medicinska fakulteten,Region Östergötland, Magtarmmedicinska kliniken(Swepub:liu)suswa35 (author)
  • Nardone, G.University of Naples Federico II,Univ Federico II, Italy (author)
  • Cuomo, R.University of Naples Federico II,Federico II Univ Hosp, Italy (author)
  • Usai-Satta, P.Azienda Ospedaliera Brotzu,Azienda Osped G Brotzu, Italy (author)
  • Galeazzi, F.University Hospital of Padua,Padova Univ Hosp, Italy (author)
  • Neri, M.University G.d'Annunzio of Chieti-Pescara,G DAnnunzio Univ and Fdn, Italy; G DAnnunzio Univ and Fdn, Italy (author)
  • Portincasa, P. (author)
  • Bellini, M.University of Pisa,Univ Pisa, Italy (author)
  • Barbara, G.St. Orsola-Malpighi University Hospital,Univ Bologna, Italy (author)
  • Latiano, A.Casa Sollievo della Sofferenza,Casa Sollievo Sofferenza Hosp, Italy (author)
  • Hubenthal, M.University of Kiel,Christian Albrechts Univ Kiel, Germany (author)
  • Thijs, V.Florey Institute of Neuroscience and Mental Health,Florey Inst Neurosci and Mental Hlth, Australia (author)
  • Netea, M. G.University of Bonn,Radboud University Nijmegen,Radboud Univ Nijmegen, Netherlands; Radboud Univ Nijmegen, Netherlands; Univ Bonn, Germany (author)
  • Jonkers, D.Maastricht University Medical Centre,Maastricht Univ, Netherlands (author)
  • Chang, L.University of California, Los Angeles,Univ Calif Los Angeles, CA 90095 USA (author)
  • Mayer, E. A. (author)
  • Wouters, M. M.Catholic University of Leuven,Katholieke Univ Leuven, Belgium (author)
  • Boeckxstaens, G.Catholic University of Leuven,Katholieke Univ Leuven, Belgium (author)
  • Camilleri, M.Mayo Clinic Minnesota,Mayo Clin, MN USA; Mayo Clin, MN USA (author)
  • Franke, A.University of Kiel,Christian Albrechts Univ Kiel, Germany (author)
  • Zhernakova, A.University Medical Center Groningen,Univ Med Ctr Groningen, Netherlands (author)
  • D'Amato, M. (author)
  • Karolinska InstituteBiodonostia Health Research Institute (creator_code:org_t)

Related titles

  • In:Gastroenterology: Elsevier BV155:1, s. 168-1790016-50851528-0012

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