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FältnamnIndikatorerMetadata
00010040naa a2201129 4500
001oai:gup.ub.gu.se/269364
003SwePub
008240910s2018 | |||||||||||000 ||eng|
009oai:DiVA.org:umu-150480
009oai:DiVA.org:su-159129
009oai:lup.lub.lu.se:81cce975-7934-4054-a019-d00312f17ba4
009oai:DiVA.org:liu-150283
009oai:prod.swepub.kib.ki.se:138777180
0247 a https://gup.ub.gu.se/publication/2693642 URI
0247 a https://doi.org/10.1053/j.gastro.2018.03.0642 DOI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1504802 URI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-1591292 URI
0247 a https://lup.lub.lu.se/record/81cce975-7934-4054-a019-d00312f17ba42 URI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-1502832 URI
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:1387771802 URI
040 a (SwePub)gud (SwePub)umud (SwePub)sud (SwePub)lud (SwePub)liud (SwePub)ki
041 a eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Bonfiglio, F.u Karolinska Institutet,Karolinska Institute,Biodonostia Health Research Institute,Biodonostia Hlth Res Inst, Spain; Karolinska Inst, Sweden4 aut
2451 0a Female-Specific Association Between Variants on Chromosome 9 and Self-Reported Diagnosis of Irritable Bowel Syndrome
264 1b Elsevier BV,c 2018
500 a 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
520 a 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.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Gastroenterologi0 (SwePub)302132 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Gastroenterology and Hepatology0 (SwePub)302132 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653 a SNP
653 a Biobank Research
653 a Genetics
653 a Bowel Symptoms
653 a functional gi disorders
653 a gender-related differences
653 a genome-wide
653 a association
653 a colonic transit
653 a metaanalysis
653 a risk
653 a age
653 a population
653 a genetics
653 a channelopathies
653 a Gastroenterology & Hepatology
653 a SNP
7001 a Zheng, T. H.u Karolinska Institutet,Karolinska Institute,Karolinska Inst, Sweden; Karolinska Inst, Sweden4 aut
7001 a Garcia-Etxebarria, K.u Karolinska Institute,Biodonostia Health Research Institute,Biodonostia Hlth Res Inst, Spain; Karolinska Inst, Sweden4 aut
7001 a Hadizadeh, F.u Karolinska Institute,Karolinska Inst, Sweden4 aut
7001 a Bujanda, L.u University of the Basque Country,Biodonostia Health Research Institute,Biodonostia Hlth Res Inst, Spain; Univ Basque Country, Spain4 aut
7001 a Bresso, F.u Karolinska Institutet4 aut
7001 a Agreus, L.u Karolinska Institutet,Karolinska Institute,Karolinska Inst, Sweden4 aut
7001 a Andreasson, Annau Stockholm 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 USA4 aut0 (Swepub:su)anan6088
7001 a Dlugosz, A.u Karolinska Institutet,Karolinska Institute,Basque Foundation for Science,Biodonostia Health Research Institute,Biodonostia Hlth Res Inst, Spain; Karolinska Inst, Sweden; Karolinska Inst, Sweden; Ikerbasque, Spain4 aut
7001 a Lindberg, G.u Karolinska Institutet4 aut
7001 a Schmidt, P. T.u Karolinska Institutet4 aut
7001 a Karling, Pontusu Umeå University,Umeå universitet,Medicin,Umea Univ, Sweden4 aut0 (Swepub:umu)peakag84
7001 a Ohlsson, Bodilu Lund University,Lunds universitet,Internmedicin - epidemiologi,Forskargrupper vid Lunds universitet,Internal Medicine - Epidemiology,Lund University Research Groups,Skåne University Hospital,Lund Univ, Sweden4 aut0 (Swepub:lu)kir-boh
7001 a Simrén, Magnus,d 1966u Gothenburg 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, Sweden4 aut0 (Swepub:gu)xsimrm
7001 a Walter, Susannau Linköpings universitet,Linköping University,Avdelningen för neuro- och inflammationsvetenskap,Medicinska fakulteten,Region Östergötland, Magtarmmedicinska kliniken4 aut0 (Swepub:liu)suswa35
7001 a Nardone, G.u University of Naples Federico II,Univ Federico II, Italy4 aut
7001 a Cuomo, R.u University of Naples Federico II,Federico II Univ Hosp, Italy4 aut
7001 a Usai-Satta, P.u Azienda Ospedaliera Brotzu,Azienda Osped G Brotzu, Italy4 aut
7001 a Galeazzi, F.u University Hospital of Padua,Padova Univ Hosp, Italy4 aut
7001 a Neri, M.u University G.d'Annunzio of Chieti-Pescara,G DAnnunzio Univ and Fdn, Italy; G DAnnunzio Univ and Fdn, Italy4 aut
7001 a Portincasa, P.4 aut
7001 a Bellini, M.u University of Pisa,Univ Pisa, Italy4 aut
7001 a Barbara, G.u St. Orsola-Malpighi University Hospital,Univ Bologna, Italy4 aut
7001 a Latiano, A.u Casa Sollievo della Sofferenza,Casa Sollievo Sofferenza Hosp, Italy4 aut
7001 a Hubenthal, M.u University of Kiel,Christian Albrechts Univ Kiel, Germany4 aut
7001 a Thijs, V.u Florey Institute of Neuroscience and Mental Health,Florey Inst Neurosci and Mental Hlth, Australia4 aut
7001 a Netea, M. G.u University of Bonn,Radboud University Nijmegen,Radboud Univ Nijmegen, Netherlands; Radboud Univ Nijmegen, Netherlands; Univ Bonn, Germany4 aut
7001 a Jonkers, D.u Maastricht University Medical Centre,Maastricht Univ, Netherlands4 aut
7001 a Chang, L.u University of California, Los Angeles,Univ Calif Los Angeles, CA 90095 USA4 aut
7001 a Mayer, E. A.4 aut
7001 a Wouters, M. M.u Catholic University of Leuven,Katholieke Univ Leuven, Belgium4 aut
7001 a Boeckxstaens, G.u Catholic University of Leuven,Katholieke Univ Leuven, Belgium4 aut
7001 a Camilleri, M.u Mayo Clinic Minnesota,Mayo Clin, MN USA; Mayo Clin, MN USA4 aut
7001 a Franke, A.u University of Kiel,Christian Albrechts Univ Kiel, Germany4 aut
7001 a Zhernakova, A.u University Medical Center Groningen,Univ Med Ctr Groningen, Netherlands4 aut
7001 a D'Amato, M.4 aut
7102 a Karolinska Instituteb Biodonostia Health Research Institute4 org
7730 t Gastroenterologyd : Elsevier BVg 155:1, s. 168-179q 155:1<168-179x 0016-5085x 1528-0012
8564 u http://www.gastrojournal.org/article/S0016508518304074/pdf
8564 u http://dx.doi.org/10.1053/j.gastro.2018.03.064y FULLTEXT
8564 8u https://gup.ub.gu.se/publication/269364
8564 8u https://doi.org/10.1053/j.gastro.2018.03.064
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-150480
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-159129
8564 8u https://lup.lub.lu.se/record/81cce975-7934-4054-a019-d00312f17ba4
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-150283
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:138777180

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