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Sökning: id:"swepub:oai:DiVA.org:oru-36842" > Genetic variants in...

  • Wouters, Mira M.Translational Research Center for Gastrointestinal Disorders, Leuven University, Leuven, Belgium (författare)

Genetic variants in CDC42 and NXPH1 as susceptibility factors for constipation and diarrhoea predominant irritable bowel syndrome

  • Artikel/kapitelEngelska2014

Förlag, utgivningsår, omfång ...

  • 2013-09-16
  • BMJ,2014
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:oru-36842
  • https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-36842URI
  • https://doi.org/10.1136/gutjnl-2013-304570DOI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-91263URI
  • https://lup.lub.lu.se/record/4608925URI
  • https://gup.ub.gu.se/publication/189621URI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:129255536URI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • Funding Agencies:Fund for Scientific Research (FWO) Flanders, Belgium G.0699.10NFlemish government (Odysseus Program, FWO)Swedish Medical Research Council 13409, 21691, 21692DanoneAstraZeneca
  • Objective: The complex genetic aetiology underlying irritable bowel syndrome (IBS) needs to be assessed in large-scale genetic studies. Two independent IBS cohorts were genotyped to assess whether genetic variability in immune, neuronal and barrier integrity genes is associated with IBS.Design: 384 single nucleotide polymorphisms (SNPs) covering 270 genes were genotyped in an exploratory cohort (935 IBS patients, 639 controls). 33 SNPs with P-uncorrected<0.05 were validated in an independent set of 497 patients and 887 controls. Genotype distributions of single SNPs were assessed using an additive genetic model in IBS and clinical subtypes, IBS-C and IBS-D, both in individual and combined cohorts. Trait anxiety (N=614 patients, 533 controls), lifetime depression (N=654 patients, 533 controls) and mRNA expression in rectal biopsies (N=22 patients, 29 controls) were correlated with SNP genotypes.Results: Two SNPs associated independently in the exploratory and validation cohort: rs17837965-CDC42 with IBS-C (ORexploratory=1.59 (1.05 to 1.76); ORvalidation=1.76 (1.03 to 3.01)) and rs2349775-NXPH1 with IBS-D (ORexploratory=1.28 (1.06 to 1.56); ORvalidation=1.42 (1.08 to 1.88)). When combining both cohorts, the association of rs2349775 withstood post hoc correction for multiple testing in the IBS-D subgroup. Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13, rs2104286-IL2RA), one SNP in a neuronal gene (rs2349775-NXPH1) and two SNPs in epithelial genes (rs245051-SLC26A2, rs17837965-CDC42) were weakly associated with total-IBS (P-uncorrected<0.05). At the functional level, rs1881457 increased IL13 mRNA levels, whereas anxiety and depression scores did not correlate with rs2349775-NXPH1.Conclusions: Rs2349775 (NXPH1) and rs17837965 (CDC42) were associated with IBS-D and IBS-C, respectively, in two independent cohorts. Further studies are warranted to validate our findings and to determine the mechanisms underlying IBS pathophysiology.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Lambrechts, DietherVesalius Research Center, VIB, Leuven University, Leuven, Belgium; Laboratory for Translational Genetics, Department of Oncology, Leuven University, Leuven, Belgium (författare)
  • Knapp, MichaelInstitute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany (författare)
  • Cleynen, IsabelleTranslational Research Center for Gastrointestinal Disorders, Leuven University, Leuven, Belgium (författare)
  • Whorwell, PeterDepartment of Medicine, University of Manchester, Manchester, UK (författare)
  • Agreus, LarsCentre for Family Medicine, Karolinska Institutet, Stockholm, Sweden (författare)
  • Dlugosz, AldonaKarolinska Institutet (författare)
  • Schmidt, Peter ThelinKarolinska Institutet (författare)
  • Halfvarson, Jonas,1970-Örebro universitet,Institutionen för läkarutbildning,Region Örebro län,Department of Internal Medicine(Swepub:oru)jshn (författare)
  • 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(Swepub:gu)xsimrm (författare)
  • Ohlsson, BodilLund University,Lunds universitet,Enheten för kroniska inflammatoriska och degenerativa sjukdomar,Forskargrupper vid Lunds universitet,Chronic Inflammatory and Degenerative Diseases Research Unit,Lund University Research Groups(Swepub:lu)kir-boh (författare)
  • Karling, PontusUmeå universitet,Medicin(Swepub:umu)peakag84 (författare)
  • Van Wanrooy, SanderTranslational Research Center for Gastrointestinal Disorders, Leuven University, Leuven, Belgium (författare)
  • Mondelaers, StephanieTranslational Research Center for Gastrointestinal Disorders, Leuven University, Leuven, Belgium (författare)
  • Vermeire, SeverineTranslational Research Center for Gastrointestinal Disorders, Leuven University, Leuven, Belgium (författare)
  • Lindberg, GregerKarolinska Institutet (författare)
  • Spiller, RobinQueen's Medical Centre, Nottingham, UK (författare)
  • Dukes, GeorgeAcademic DPU, GlaxoSmithKline, Research Triangle Park, Durham NC, USA (författare)
  • D'Amato, MauroKarolinska Institutet (författare)
  • Boeckxstaens, GuyTranslational Research Center for Gastrointestinal Disorders, Leuven University, Leuven, Belgium (författare)
  • Translational Research Center for Gastrointestinal Disorders, Leuven University, Leuven, BelgiumVesalius Research Center, VIB, Leuven University, Leuven, Belgium; Laboratory for Translational Genetics, Department of Oncology, Leuven University, Leuven, Belgium (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Gut: BMJ63:7, s. 1103-11110017-57491468-3288

Internetlänk

Hitta via bibliotek

  • Gut (Sök värdpublikationen i LIBRIS)

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