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Genetic variants in CDC42 and NXPH1 as susceptibility factors for constipation and diarrhoea predominant irritable bowel syndrome
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- Wouters, Mira M. (author)
- Translational Research Center for Gastrointestinal Disorders, Leuven University, Leuven, Belgium
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- Lambrechts, Diether (author)
- Vesalius Research Center, VIB, Leuven University, Leuven, Belgium; Laboratory for Translational Genetics, Department of Oncology, Leuven University, Leuven, Belgium
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- Knapp, Michael (author)
- Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany
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- Cleynen, Isabelle (author)
- Translational Research Center for Gastrointestinal Disorders, Leuven University, Leuven, Belgium
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- Whorwell, Peter (author)
- Department of Medicine, University of Manchester, Manchester, UK
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- Agreus, Lars (author)
- Centre for Family Medicine, Karolinska Institutet, Stockholm, Sweden
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- Dlugosz, Aldona (author)
- Karolinska Institutet
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- Schmidt, Peter Thelin (author)
- Karolinska Institutet
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- Halfvarson, Jonas, 1970- (author)
- Örebro universitet,Institutionen för läkarutbildning,Region Örebro län,Department of Internal Medicine
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- Simrén, Magnus, 1966 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition
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- Ohlsson, Bodil (author)
- Lund 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
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- Karling, Pontus (author)
- Umeå universitet,Medicin
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- Van Wanrooy, Sander (author)
- Translational Research Center for Gastrointestinal Disorders, Leuven University, Leuven, Belgium
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- Mondelaers, Stephanie (author)
- Translational Research Center for Gastrointestinal Disorders, Leuven University, Leuven, Belgium
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- Vermeire, Severine (author)
- Translational Research Center for Gastrointestinal Disorders, Leuven University, Leuven, Belgium
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- Lindberg, Greger (author)
- Karolinska Institutet
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- Spiller, Robin (author)
- Queen's Medical Centre, Nottingham, UK
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- Dukes, George (author)
- Academic DPU, GlaxoSmithKline, Research Triangle Park, Durham NC, USA
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- D'Amato, Mauro (author)
- Karolinska Institutet
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- Boeckxstaens, Guy (author)
- Translational Research Center for Gastrointestinal Disorders, Leuven University, Leuven, Belgium
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(creator_code:org_t)
- 2013-09-16
- 2014
- English.
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In: Gut. - : BMJ. - 0017-5749 .- 1468-3288. ; 63:7, s. 1103-1111
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http://dx.doi.org/10...
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Gastroenterologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Gastroenterology and Hepatology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- Internal Medicine
- Invärtesmedicin
Publication and Content Type
- ref (subject category)
- art (subject category)
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Gut
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- By the author/editor
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Wouters, Mira M.
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Lambrechts, Diet ...
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Knapp, Michael
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Cleynen, Isabell ...
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Whorwell, Peter
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Agreus, Lars
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Dlugosz, Aldona
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Schmidt, Peter T ...
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Halfvarson, Jona ...
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Simrén, Magnus, ...
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Ohlsson, Bodil
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Karling, Pontus
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Van Wanrooy, San ...
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Mondelaers, Step ...
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Vermeire, Severi ...
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Lindberg, Greger
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Spiller, Robin
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Dukes, George
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D'Amato, Mauro
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Boeckxstaens, Gu ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Gastroenterology ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Gut
- By the university
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Örebro University
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Umeå University
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Lund University
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University of Gothenburg
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Karolinska Institutet