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Sökning: L773:0017 5749 OR L773:1468 3288 > Schmidt Peter T.

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Numrering	Referens	Omslagsbild	Hitta
1.	Ek, Weronica E, et al. (författare) Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts. 2015 Ingår i: Gut. - : BMJ. - 1468-3288 .- 0017-5749. ; 64, s. 1774-1782 Tidskriftsartikel (refereegranskat)abstract IBS shows genetic predisposition, but adequately powered gene-hunting efforts have been scarce so far. We sought to identify true IBS genetic risk factors by means of genome-wide association (GWA) and independent replication studies.
2.	Henström, Maria, et al. (författare) TRPM8 polymorphisms associated with increased risk of IBS-C and IBS-M 2017 Ingår i: Gut. - : BMJ PUBLISHING GROUP. - 0017-5749 .- 1468-3288. ; 66:9, s. 1725- Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract n/a
3.	Schafmayer, Clemens, et al. (författare) Genome-wide association analysis of diverticular disease points towards neuromuscular, connective tissue and epithelial pathomechanisms 2019 Ingår i: Gut. - : BMJ. - 0017-5749 .- 1468-3288. ; 68:5, s. 854-865 Tidskriftsartikel (refereegranskat)abstract Objective Diverticular disease is a common complex disorder characterised by mucosal outpouchings of the colonic wall that manifests through complications such as diverticulitis, perforation and bleeding. We report the to date largest genome-wide association study (GWAS) to identify genetic risk factors for diverticular disease. Design Discovery GWAS analysis was performed on UK Biobank imputed genotypes using 31 964 cases and 419 135 controls of European descent. Associations were replicated in a European sample of 3893 cases and 2829 diverticula-free controls and evaluated for risk contribution to diverticulitis and uncomplicated diverticulosis. Transcripts at top 20 replicating loci were analysed by real-time quatitative PCR in preparations of the mucosal, submucosal and muscular layer of colon. The localisation of expressed protein at selected loci was investigated by immunohistochemistry. Results We discovered 48 risk loci, of which 12 are novel, with genome-wide significance and consistent OR in the replication sample. Nominal replication (p< 0.05) was observed for 27 loci, and additional 8 in meta-analysis with a population-based cohort. The most significant novel risk variant rs9960286 is located near CTAGE1 with a p value of 2.3x10-10 and 0.002 (OR allelic = 1.14 (95% CI 1.05 to 1.24)) in the replication analysis. Four loci showed stronger effects for diverticulitis, PHGR1 (OR 1.32, 95% CI 1.12 to 1.56), FAM155A-2 (OR 1.21, 95% CI 1.04 to 1.42), CALCB (OR 1.17, 95% CI 1.03 to 1.33) and S100A10 (OR 1.17, 95% CI 1.03 to 1.33). Conclusion I n silico analyses point to diverticulosis primarily as a disorder of intestinal neuromuscular function and of impaired connective fibre support, while an additional diverticulitis risk might be conferred by epithelial dysfunction.
4.	Zucchelli, Marco, et al. (författare) Association of TNFSF15 polymorphism with irritable bowel syndrome. 2011 Ingår i: Gut. - London : BMJ. - 1468-3288 .- 0017-5749. ; 60:12, s. 1671-7 Tidskriftsartikel (refereegranskat)abstract Irritable bowel syndrome (IBS) is the most common gastrointestinal disorder, affecting more than 10% of the general population worldwide. Although a genetic component is suspected, unambiguous susceptibility genes have so far not been identified. This study tested the hypothesis that genes contributing to epithelial barrier integrity, control of mucosal immune responses and interactions with bacteria in the gut are associated with IBS.

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Resultat 1-4 av 4

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Typ av publikation: tidskriftsartikel (4)

Typ av innehåll: refereegranskat (3); övrigt vetenskapligt/konstnärligt (1)

Författare/redaktör: Schmidt, Peter T... (4)Ta bort avgränsningen; D'Amato, Mauro (4); Ohlsson, Bodil (3); Agréus, Lars (3); Lindberg, Greger (3); Andreasson, Anna (3); visa fler...; Karling, Pontus (3); Dlugosz, Aldona (3); Simrén, Magnus, 1966 (2); Talley, Nicholas J. (2); Zucchelli, Marco (2); Bresso, Francesca (2); Assadi, Ghazaleh (2); Walter, Susanna (2); Camilleri, Michael (2); Törnblom, Hans, 1966 (1); Kucharzik, Torsten (1); Halfvarson, Jonas, 1 ... (1); Gsur, Andrea (1); Burwinkel, Barbara (1); Pedersen, Nancy L (1); Palm, Stefan (1); Ek, Weronica E (1); Daly, Mark J. (1); Törkvist, Leif (1); Hampe, Jochen (1); Schafmayer, Clemens (1); Brezina, Stefanie (1); Buch, Stephan (1); Völzke, Henry (1); Bonfiglio, Ferdinand ... (1); Lieb, Wolfgang (1); Magnusson, Patrik (1); Schroeder, Michael (1); Holliday, Elizabeth ... (1); Kupcinskas, Juozas (1); Li, Ling (1); Beaumont, Robin N (1); Tyrrell, Jessica (1); Weedon, Michael N (1); Wood, Andrew R (1); Krawczak, Michael (1); Becker, Thomas (1); Franke, Andre (1); Beyder, Arthur (1); Gazouli, Maria (1); Bellini, Massimo (1); Barbara, Giovanni (1); Farrugia, Gianrico (1); Ripke, Stephan (1); visa färre...

Lärosäte: Stockholms universitet (4); Karolinska Institutet (4); Umeå universitet (3); Lunds universitet (3); Göteborgs universitet (2); Linköpings universitet (2); visa fler...; Uppsala universitet (1); Örebro universitet (1); visa färre...

Språk: Engelska (4)

Forskningsämne (UKÄ/SCB): Medicin och hälsovetenskap (4); Samhällsvetenskap (1)

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