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Genome-wide associa...
Genome-wide association analysis of diverticular disease points towards neuromuscular, connective tissue and epithelial pathomechanisms
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Schafmayer, Clemens (author)
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Harrison, James William (author)
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Buch, Stephan (author)
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show more...
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- Lange, Christina (author)
- Karolinska Institutet
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Reichert, Matthias C. (author)
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Hofer, Philipp (author)
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Cossais, François (author)
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Kupcinskas, Juozas (author)
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von Schönfels, Witigo (author)
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Schniewind, Bodo (author)
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Kruis, Wolfgang (author)
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Tepel, Jürgen (author)
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Zobel, Myrko (author)
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Rosendahl, Jonas (author)
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Jacobi, Thorsten (author)
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Walther-Berends, Andreas (author)
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Schroeder, Michael (author)
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Vogel, Ilka (author)
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Sergeev, Petr (author)
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Boedeker, Hans (author)
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Hinrichsen, Holger (author)
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Volk, Andreas (author)
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Erk, Jens-Uwe (author)
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Burmeister, Greta (author)
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Hendricks, Alexander (author)
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Hinz, Sebastian (author)
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Wolff, Sebastian (author)
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Böttner, Martina (author)
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Wood, Andrew R. (author)
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Tyrrell, Jessica (author)
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Beaumont, Robin N. (author)
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Langheinrich, Melanie (author)
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Kucharzik, Torsten (author)
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Brezina, Stefanie (author)
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Huber-Schönauer, Ursula (author)
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Pietsch, Leonora (author)
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Noack, Laura Sophie (author)
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Brosch, Mario (author)
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Herrmann, Alexander (author)
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Thangapandi, Raghavan Veera (author)
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Schimming, Hans Wolfgang (author)
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Zeissig, Sebastian (author)
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Palm, Stefan (author)
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Focke, Gerd (author)
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- Andreasson, Anna (author)
- Stockholms universitet,Stressforskningsinstitutet,Karolinska Institutet, Sweden
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- Schmidt, Peter T. (author)
- Karolinska Institutet
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Weitz, Juergen (author)
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Krawczak, Michael (author)
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Völzke, Henry (author)
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Leeb, Gernot (author)
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Michl, Patrick (author)
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Lieb, Wolfgang (author)
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Grützmann, Robert (author)
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Franke, Andre (author)
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Lammert, Frank (author)
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Becker, Thomas (author)
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Kupcinskas, Limas (author)
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- D'Amato, Mauro (author)
- Karolinska Institutet
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Wedel, Thilo (author)
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Datz, Christian (author)
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Gsur, Andrea (author)
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Weedon, Michael N. (author)
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Hampe, Jochen (author)
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(creator_code:org_t)
- 2019-01-19
- 2019
- English.
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In: Gut. - : BMJ. - 0017-5749 .- 1468-3288. ; 68:5, s. 854-865
- Related links:
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https://ore.exeter.a...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
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- art (subject category)
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Schafmayer, Clem ...
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Harrison, James ...
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Buch, Stephan
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Lange, Christina
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Reichert, Matthi ...
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Hofer, Philipp
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show more...
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Cossais, Françoi ...
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Kupcinskas, Juoz ...
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von Schönfels, W ...
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Schniewind, Bodo
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Kruis, Wolfgang
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Tepel, Jürgen
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Zobel, Myrko
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Rosendahl, Jonas
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Jacobi, Thorsten
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Walther-Berends, ...
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Schroeder, Micha ...
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Vogel, Ilka
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Sergeev, Petr
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Boedeker, Hans
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Hinrichsen, Holg ...
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Volk, Andreas
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Erk, Jens-Uwe
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Burmeister, Gret ...
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Hendricks, Alexa ...
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Hinz, Sebastian
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Wolff, Sebastian
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Böttner, Martina
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Wood, Andrew R.
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Tyrrell, Jessica
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Beaumont, Robin ...
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Langheinrich, Me ...
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Kucharzik, Torst ...
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Brezina, Stefani ...
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Huber-Schönauer, ...
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Pietsch, Leonora
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Noack, Laura Sop ...
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Brosch, Mario
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Herrmann, Alexan ...
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Thangapandi, Rag ...
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Schimming, Hans ...
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Zeissig, Sebasti ...
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Palm, Stefan
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Focke, Gerd
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Andreasson, Anna
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Schmidt, Peter T ...
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Weitz, Juergen
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Krawczak, Michae ...
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Völzke, Henry
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Leeb, Gernot
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Michl, Patrick
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Lieb, Wolfgang
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Grützmann, Rober ...
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Franke, Andre
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Lammert, Frank
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Becker, Thomas
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Kupcinskas, Lima ...
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D'Amato, Mauro
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Wedel, Thilo
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Datz, Christian
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Gsur, Andrea
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Weedon, Michael ...
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Hampe, Jochen
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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 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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Stockholm University
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Karolinska Institutet