Genome-wide association analysis of diverticular disease points towards neuromuscular, connective tissue and epithelial pathomechanisms

↓ Direkt till sidans innehåll
↓ Direkt till sidans sekundära innehåll (sidomenyn)

Search: onr:"swepub:oai:DiVA.org:su-171174" > Genome-wide associa...

1 of 1
Previous record
Next record
To hitlist

LIBRIS Formathandbok (Information om MARC21)

Details
MARC

Fältnamn	Indikatorer	Metadata
000		05945naa a2201081 4500
001		oai:DiVA.org:su-171174
003		SwePub
008		190815s2019 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:prod.swepub.kib.ki.se:141197628
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-1711742 URI
024	7	a https://doi.org/10.1136/gutjnl-2018-3176192 DOI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:1411976282 URI
040		a (SwePub)sud (SwePub)ki
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Schafmayer, Clemens4 aut
245	1 0	a Genome-wide association analysis of diverticular disease points towards neuromuscular, connective tissue and epithelial pathomechanisms
264		c 2019-01-19
264	1	b BMJ,c 2019
338		a print2 rdacarrier
520		a 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.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
700	1	a Harrison, James William4 aut
700	1	a Buch, Stephan4 aut
700	1	a Lange, Christinau Karolinska Institutet4 aut
700	1	a Reichert, Matthias C.4 aut
700	1	a Hofer, Philipp4 aut
700	1	a Cossais, François4 aut
700	1	a Kupcinskas, Juozas4 aut
700	1	a von Schönfels, Witigo4 aut
700	1	a Schniewind, Bodo4 aut
700	1	a Kruis, Wolfgang4 aut
700	1	a Tepel, Jürgen4 aut
700	1	a Zobel, Myrko4 aut
700	1	a Rosendahl, Jonas4 aut
700	1	a Jacobi, Thorsten4 aut
700	1	a Walther-Berends, Andreas4 aut
700	1	a Schroeder, Michael4 aut
700	1	a Vogel, Ilka4 aut
700	1	a Sergeev, Petr4 aut
700	1	a Boedeker, Hans4 aut
700	1	a Hinrichsen, Holger4 aut
700	1	a Volk, Andreas4 aut
700	1	a Erk, Jens-Uwe4 aut
700	1	a Burmeister, Greta4 aut
700	1	a Hendricks, Alexander4 aut
700	1	a Hinz, Sebastian4 aut
700	1	a Wolff, Sebastian4 aut
700	1	a Böttner, Martina4 aut
700	1	a Wood, Andrew R.4 aut
700	1	a Tyrrell, Jessica4 aut
700	1	a Beaumont, Robin N.4 aut
700	1	a Langheinrich, Melanie4 aut
700	1	a Kucharzik, Torsten4 aut
700	1	a Brezina, Stefanie4 aut
700	1	a Huber-Schönauer, Ursula4 aut
700	1	a Pietsch, Leonora4 aut
700	1	a Noack, Laura Sophie4 aut
700	1	a Brosch, Mario4 aut
700	1	a Herrmann, Alexander4 aut
700	1	a Thangapandi, Raghavan Veera4 aut
700	1	a Schimming, Hans Wolfgang4 aut
700	1	a Zeissig, Sebastian4 aut
700	1	a Palm, Stefan4 aut
700	1	a Focke, Gerd4 aut
700	1	a Andreasson, Annau Stockholms universitet,Stressforskningsinstitutet,Karolinska Institutet, Sweden4 aut0 (Swepub:su)anan6088
700	1	a Schmidt, Peter T.u Karolinska Institutet4 aut
700	1	a Weitz, Juergen4 aut
700	1	a Krawczak, Michael4 aut
700	1	a Völzke, Henry4 aut
700	1	a Leeb, Gernot4 aut
700	1	a Michl, Patrick4 aut
700	1	a Lieb, Wolfgang4 aut
700	1	a Grützmann, Robert4 aut
700	1	a Franke, Andre4 aut
700	1	a Lammert, Frank4 aut
700	1	a Becker, Thomas4 aut
700	1	a Kupcinskas, Limas4 aut
700	1	a D'Amato, Maurou Karolinska Institutet4 aut
700	1	a Wedel, Thilo4 aut
700	1	a Datz, Christian4 aut
700	1	a Gsur, Andrea4 aut
700	1	a Weedon, Michael N.4 aut
700	1	a Hampe, Jochen4 aut
710	2	a Karolinska Institutetb Stressforskningsinstitutet4 org
773	0	t Gutd : BMJg 68:5, s. 854-865q 68:5<854-865x 0017-5749x 1468-3288
856	4	u https://ore.exeter.ac.uk/repository/bitstream/10871/35810/1/Manuscript_Diverticular_disease_GUT.pdf
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-171174
856	4 8	u https://doi.org/10.1136/gutjnl-2018-317619
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:141197628

Find in a library

Gut (Search for host publication in LIBRIS)

To the university's database

1 of 1
Previous record
Next record
To hitlist

Find more in SwePub

By the author/editor: Schafmayer, Clem ...; Harrison, James ...; Buch, Stephan; Lange, Christina; Reichert, Matthi ...; Hofer, Philipp; show more...; Cossais, Françoi ...; Kupcinskas, Juoz ...; von Schönfels, W ...; Schniewind, Bodo; Kruis, Wolfgang; Tepel, Jürgen; Zobel, Myrko; Rosendahl, Jonas; Jacobi, Thorsten; Walther-Berends, ...; Schroeder, Micha ...; Vogel, Ilka; Sergeev, Petr; Boedeker, Hans; Hinrichsen, Holg ...; Volk, Andreas; Erk, Jens-Uwe; Burmeister, Gret ...; Hendricks, Alexa ...; Hinz, Sebastian; Wolff, Sebastian; Böttner, Martina; Wood, Andrew R.; Tyrrell, Jessica; Beaumont, Robin ...; Langheinrich, Me ...; Kucharzik, Torst ...; Brezina, Stefani ...; Huber-Schönauer, ...; Pietsch, Leonora; Noack, Laura Sop ...; Brosch, Mario; Herrmann, Alexan ...; Thangapandi, Rag ...; Schimming, Hans ...; Zeissig, Sebasti ...; Palm, Stefan; Focke, Gerd; Andreasson, Anna; Schmidt, Peter T ...; Weitz, Juergen; Krawczak, Michae ...; Völzke, Henry; Leeb, Gernot; Michl, Patrick; Lieb, Wolfgang; Grützmann, Rober ...; Franke, Andre; Lammert, Frank; Becker, Thomas; Kupcinskas, Lima ...; D'Amato, Mauro; Wedel, Thilo; Datz, Christian; Gsur, Andrea; Weedon, Michael ...; Hampe, Jochen; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

Articles in the publication: Gut

By the university: Stockholm University; Karolinska Institutet

Search outside SwePub

Extend your search to:: Google; Google Book Search; Google Scholar

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

LIBRIS.kb.se