Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

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Fältnamn	Indikatorer	Metadata
000		06904naa a2201549 4500
001		oai:gup.ub.gu.se/196439
003		SwePub
008		240528s2013 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:prod.swepub.kib.ki.se:126836665
024	7	a https://gup.ub.gu.se/publication/1964392 URI
024	7	a https://doi.org/10.1038/ng.26162 DOI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:1268366652 URI
040		a (SwePub)gud (SwePub)ki
041		a eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Liu, Jimmy Z4 aut
245	1 0	a Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.
264		c 2013-04-21
264	1	b Springer Science and Business Media LLC,c 2013
520		a Primary sclerosing cholangitis (PSC) is a severe liver disease of unknown etiology leading to fibrotic destruction of the bile ducts and ultimately to the need for liver transplantation. We compared 3,789 PSC cases of European ancestry to 25,079 population controls across 130,422 SNPs genotyped using the Immunochip. We identified 12 genome-wide significant associations outside the human leukocyte antigen (HLA) complex, 9 of which were new, increasing the number of known PSC risk loci to 16. Despite comorbidity with inflammatory bowel disease (IBD) in 72% of the cases, 6 of the 12 loci showed significantly stronger association with PSC than with IBD, suggesting overlapping yet distinct genetic architectures for these two diseases. We incorporated association statistics from 7 diseases clinically occurring with PSC in the analysis and found suggestive evidence for 33 additional pleiotropic PSC risk loci. Together with network analyses, these findings add to the genetic risk map of PSC and expand on the relationship between PSC and other immune-mediated diseases.
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
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Gastroenterologi0 (SwePub)302132 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Gastroenterology and Hepatology0 (SwePub)302132 hsv//eng
653		a Case-Control Studies
653		a Cholangitis
653		a Sclerosing
653		a genetics
653		a immunology
653		a Gene Frequency
653		a Genetic Loci
653		a immunology
653		a Genetic Pleiotropy
653		a Genome-Wide Association Study
653		a Genotyping Techniques
653		a Humans
653		a Linkage Disequilibrium
653		a Oligonucleotide Array Sequence Analysis
653		a Polymorphism
653		a Single Nucleotide
653		a Risk Factors
700	1	a Hov, Johannes Roksund4 aut
700	1	a Folseraas, Trine4 aut
700	1	a Ellinghaus, Eva4 aut
700	1	a Rushbrook, Simon M4 aut
700	1	a Doncheva, Nadezhda T4 aut
700	1	a Andreassen, Ole A4 aut
700	1	a Weersma, Rinse K4 aut
700	1	a Weismüller, Tobias J4 aut
700	1	a Eksteen, Bertus4 aut
700	1	a Invernizzi, Pietro4 aut
700	1	a Hirschfield, Gideon M4 aut
700	1	a Gotthardt, Daniel Nils4 aut
700	1	a Pares, Albert4 aut
700	1	a Ellinghaus, David4 aut
700	1	a Shah, Tejas4 aut
700	1	a Juran, Brian D4 aut
700	1	a Milkiewicz, Piotr4 aut
700	1	a Rust, Christian4 aut
700	1	a Schramm, Christoph4 aut
700	1	a Müller, Tobias4 aut
700	1	a Srivastava, Brijesh4 aut
700	1	a Dalekos, Georgios4 aut
700	1	a Nöthen, Markus M4 aut
700	1	a Herms, Stefan4 aut
700	1	a Winkelmann, Juliane4 aut
700	1	a Mitrovic, Mitja4 aut
700	1	a Braun, Felix4 aut
700	1	a Ponsioen, Cyriel Y4 aut
700	1	a Croucher, Peter J P4 aut
700	1	a Sterneck, Martina4 aut
700	1	a Teufel, Andreas4 aut
700	1	a Mason, Andrew L4 aut
700	1	a Saarela, Janna4 aut
700	1	a Leppa, Virpi4 aut
700	1	a Dorfman, Ruslan4 aut
700	1	a Alvaro, Domenico4 aut
700	1	a Floreani, Annarosa4 aut
700	1	a Onengut-Gumuscu, Suna4 aut
700	1	a Rich, Stephen S4 aut
700	1	a Thompson, Wesley K4 aut
700	1	a Schork, Andrew J4 aut
700	1	a Næss, Sigrid4 aut
700	1	a Thomsen, Ingo4 aut
700	1	a Mayr, Gabriele4 aut
700	1	a König, Inke R4 aut
700	1	a Hveem, Kristian4 aut
700	1	a Cleynen, Isabelle4 aut
700	1	a Gutierrez-Achury, Javier4 aut
700	1	a Ricaño-Ponce, Isis4 aut
700	1	a van Heel, David4 aut
700	1	a Björnsson, Einar,d 19584 aut
700	1	a Sandford, Richard N4 aut
700	1	a Durie, Peter R4 aut
700	1	a Melum, Espen4 aut
700	1	a Vatn, Morten H4 aut
700	1	a Silverberg, Mark S4 aut
700	1	a Duerr, Richard H4 aut
700	1	a Padyukov, Leonidu Karolinska Institutet4 aut
700	1	a Brand, Stephan4 aut
700	1	a Sans, Miquel4 aut
700	1	a Annese, Vito4 aut
700	1	a Achkar, Jean-Paul4 aut
700	1	a Boberg, Kirsten Muri4 aut
700	1	a Marschall, Hanns-Ulrich,d 1954u Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition4 aut0 (Swepub:gu)xmarsh
700	1	a Chazouillères, Olivier4 aut
700	1	a Bowlus, Christopher L4 aut
700	1	a Wijmenga, Cisca4 aut
700	1	a Schrumpf, Erik4 aut
700	1	a Vermeire, Severine4 aut
700	1	a Albrecht, Mario4 aut
700	1	a Rioux, John D4 aut
700	1	a Alexander, Graeme4 aut
700	1	a Bergquist, Annikau Karolinska Institutet4 aut
700	1	a Cho, Judy4 aut
700	1	a Schreiber, Stefan4 aut
700	1	a Manns, Michael P4 aut
700	1	a Färkkilä, Martti4 aut
700	1	a Dale, Anders M4 aut
700	1	a Chapman, Roger W4 aut
700	1	a Lazaridis, Konstantinos N4 aut
700	1	a Franke, Andre4 aut
700	1	a Anderson, Carl A4 aut
700	1	a Karlsen, Tom H4 aut
710	2	a Karolinska Institutetb Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition4 org
773	0	t Nature geneticsd : Springer Science and Business Media LLCg 45:6, s. 670-5q 45:6<670-5x 1546-1718x 1061-4036
856	4	u https://europepmc.org/articles/pmc3667736?pdf=render
856	4 8	u https://gup.ub.gu.se/publication/196439
856	4 8	u https://doi.org/10.1038/ng.2616
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:126836665

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Av författaren/redakt...: Liu, Jimmy Z; Hov, Johannes Ro ...; Folseraas, Trine; Ellinghaus, Eva; Rushbrook, Simon ...; Doncheva, Nadezh ...; visa fler...; Andreassen, Ole ...; Weersma, Rinse K; Weismüller, Tobi ...; Eksteen, Bertus; Invernizzi, Piet ...; Hirschfield, Gid ...; Gotthardt, Danie ...; Pares, Albert; Ellinghaus, Davi ...; Shah, Tejas; Juran, Brian D; Milkiewicz, Piot ...; Rust, Christian; Schramm, Christo ...; Müller, Tobias; Srivastava, Brij ...; Dalekos, Georgio ...; Nöthen, Markus M; Herms, Stefan; Winkelmann, Juli ...; Mitrovic, Mitja; Braun, Felix; Ponsioen, Cyriel ...; Croucher, Peter ...; Sterneck, Martin ...; Teufel, Andreas; Mason, Andrew L; Saarela, Janna; Leppa, Virpi; Dorfman, Ruslan; Alvaro, Domenico; Floreani, Annaro ...; Onengut-Gumuscu, ...; Rich, Stephen S; Thompson, Wesley ...; Schork, Andrew J; Næss, Sigrid; Thomsen, Ingo; Mayr, Gabriele; König, Inke R; Hveem, Kristian; Cleynen, Isabell ...; Gutierrez-Achury ...; Ricaño-Ponce, Is ...; van Heel, David; Björnsson, Einar ...; Sandford, Richar ...; Durie, Peter R; Melum, Espen; Vatn, Morten H; Silverberg, Mark ...; Duerr, Richard H; Padyukov, Leonid; Brand, Stephan; Sans, Miquel; Annese, Vito; Achkar, Jean-Pau ...; Boberg, Kirsten ...; Marschall, Hanns ...; Chazouillères, O ...; Bowlus, Christop ...; Wijmenga, Cisca; Schrumpf, Erik; Vermeire, Severi ...; Albrecht, Mario; Rioux, John D; Alexander, Graem ...; Bergquist, Annik ...; Cho, Judy; Schreiber, Stefa ...; Manns, Michael P; Färkkilä, Martti; Dale, Anders M; Chapman, Roger W; Lazaridis, Konst ...; Franke, Andre; Anderson, Carl A; Karlsen, Tom H; visa färre...

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