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

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Liu, Jimmy Z (author)

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

Article/chapterEnglish2013

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2013-04-21
Springer Science and Business Media LLC,2013

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LIBRIS-ID:oai:gup.ub.gu.se/196439
https://gup.ub.gu.se/publication/196439URI
https://doi.org/10.1038/ng.2616DOI
http://kipublications.ki.se/Default.aspx?queryparsed=id:126836665URI

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Language:English

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Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

Notes

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.

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper Medicinsk genetik hsv//swe
MEDICAL AND HEALTH SCIENCES Basic Medicine Medical Genetics hsv//eng
MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Gastroenterologi hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Gastroenterology and Hepatology hsv//eng
Case-Control Studies
Cholangitis
Sclerosing
genetics
immunology
Gene Frequency
Genetic Loci
immunology
Genetic Pleiotropy
Genome-Wide Association Study
Genotyping Techniques
Humans
Linkage Disequilibrium
Oligonucleotide Array Sequence Analysis
Polymorphism
Single Nucleotide
Risk Factors

Added entries (persons, corporate bodies, meetings, titles ...)

Hov, Johannes Roksund (author)
Folseraas, Trine (author)
Ellinghaus, Eva (author)
Rushbrook, Simon M (author)
Doncheva, Nadezhda T (author)
Andreassen, Ole A (author)
Weersma, Rinse K (author)
Weismüller, Tobias J (author)
Eksteen, Bertus (author)
Invernizzi, Pietro (author)
Hirschfield, Gideon M (author)
Gotthardt, Daniel Nils (author)
Pares, Albert (author)
Ellinghaus, David (author)
Shah, Tejas (author)
Juran, Brian D (author)
Milkiewicz, Piotr (author)
Rust, Christian (author)
Schramm, Christoph (author)
Müller, Tobias (author)
Srivastava, Brijesh (author)
Dalekos, Georgios (author)
Nöthen, Markus M (author)
Herms, Stefan (author)
Winkelmann, Juliane (author)
Mitrovic, Mitja (author)
Braun, Felix (author)
Ponsioen, Cyriel Y (author)
Croucher, Peter J P (author)
Sterneck, Martina (author)
Teufel, Andreas (author)
Mason, Andrew L (author)
Saarela, Janna (author)
Leppa, Virpi (author)
Dorfman, Ruslan (author)
Alvaro, Domenico (author)
Floreani, Annarosa (author)
Onengut-Gumuscu, Suna (author)
Rich, Stephen S (author)
Thompson, Wesley K (author)
Schork, Andrew J (author)
Næss, Sigrid (author)
Thomsen, Ingo (author)
Mayr, Gabriele (author)
König, Inke R (author)
Hveem, Kristian (author)
Cleynen, Isabelle (author)
Gutierrez-Achury, Javier (author)
Ricaño-Ponce, Isis (author)
van Heel, David (author)
Björnsson, Einar,1958 (author)
Sandford, Richard N (author)
Durie, Peter R (author)
Melum, Espen (author)
Vatn, Morten H (author)
Silverberg, Mark S (author)
Duerr, Richard H (author)
Padyukov, LeonidKarolinska Institutet (author)
Brand, Stephan (author)
Sans, Miquel (author)
Annese, Vito (author)
Achkar, Jean-Paul (author)
Boberg, Kirsten Muri (author)
Marschall, Hanns-Ulrich,1954Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition(Swepub:gu)xmarsh (author)
Chazouillères, Olivier (author)
Bowlus, Christopher L (author)
Wijmenga, Cisca (author)
Schrumpf, Erik (author)
Vermeire, Severine (author)
Albrecht, Mario (author)
Rioux, John D (author)
Alexander, Graeme (author)
Bergquist, AnnikaKarolinska Institutet (author)
Cho, Judy (author)
Schreiber, Stefan (author)
Manns, Michael P (author)
Färkkilä, Martti (author)
Dale, Anders M (author)
Chapman, Roger W (author)
Lazaridis, Konstantinos N (author)
Franke, Andre (author)
Anderson, Carl A (author)
Karlsen, Tom H (author)
Karolinska InstitutetInstitutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition (creator_code:org_t)

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In:Nature genetics: Springer Science and Business Media LLC45:6, s. 670-51546-17181061-4036

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By the author/editor: Liu, Jimmy Z; Hov, Johannes Ro ...; Folseraas, Trine; Ellinghaus, Eva; Rushbrook, Simon ...; Doncheva, Nadezh ...; show more...; 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; show less...

About the subject

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

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Gastroenterology ...

Articles in the publication: Nature genetics

By the university: University of Gothenburg; Karolinska Institutet

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