Genome-wide association analysis in primary sclerosing cholangitis

Gastroenterology
Tom H KarlsenStefan Schreiber

Abstract

We aimed to characterize the genetic susceptibility to primary sclerosing cholangitis (PSC) by means of a genome-wide association analysis of single nucleotide polymorphism (SNP) markers. A total of 443,816 SNPs on the Affymetrix SNP Array 5.0 (Affymetrix, Santa Clara, CA) were genotyped in 285 Norwegian PSC patients and 298 healthy controls. Associations detected in this discovery panel were re-examined in independent case-control panels from Scandinavia (137 PSC cases and 368 controls), Belgium/The Netherlands (229 PSC cases and 735 controls), and Germany (400 cases and 1832 controls). The strongest associations were detected near HLA-B at chromosome 6p21 (rs3099844: odds ratio [OR], 4.8; 95% confidence interval [CI], 3.6-6.5; P = 2.6 x 10(-26); and rs2844559: OR, 4.7; 95% CI, 3.5-6.4; P = 4.2 x 10(-26) in the discovery panel). Outside the HLA complex, rs9524260 at chromosome 13q31 showed significant associations in 3 of 4 study panels. Lentiviral silencing of glypican 6, encoded at this locus, led to the up-regulation of proinflammatory markers in a cholangiocyte cell line. Of 15 established ulcerative colitis susceptibility loci, significant replication was obtained at chromosomes 2q35 and 3p21 (rs12612347: OR, 1.26; 95% CI...Continue Reading

References

Mar 1, 1982·Scandinavian Journal of Gastroenterology·E SchrumpfE Thorsby
Nov 7, 2002·Biochemical and Biophysical Research Communications·Takaharu MaruyamaKenichi Tanaka
Jul 10, 2003·Gastroenterology·Mariana CapurroJorge Filmus
Dec 5, 2003·Nucleic Acids Research·Xiaowei Wang, Brian Seed
Oct 19, 2004·Proceedings of the National Academy of Sciences of the United States of America·Claire VandiedonckHenri-Jean Garchon
Dec 2, 2004·Nature Reviews. Genetics·Roger HortonStephan Beck
Feb 28, 2007·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Verena KeitelRalf Kubitz
Jun 8, 2007·Nature·UNKNOWN Wellcome Trust Case Control Consortium
Oct 2, 2007·World Journal of Gastroenterology : WJG·Tom-H KarlsenKirsten-Muri Boberg
May 13, 2008·Biochemical and Biophysical Research Communications·Verena KeitelDieter Häussinger
May 29, 2008·Genome Biology·Jorge FilmusJonathan Rast
Aug 5, 2008·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Annika BergquistAnders Ekbom
Nov 18, 2008·Human Molecular Genetics·Sergio E BaranziniJorge R Oksenberg
Jul 8, 2009·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Verena KeitelDieter Häussinger

❮ Previous
Next ❯

Citations

Apr 23, 2013·Nature Genetics·Jimmy Z LiuUNKNOWN International IBD Genetics Consortium
Feb 24, 2011·Seminars in Liver Disease·Luca Fabris, Mario Strazzabosco
Jun 22, 2011·Digestive Diseases·Christopher A WadsworthShahid A Khan
Sep 9, 2010·Genome Biology·Pin TongBrendan Loftus
Jan 10, 2012·World Journal of Gastroenterology : WJG·Bjarte FosbyEspen Melum
Jan 15, 2014·Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·Henri DubocAlan F Hofmann
Oct 3, 2013·Journal of Hepatology·Marco Carbone, James M Neuberger
Sep 2, 2014·Clinics and Research in Hepatology and Gastroenterology·Yvon Calmus, Raoul Poupon
Aug 2, 2014·Seminars in Immunopathology·Evaggelia LiaskouM Eric Gershwin
Dec 21, 2010·Clinical Reviews in Allergy & Immunology·Christopher L Bowlus
Jan 19, 2011·Clinical Reviews in Allergy & Immunology·Marco FolciCarlo Selmi
Jun 1, 2012·Clinical Reviews in Allergy & Immunology·Juan-Manuel AnayaMauricio Arcos-Burgos
Jul 25, 2013·Journal of Autoimmunity·Kelly HudspethDomenico Mavilio
Jul 31, 2013·Journal of Autoimmunity·Palak J Trivedi, David H Adams
Aug 13, 2013·Journal of Autoimmunity·George F MellsTom H Karlsen
Sep 10, 2013·Journal of Autoimmunity·Pietro Invernizzi
May 5, 2012·Scandinavian Journal of Gastroenterology·Brijesh SrivastavaEspen Melum
Aug 21, 2013·Scandinavian Journal of Gastroenterology·Henrike LenzenTim O Lankisch
Aug 4, 2010·Expert Review of Gastroenterology & Hepatology·Emmanouil Sinakos, Keith Lindor
Nov 3, 2015·Expert Review of Gastroenterology & Hepatology·Ahmad H AliKeith D Lindor
Jun 1, 2012·Expert Review of Gastroenterology & Hepatology·Mohamad H Imam, Keith D Lindor
Oct 24, 2014·BMC Infectious Diseases·Christian RuppDaniel Nils Gotthardt
Jan 23, 2016·Korean Journal of Radiology : Official Journal of the Korean Radiological Society·Nieun SeoMoon-Gyu Lee
Jul 15, 2015·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Alexander G MiethkeKenneth D R Setchell
Mar 26, 2013·Gastroenterology·Alexander G Miethke, Stacey S Huppert
Jan 23, 2013·Gastroenterology·Shuang CuiRandolph P Matthews
Mar 5, 2013·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Siddharth Singh, Jayant A Talwalkar
May 1, 2012·Clinics in Liver Disease·Asma Siddique, Kris V Kowdley
May 5, 2012·Clinics and Research in Hepatology and Gastroenterology·Sigrid NæssTom H Karlsen
Apr 24, 2012·Clinics and Research in Hepatology and Gastroenterology·Verena Keitel, Dieter Häussinger
Feb 7, 2012·Clinics and Research in Hepatology and Gastroenterology·P J Trivedi, R W Chapman
Dec 31, 2011·Clinics and Research in Hepatology and Gastroenterology·Serge Erlinger
Sep 9, 2015·Journal of Autoimmunity·G J Webb, G M Hirschfield
Sep 7, 2011·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Jing Hieng NguCatherine Ann Malcolm Stedman
Mar 23, 2011·Gastroenterología y hepatología·Sabela Lens GarcíaXavier Forns Bernhardt
Jun 28, 2011·Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·Laetitia E LambertsRinse K Weersma
May 3, 2011·Gastroenterology·Judy H Cho, Steven R Brant
Oct 20, 2010·Best Practice & Research. Clinical Gastroenterology·Tom H KarlsenKirsten Muri Boberg
Aug 4, 2011·Clinics and Research in Hepatology and Gastroenterology·Serge Erlinger
Nov 9, 2010·Clinics in Liver Disease·Jay H Lefkowitch

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Current Opinion in Gastroenterology
Tom H KarlsenKirsten Muri Boberg
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association
Annika BergquistAnders Ekbom
Best Practice & Research. Clinical Gastroenterology
Tobias J Weismüller, Tim O Lankisch
© 2022 Meta ULC. All rights reserved