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Scandinavian Journal of Gastroenterology Volume 47, 2012 - Issue 7
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Liver and Biliary Disease

Fine mapping and replication of genetic risk loci in primary sclerosing cholangitis

Brijesh SrivastavaAcademic Department of Medical Genetics, University of Cambridge, Cambridge, UK
,
George F MellsAcademic Department of Medical Genetics, University of Cambridge, Cambridge, UK
,
Heather J CordellInstitute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
,
Agnes MuriithiAcademic Department of Medical Genetics, University of Cambridge, Cambridge, UK
,
Matthew BrownAcademic Department of Medical Genetics, University of Cambridge, Cambridge, UK
,
Eva EllinghausInstitute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany
,
Andre FrankeInstitute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany
,
UK-PSC ConsortiumAcademic Department of Medical Genetics, University of Cambridge, Cambridge, UK
,
Tom H KarlsenNorwegian PSC Research Center, Division of Cancer, Surgery and Transplantation, Oslo University Hospital, Rikshospitalet, Oslo, Norway;Research Institute for Internal Medicine, Division of Cancer, Surgery and Transplantation, Oslo University Hospital, Rikshospitalet, Oslo, Norway;Institute of Clinical Medicine, University of Oslo, Oslo, Norway
,
Richard N SandfordAcademic Department of Medical Genetics, University of Cambridge, Cambridge, UK
,
Graeme J AlexanderDepartment of Medicine, Division of Hepatology, University of Cambridge, Cambridge, UK
,
Roger W ChapmanDepartment of Hepatology, John Radcliffe University Hospitals NHS Trust, Oxford, UK
,
Simon M RushbrookDepartment of Hepatology, Norfolk and Norwich University Hospitals NHS Trust, Norwich, UK
&
Espen MelumNorwegian PSC Research Center, Division of Cancer, Surgery and Transplantation, Oslo University Hospital, Rikshospitalet, Oslo, Norway;Research Institute for Internal Medicine, Division of Cancer, Surgery and Transplantation, Oslo University Hospital, Rikshospitalet, Oslo, Norway;Institute of Clinical Medicine, University of Oslo, Oslo, NorwayCorrespondence[email protected]
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Pages 820-826 | Received 29 Jan 2012, Accepted 29 Mar 2012, Published online: 04 May 2012

References

  • Chapman RW, Arborgh BA, Rhodes JM, Summerfield JA, Dick R, Scheuer PJ, Primary sclerosing cholangitis: a review of its clinical features, cholangiography, and hepatic histology. Gut 1980;21:870–7.
  • Karlsen TH, Schrumpf E, Boberg KM. Primary sclerosing cholangitis. Best Pract Res Clin Gastroenterol 2010;24:655–66.
  • Boberg KM, Aadland E, Jahnsen J, Raknerud N, Stiris M, Bell H. Incidence and prevalence of primary biliary cirrhosis, primary sclerosing cholangitis, and autoimmune hepatitis in a Norwegian population. Scand J Gastroenterol 1998;33:99–103.
  • Loftus EV, Sandborn WJ, Lindor KD, La Russo NF. Interactions between chronic liver disease and inflammatory bowel disease. Inflamm Bowel Dis 1997;3:288–302.
  • Saarinen S, Olerup O, Broomé U. Increased frequency of autoimmune diseases in patients with primary sclerosing cholangitis. Am J Gastroenterol 2000;95:3195–9.
  • Karlsen TH, Kaser A. Deciphering the genetic predisposition to primary sclerosing cholangitis. Semin Liver Dis 2011;31:188–207.
  • Bergquist A, Montgomery SM, Bahmanyar S, Olsson R, Danielsson A, Lindgren S, Increased risk of primary sclerosing cholangitis and ulcerative colitis in first-degree relatives of patients with primary sclerosing cholangitis. Clin Gastroenterol Hepatol 2008;6:939–43.
  • Karlsen TH, Franke A, Melum E, Kaser A, Hov JR, Balschun T, Genome-wide association analysis in primary sclerosing cholangitis. Gastroenterology 2010;138:1102–11.
  • Melum E, Franke A, Schramm C, Weismüller TJ, Gotthardt DN, Offner FA, Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci. Nat Genet 2011;43:17–19.
  • Janse M, Lamberts LE, Franke L, Raychaudhuri S, Ellinghaus E, Muri Boberg K, Three ulcerative colitis susceptibility loci are associated with primary sclerosing cholangitis and indicate a role for IL2, REL, and CARD9. Hepatology 2011;53:1977–85.
  • Cotsapas C, Voight BF, Rossin E, Lage K, Neale BM, Wallace C, Pervasive sharing of genetic effects in Autoimmune disease. PLoS Genet 2011;7:e1002254.
  • Hsu W, Zhang W, Tsuneyama K, Moritoki Y, Ridgway WM, Ansari AA, Differential mechanisms in the pathogenesis of autoimmune cholangitis versus IBD in IL-2Rα-/- mice. Hepatology 2009;49:133–40.
  • The International HapMap Consortium. The International HapMap Project. Nature 2003;426:789–96.
  • Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005;21:263–5.
  • Li Y, Willer CJ, Ding J, Scheet P, Abecasis GR. MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol 2010;34:816–34.
  • Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007;81:559–75.
  • Johnson AD, Handsaker RE, Pulit SL, Nizzari MM, O'Donnell CJ, de Bakker PI. SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap. Bioinformatics 2008;24:2938–9.
  • Wang MH, Zhou YQ, Chen YQ. Macrophage-stimulating protein and RON receptor tyrosine kinase: potential regulators of macrophage inflammatory activities. Scand J Immunol 2002;56:545–53.
  • Lowe CE, Cooper JD, Brusko T, Walker NM, Smyth DJ, Bailey R, Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes. Nat Genet 2007;39:1074–82.
  • Sharfe N, Dadi HK, Shahar M, Roifman CM. Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor. Proc Natl Acad Sci USA 1997;94:3168–71.
  • Maiti AK, Kim-Howard X, Viswanathan P, Guillén L, Rojas-Villarraga A, Deshmukh H, Confirmation of an association between rs6822844 at the IL2-IL21 region and multiple autoimmune diseases: evidence of a general susceptibility locus. Arthritis Rheum 2010;62:323–9.
  • Létourneau S, Krieg C, Pantaleo G, Boyman O. IL-2- and CD25-dependent immunoregulatory mechanisms in the homeostasis of T-cell subsets. J Allergy Clin Immunol 2009;123:758–62.
  • Malek TR. The biology of interleukin-2. Annu Rev Immunol 2008;26:453–79.
  • Stolfi C, Rizzo A, Franzè E, Rotondi A, Fantini MC, Sarra M, Involvement of interleukin-21 in the regulation of colitis-associated colon cancer. J Exp Med 2011;208:2279–90.
  • Boberg KM, Lind GE. Primary sclerosing cholangitis and malignancy. Best Pract Res Clin Gastroenterol 2011;25:753–64.
  • Rai E, Wakeland EK. Genetic predisposition to autoimmunity–what have we learned? Semin Immunol 2011;23:67–83.
  • Karlsen TH, Melum E, Franke A. The utility of genome-wide association studies in hepatology. Hepatology 2010;51:1833–42.

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