Primary Sclerosing Cholangitis

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Xu, R. Primary Sclerosing Cholangitis. Encyclopedia. Available online: https://encyclopedia.pub/entry/5457 (accessed on 21 September 2026).

Xu R. Primary Sclerosing Cholangitis. Encyclopedia. Available at: https://encyclopedia.pub/entry/5457. Accessed September 21, 2026.

Xu, Rita. "Primary Sclerosing Cholangitis" Encyclopedia, https://encyclopedia.pub/entry/5457 (accessed September 21, 2026).

Xu, R. (2020, December 24). Primary Sclerosing Cholangitis. In Encyclopedia. https://encyclopedia.pub/entry/5457

Xu, Rita. "Primary Sclerosing Cholangitis." Encyclopedia. Web. 24 December, 2020.

Primary Sclerosing Cholangitis

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/primary-sclerosing-cholangitis

Primary sclerosing cholangitis is a condition that affects the bile ducts. These ducts carry bile (a fluid that helps to digest fats) from the liver, where bile is produced, to the gallbladder, where it is stored, and to the small intestine, where it aids in digestion. Primary sclerosing cholangitis occurs because of inflammation in the bile ducts (cholangitis) that leads to scarring (sclerosis) and narrowing of the ducts. As a result, bile cannot be released to the gallbladder and small intestine, and it builds up in the liver.

genetic conditions

References

Bergquist A, Lindberg G, Saarinen S, Broomé U. Increased prevalence of primarysclerosing cholangitis among first-degree relatives. J Hepatol. 2005Feb;42(2):252-6.
Friedrich K, Rupp C, Hov JR, Steinebrunner N, Weiss KH, Stiehl A, Brune M,Schaefer PK, Schemmer P, Sauer P, Schirmacher P, Runz H, Karlsen TH, Stremmel W, Gotthardt DN. A frequent PNPLA3 variant is a sex specific disease modifier in PSCpatients with bile duct stenosis. PLoS One. 2013;8(3):e58734. doi:10.1371/journal.pone.0058734.
Karlsen TH, Franke A, Melum E, Kaser A, Hov JR, Balschun T, Lie BA, Bergquist A, Schramm C, Weismüller TJ, Gotthardt D, Rust C, Philipp EE, Fritz T, HenckaertsL, Weersma RK, Stokkers P, Ponsioen CY, Wijmenga C, Sterneck M, Nothnagel M,Hampe J, Teufel A, Runz H, Rosenstiel P, Stiehl A, Vermeire S, Beuers U, MannsMP, Schrumpf E, Boberg KM, Schreiber S. Genome-wide association analysis inprimary sclerosing cholangitis. Gastroenterology. 2010 Mar;138(3):1102-11. doi:10.1053/j.gastro.2009.11.046.
Melum E, Franke A, Schramm C, Weismüller TJ, Gotthardt DN, Offner FA, JuranBD, Laerdahl JK, Labi V, Björnsson E, Weersma RK, Henckaerts L, Teufel A, Rust C,Ellinghaus E, Balschun T, Boberg KM, Ellinghaus D, Bergquist A, Sauer P, Ryu E,Hov JR, Wedemeyer J, Lindkvist B, Wittig M, Porte RJ, Holm K, Gieger C, Wichmann HE, Stokkers P, Ponsioen CY, Runz H, Stiehl A, Wijmenga C, Sterneck M, VermeireS, Beuers U, Villunger A, Schrumpf E, Lazaridis KN, Manns MP, Schreiber S,Karlsen TH. Genome-wide association analysis in primary sclerosing cholangitisidentifies two non-HLA susceptibility loci. Nat Genet. 2011 Jan;43(1):17-9. doi: 10.1038/ng.728.
Mendes F, Lindor KD. Primary sclerosing cholangitis: overview and update. Nat Rev Gastroenterol Hepatol. 2010 Nov;7(11):611-9. doi: 10.1038/nrgastro.2010.155.
Neri TM, Cavestro GM, Seghini P, Zanelli PF, Zanetti A, Savi M, Podda M, Zuin M, Colombo M, Floreani A, Rosina F, Bianchi Porro G, Strazzabosco M, Okolicsanyi L. Novel association of HLA-haplotypes with primary sclerosing cholangitis (PSC) in a southern European population. Dig Liver Dis. 2003 Aug;35(8):571-6.
Spurkland A, Saarinen S, Boberg KM, Mitchell S, Broome U, Caballeria L,Ciusani E, Chapman R, Ercilla G, Fausa O, Knutsen I, Pares A, Rosina F, Olerup O,Thorsby E, Schrumpf E. HLA class II haplotypes in primary sclerosing cholangitis patients from five European populations. Tissue Antigens. 1999 May;53(5):459-69.

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