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1.	Melum, E, et al. (author) Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci 2011 In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 43:1, s. 17-19 Journal article (peer-reviewed)
2.	Alberts, R, et al. (author) GENOTYPE-PHENOTYPE ANALYSIS ACROSS 130,422 GENETIC VARIANTS IDENTIFIES RSPO3 AS THE FIRST GENOME-WIDE SIGNIFICANT MODIFIER GENE IN PRIMARY SCLEROSING CHOLANGITIS 2016 In: JOURNAL OF HEPATOLOGY. - 0168-8278. ; 10, s. S5-S7 Conference paper (other academic/artistic)
3.	Ellinghaus, D, et al. (author) Genome-wide association analysis in primary sclerosing cholangitis and ulcerative colitis identifies risk loci at GPR35 and TCF4 2013 In: Hepatology (Baltimore, Md.). - : Ovid Technologies (Wolters Kluwer Health). - 1527-3350 .- 0270-9139. ; 58:3, s. 1074-1083 Journal article (peer-reviewed)
4.	Folseraas, T, et al. (author) Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci 2012 In: Journal of hepatology. - : Elsevier BV. - 1600-0641 .- 0168-8278. ; 57:2, s. 366-375 Journal article (peer-reviewed)
5.	Alberts, R, et al. (author) Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis 2018 In: Gut. - : BMJ. - 1468-3288 .- 0017-5749. ; 67:8, s. 1517-1524 Journal article (peer-reviewed)abstract Primary sclerosing cholangitis (PSC) is a genetically complex, inflammatory bile duct disease of largely unknown aetiology often leading to liver transplantation or death. Little is known about the genetic contribution to the severity and progression of PSC. The aim of this study is to identify genetic variants associated with PSC disease progression and development of complications.DesignWe collected standardised PSC subphenotypes in a large cohort of 3402 patients with PSC. After quality control, we combined 130 422 single nucleotide polymorphisms of all patients—obtained using the Illumina immunochip—with their disease subphenotypes. Using logistic regression and Cox proportional hazards models, we identified genetic variants associated with binary and time-to-event PSC subphenotypes.ResultsWe identified genetic variant rs853974 to be associated with liver transplant-free survival (p=6.07×10–9). Kaplan-Meier survival analysis showed a 50.9% (95% CI 41.5% to 59.5%) transplant-free survival for homozygous AA allele carriers of rs853974 compared with 72.8% (95% CI 69.6% to 75.7%) for GG carriers at 10 years after PSC diagnosis. For the candidate gene in the region, RSPO3, we demonstrated expression in key liver-resident effector cells, such as human and murine cholangiocytes and human hepatic stellate cells.ConclusionWe present a large international PSC cohort, and report genetic loci associated with PSC disease progression. For liver transplant-free survival, we identified a genome-wide significant signal and demonstrated expression of the candidate gene RSPO3 in key liver-resident effector cells. This warrants further assessments of the role of this potential key PSC modifier gene.
6.	Hov, JR, et al. (author) Mutational characterization of the bile acid receptor TGR5 in primary sclerosing cholangitis 2010 In: PloS one. - : Public Library of Science (PLoS). - 1932-6203. ; 5:8, s. e12403- Journal article (peer-reviewed)
7.	Karlsen, TH, et al. (author) Genome-wide association analysis in primary sclerosing cholangitis 2010 In: Gastroenterology. - : Elsevier BV. - 1528-0012 .- 0016-5085. ; 138:3, s. 1102-1111 Journal article (peer-reviewed)

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Result 1-7 of 7

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Type of publication: journal article (6); conference paper (1)

Type of content: peer-reviewed (6); other academic/artistic (1)

Author/Editor: Karlsen, TH (7); Boberg, KM (7); Franke, A (7); Teufel, A (7)Undo refine; Bergquist, A (7); Hov, JR (7); show more...; Melum, E (7); Rust, C (7); Schramm, C (7); Schreiber, S (7); Schrumpf, E (7); Beuers, U. (6); Wijmenga, C (6); Weismuller, TJ (5); Ellinghaus, D (5); Holm, K (5); Ellinghaus, E. (4); Folseraas, T (4); Bjornsson, E (4); Gotthardt, DN (4); Juran, BD (4); Rupp, C (3); Alexander, G. (2); Rosenstiel, P (2); Marschall, Hanns-Ulr ... (2); Marschall, HU (2); Lie, BA (2); Pinzani, M (2); Farkkila, M (2); Alberts, R (2); Sampaziotis, F (2); Rombouts, K (2); Mason, AL (2); Alvaro, D (2); Bowlus, CL (2); Chazouilleres, O (2); Cheung, A (2); Dalekos, G (2); Eksteen, B (2); Floreani, A (2); Hirschfield, GM (2); van Hoek, B (2); Hohenester, S (2); Imhann, F (2); Invernizzi, P (2); Liu, JZ (2); Marzioni, M (2); Milkiewicz, P (2); Pares, A (2); Sandford, RN (2); show less...

University: Karolinska Institutet (7); University of Gothenburg (2)

Language: English (7)

Research subject (UKÄ/SCB): Medical and Health Sciences (2)

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