Tom Hemming Karlsen

• Karlsen TH, Rutter H, Carrieri P, et al. (2024). The EASL-Lancet Commission on liver health in Europe: prevention, case-finding, and early diagnosis to reduce liver-related mortality. Lancet 403:1522-1524. 
• The COVID-19 Host Genetics Initiative. A second update on mapping the human genetic architecture of COVID-19. Nature 621, E7–E26 (2023).
• Serra-Burriel, Miquel, Alvarez, Marifé et al. (2023). Development, validation, and prognostic evaluation of a risk score for long-term liver-related outcomes in the general population: a multicohort study. Lancet 402:10406, 988-996.
• Karlsen TH (2022) Understanding COVID-19 through genome-wide association studies. Nature Genetics 54:368-369. 
• Karlsen TH, Sheron N, Zelber-Sagi S, et al. (2022) The EASL-Lancet Liver Commission: protecting the next generation of Europeans against liver disease complications and premature mortality. Lancet 399:61-116.
• COVID-19 Host Genetics Initiative (2021) Mapping the human genetic architecture of COVID-19. Nature 600:472-477. 
• Thaventhiran JED, Lango Allen H, Burren OS et al. (2020) Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature 583:90-95. 
• Ellinghaus D, Degenhardt F, Bujanda L et al. (2020) Genomewide Association Study of Severe Covid-19 with Respiratory Failure. New England Journal of Medicine 383:1522-1534.
• Melum E, Jiang X, Baker KD, et al. (2019) Control of CD1d-restricted antigen presentation and inflammation by sphingomyelin. Nature Immunology, 20, 1644-1655.
• Schneditz G, Elias JE, Pagano E, et al. (2019) GPR35 promotes glycolysis, proliferation, and oncogenic signaling by engaging with the sodium potassium pump. Science Signaling, 562, eaau9048.
• Manns MP, Burra P, Sargent J, Horton R, Karlsen TH (2018) The Lancet-EASL Commission on liver diseases in Europe: overcoming unmet needs, stigma, and inequities. Lancet, 10148, 621-622.
• Sampaziotis F, Justin AW, Tysoe OC et al. (2017) Reconstruction of the mouse extrahepatic biliary tree using primary human extrahepatic cholangiocyte organoids. Nature Medicine, 23, 954-963. 
• Ji SG, Juran BD, Mucha S, et al. (2017) Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. Nature Genetics, 49, 269-273.
• Wang J, Thingholm LB, Skiecevièienë J, et al. (2016) Genome-wide association analysis identifies variation in vitamin D receptor and other host factors influencing the gut microbiota. Nature Genetics, 48,1396-1406.
• Ellinghaus D, Jostins L, Spain SL, et al. (2016) Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. Nature Genetics, 48, 510-8.
• Sampaziotis F, Cardoso de Brito M, Madrigal P, et al. (2015) Cholangiocytes derived from human induced pluripotent stem cells for disease modeling and drug validation. Nature Biotechnology, 33,845-52.
• Goyette P, Boucher G, Mallon D, et al. (2015). High density mapping of the MHC reveals a common role for HLADRB1* 01:03 in IBD and heterozygous advantage in ulcerative colitis; Nature Genetics, 47 (2), 172-179.
• Hirschfield GM, Karlsen TH, Lindor K, Adams D, (2013). Primary sclerosing cholangitis; Lancet, 382 (9904), 1587-99.
• Liu JZ, Hov JR, Folseraas T, et al., (2013). Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis; Nature Genetics, 45 (6), 670-5.
• Jostins L, Ripke S, Weersma RK, et al., (2012). Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease; Nature, 491 (7422), 119-24.
• Anderson CA, Boucher G, Lees CW, et al., (2011). Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47; Nature Genetics, 43 (3), 246-52.
• Melum E, Franke A, Schramm C, et al., (2011). Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci; Nature Genetics, 43 (1), 17-9.
• Ellinghaus E, Ellinghaus D, Stuart PE, et al., (2010). Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2; Nature Genetics, 42 (11), 991-5.
• Franke A, Balschun T, Sina C, et al., (2010). Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL); Nature Genetics, 42 (4), 292-4.
• Franke A, Balschun T, Karlsen TH, et al. (2008). Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility; Nature Genetics, 40 (11), 1319-23.
• Franke A, Balschun T, Karlsen TH, et al. (2008). Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis; Nature Genetics, 40 (6), 713-5.

• Wacker, Eike Matthias; Uellendahl-Werth, Florian; Bej, Saptarshi; Wolkenhauer, Olaf; Vesterhus, Mette Nåmdal & Lieb, Wolfgang [Show all 10 contributors for this article] (2023). Whole blood RNA sequencing identifies transcriptional differences between primary sclerosing cholangitis and ulcerative colitis. JHEP Reports. 6(2). doi: 10.1016/j.jhepr.2023.100988. Full text in Research Archive
• Akhlaghpour, Marzieh; Haritunians, Talin; More, Shyam K; Thomas, Lisa S; Stamps, Dalton T & Dube, Shishir [Show all 45 contributors for this article] (2023). Genetic coding variant in complement factor B (CFB) is associated with increased risk for perianal Crohn's disease and leads to impaired CFB cleavage and phagocytosis. Gut. ISSN 0017-5749. 72(11). doi: 10.1136/gutjnl-2023-329689.
• Baumdick, Marin E; Niehrs, Annika; Degenhardt, Frauke; Schwerk, Maria; Hinrichs, Ole & Jordan-Paiz, Ana [Show all 33 contributors for this article] (2023). HLA-DP on Epithelial Cells Enables Tissue Damage by NKp44+ Natural Killer Cells in Ulcerative Colitis. Gastroenterology. ISSN 0016-5085. 165(4), p. 946–962. doi: 10.1053/j.gastro.2023.06.034. Full text in Research Archive
• Grant, Caroline W; Juran, Brian D; Ali, Ahmad H; Schlicht, Erik M; Bianchi, Jackie K & Hu, Xin [Show all 19 contributors for this article] (2023). Environmental chemicals and endogenous metabolites in bile of USA and Norway patients with primary sclerosing cholangitis. Exposome. ISSN 2635-2265. 3(1). doi: 10.1093/exposome/osac011. Full text in Research Archive
• Tedbury, Philip R.; Manfredi, Candela; Degenhardt, Frauke; Conway, Joseph; Horwath, Michael C. & McCracken, Courtney [Show all 37 contributors for this article] (2023). Mechanisms by which the cystic fibrosis transmembrane conductance regulator may influence SARS-CoV-2 infection and COVID-19 disease severity. The FASEB Journal. ISSN 0892-6638. 37(11). doi: 10.1096/fj.202300077R.
• Serra-Burriel, Miquel; Juanola, Adrià; Serra-Burriel, Feliu; Thiele, Maja; Graupera, Isabel & Pose, Elisa [Show all 59 contributors for this article] (2023). Development, validation, and prognostic evaluation of a risk score for long-term liver-related outcomes in the general population: a multicohort study. The Lancet. ISSN 0140-6736. 402(10406), p. 988–996. doi: 10.1016/S0140-6736(23)01174-1.
• Mayer, Carlotta; Nehring, Sophie; Kücken, Michael; Repnik, Urska; Seifert, Sarah & Sljukic, Aleksandra [Show all 18 contributors for this article] (2023). Apical bulkheads accumulate as adaptive response to impaired bile flow in liver disease. EMBO Reports. ISSN 1469-221X. 24(9). doi: 10.15252/embr.202357181. Full text in Research Archive
• Braadland, Peder Rustøen; Bergquist, Annika; Kummen, Martin; Bossen, Lars; Engesæter, Lise Katrine & Reims, Henrik Mikael [Show all 21 contributors for this article] (2023). Clinical and biochemical impact of vitamin B6 deficiency in primary sclerosing cholangitis before and after liver transplantation. Journal of Hepatology. ISSN 0168-8278. 79(4), p. 955–966. doi: 10.1016/j.jhep.2023.05.038. Full text in Research Archive
• Lapitz, Ainhoa; Azkargorta, Mikel; Milkiewicz, Piotr; Olaizola, Paula; Zhuravleva, Ekaterina & Grimsrud, Marit Mæhle [Show all 35 contributors for this article] (2023). Liquid biopsy-based protein biomarkers for risk prediction, early diagnosis, and prognostication of cholangiocarcinoma. Journal of Hepatology. ISSN 0168-8278. 79(1), p. 93–108. doi: 10.1016/j.jhep.2023.02.027. Full text in Research Archive
• Han, Younghun; Byun, Jinyoung; Zhu, Catherine; Sun, Ryan; Roh, Julia Y. & Cordell, Heather J. [Show all 26 contributors for this article] (2023). Multitrait genome-wide analyses identify new susceptibility loci and candidate drugs to primary sclerosing cholangitis. Nature Communications. ISSN 2041-1723. 14(1), p. 1–13. doi: 10.1038/s41467-023-36678-8. Full text in Research Archive
• van der Meer, Dennis; Gurholt, Tiril Pedersen; Sønderby, Ida Elken; Shadrin, Alexey; Hindley, Guy Frederick Lanyon & Rahman, Zillur [Show all 18 contributors for this article] (2022). The link between liver fat and cardiometabolic diseases is highlighted by genome-wide association study of MRI-derived measures of body composition. Communications Biology. ISSN 2399-3642. 5(1). doi: 10.1038/s42003-022-04237-4. Full text in Research Archive
• Kaarbø, Mari; Yang, Mingyi; Hov, Johannes Espolin Roksund; Holm, Kristian; Sousa, Mirta & Macpherson, Magnhild Eide [Show all 15 contributors for this article] (2022). Duodenal inflammation in common variable immunodeficiency has altered transcriptional response to viruses. Journal of Allergy and Clinical Immunology. ISSN 0091-6749. doi: 10.1016/j.jaci.2022.09.029. Full text in Research Archive Show summary

  Background A substantial proportion of common variable immunodeficiency (CVID) patients has duodenal inflammation of largely unknown etiology. However, because of its histologic similarities with celiac disease, gluten sensitivity has been proposed as a potential mechanism. Objective We aimed to elucidate the role of the duodenal microenvironment in the pathogenesis of duodenal inflammation in CVID by investigating the transcriptional, proteomic, and microbial signatures of duodenal biopsy samples in CVID. Methods DNA, total RNA, and protein were isolated from snap-frozen pieces of duodenal biopsy samples from CVID (with and without duodenal inflammation), healthy controls, and patients with celiac disease (untreated). RNA sequencing, mass spectrometry–based proteomics, and 16S ribosomal DNA sequencing (bacteria) were then performed. Results CVID separated from controls in regulation of transcriptional response to lipopolysaccharide and cellular immune responses. These differences were independent of mucosal inflammation. Instead, CVID patients with duodenal inflammation displayed alterations in transcription of genes involved in response to viral infections. Four proteins were differently regulated between CVID patients and healthy controls—DBNL, TRMT11, GCHFR, and IGHA2—independent of duodenal inflammation. Despite similar histology, there were major differences in CVID with duodenal inflammation and celiac disease both at the RNA and protein level. No significant difference was observed in the bacterial gut microbial signature between CVID, celiac, and healthy controls. Conclusion Our findings suggest the existence of altered functions of the duodenal epithelium, particularly in response to lipopolysaccharide and viruses. The latter finding was related to duodenal inflammation, suggesting that viruses, not gluten sensitivity, could be related to duodenal inflammation in CVID. Key words CVID RNA sequencing proteomics microbiome gut microbiota microbiota gastrointestinal tract duodenum celiac disease Primary immunodeficiency IgA

• Singh, Yashbir; Jons, William A.; Eaton, John E.; Vesterhus, Mette Nåmdal; Karlsen, Tom Hemming & Bjørk, Ida Torunn [Show all 21 contributors for this article] (2022). Algebraic topology-based machine learning using MRI predicts outcomes in primary sclerosing cholangitis. European Radiology Experimental. 6. doi: 10.1186/s41747-022-00312-x. Full text in Research Archive
• Cruz, Raquel; Diz-de Almeida, Silvia; López de Heredia, Miguel; Quintela, Inés; Ceballos, Francisco C. & Pita, Guillermo [Show all 165 contributors for this article] (2022). Novel genes and sex differences in COVID-19 severity. Human Molecular Genetics. ISSN 0964-6906. 31(22), p. 3789–3806. doi: 10.1093/hmg/ddac132. Full text in Research Archive
• Hov, Johannes Espolin Roksund & Karlsen, Tom Hemming (2022). The microbiota and the gut–liver axis in primary sclerosing cholangitis. Nature reviews: Gastroenterology & hepatology. ISSN 1759-5045. doi: 10.1038/s41575-022-00690-y.
• Hole, Mikal Jacob; Jørgensen, Kristin Kaasen; Holm, Kristian; Braadland, Peder Rustøen; Meyer-Myklestad, Malin Holm & Medhus, Asle Wilhelm [Show all 13 contributors for this article] (2022). A shared mucosal gut microbiota signature in primary sclerosing cholangitis before and after liver transplantation. Hepatology. ISSN 0270-9139. doi: 10.1002/hep.32773. Full text in Research Archive
• Braadland, Peder Rustøen; Schneider, Kai Markus; Bergquist, Annika; Molinaro, Antonio; Lövgren-Sandblom, Anita & Henricsson, Marcus [Show all 11 contributors for this article] (2022). Suppression of bile acid synthesis as a tipping point in the disease course of primary sclerosing cholangitis. JHEP Reports. 4(11), p. 1–10. doi: 10.1016/j.jhepr.2022.100561. Full text in Research Archive
• Chung, Brian K.; Øgaard, Jonas; Reims, Henrik Mikael; Karlsen, Tom Hemming & Melum, Espen (2022). Spatial transcriptomics identifies enriched gene expression and cell types in human liver fibrosis. Hepatology communications.. ISSN 2471-254X. 6(9), p. 2538–2550. doi: 10.1002/hep4.2001. Show summary

  Liver fibrosis and cirrhosis have limited therapeutic options and represent a serious unmet patient need. Recent use of single-cell RNA sequencing (scRNAseq) has identified enriched cell types infiltrating cirrhotic livers but without defining the microanatomical location of these lineages thoroughly. To assess whether fibrotic liver regions specifically harbor enriched cell types, we explored whether whole-tissue spatial transcriptomics combined with scRNAseq and gene deconvolution analysis could be used to localize cell types in cirrhotic explants of patients with end-stage liver disease (total n = 8; primary sclerosing cholangitis, n = 4; primary biliary cholangitis, n = 2, alcohol-related liver disease, n = 2). Spatial transcriptomics clearly identified tissue areas of distinct gene expression that strongly correlated with the total area (Spearman r = 0.97, p = 0.0004) and precise location (parenchyma, 87.9% mean congruency; range, 73.1%–97.1%; fibrosis, 68.5% mean congruency; range, 41.0%–91.7%) of liver regions classified as parenchymal or fibrotic by conventional histology. Deconvolution and enumeration of parenchymal and fibrotic gene content as measured by spatial transcriptomics into distinct cell states revealed significantly higher frequencies of ACTA2+ FABP4+ and COL3A1+ mesenchymal cells, IL17RA+ S100A8+ and FCER1G+ tissue monocytes, VCAM1+ SDC3+ Kupffer cells, CCL4+ CCL5+ KLRB1+ and GZMA+ IL17RA+ T cells and HLA-DR+, CD37+ CXCR4+ and IGHM+ IGHG+ B cells in fibrotic liver regions compared with parenchymal areas of cirrhotic explants. Conclusion: Our findings indicate that spatial transcriptomes of parenchymal and fibrotic liver regions express unique gene content within cirrhotic liver and demonstrate proof of concept that spatial transcriptomes combined with additional RNA sequencing methodologies can refine the localization of gene content and cell lineages in the search for antifibrotic targets.

• Degenhardt, Frauke; Ellinghaus, David; Juzenas, Simonas; Lerga-Jaso, Jon; Wendorff, Mareike & Maya-Miles, Douglas [Show all 51 contributors for this article] (2022). Detailed stratified GWAS analysis for severe COVID-19 in four European populations. Human Molecular Genetics. ISSN 0964-6906. 31(23), p. 3945–3966. doi: 10.1093/hmg/ddac158. Full text in Research Archive Show summary

  Given the highly variable clinical phenotype of Coronavirus disease 2019 (COVID-19), a deeper analysis of the host genetic contribution to severe COVID-19 is important to improve our understanding of underlying disease mechanisms. Here, we describe an extended genome-wide association meta-analysis of a well-characterized cohort of 3255 COVID-19 patients with respiratory failure and 12 488 population controls from Italy, Spain, Norway and Germany/Austria, including stratified analyses based on age, sex and disease severity, as well as targeted analyses of chromosome Y haplotypes, the human leukocyte antigen region and the SARS-CoV-2 peptidome. By inversion imputation, we traced a reported association at 17q21.31 to a ∼0.9-Mb inversion polymorphism that creates two highly differentiated haplotypes and characterized the potential effects of the inversion in detail. Our data, together with the 5th release of summary statistics from the COVID-19 Host Genetics Initiative including non-Caucasian individuals, also identified a new locus at 19q13.33, including NAPSA, a gene which is expressed primarily in alveolar cells responsible for gas exchange in the lung.

• Lei, Lin; Bruneau, Alix; El Mourabit, Haquima; Guégan, Justine; Folseraas, Trine & Lemoinne, Sara [Show all 18 contributors for this article] (2022). Portal fibroblasts with mesenchymal stem cell features form a reservoir of proliferative myofibroblasts in liver fibrosis. Hepatology. ISSN 0270-9139. doi: 10.1002/hep.32456.
• Valestrand, Laura Cecilie; Zheng, Fei; Hansen, Simen Hyll; Øgaard, Jonas; Hov, Johannes Espolin Roksund & Björkström, Niklas K. [Show all 9 contributors for this article] (2022). Bile from Patients with Primary Sclerosing Cholangitis Contains Mucosal-Associated Invariant T-Cell Antigens. American Journal of Pathology. ISSN 0002-9440. 192(4), p. 629–641. doi: 10.1016/j.ajpath.2021.12.008. Full text in Research Archive Show summary

  Primary sclerosing cholangitis (PSC) is associated with altered microbiota of the gut and bile. Mucosal-associated invariant T (MAIT) cells, enriched in human liver, uniquely recognize microbial-derived metabolites. This study aimed to determine whether bile from patients with PSC contains antigens activating MAIT cells. Bile was collected at the time of liver transplantation from patients with PSC (n = 28). The bile samples were either directly incubated with peripheral blood mononuclear cells from healthy donors or with antigen-presenting cells followed by co-culture with peripheral blood mononuclear cells. MAIT cell activation was assessed by flow cytometry. An anti-MR1 antibody was used to determine whether the activation was major histocompatibility complex class I–related protein (MR1) restricted. Biliary microbiota profiles were generated using 16S rRNA amplicon sequencing, and the abundance of the bacterial gene ribD was predicted. Eight of 28 bile samples could activate MAIT cells. This activation was partly MR1-dependent in five of eight bile samples. Microbial DNA was detected in 15 of 28 bile samples, including the five bile samples leading to MR1-dependent activation. A higher abundance of the ribD gene expression in the group of bile samples that could activate MAIT cells was predicted on the basis of the 16S sequencing. In co-culture experiments, cholangiocytes could take up and present biliary antigens to MAIT cells. These findings suggest a pathophysiological pathway in PSC connecting the immune system and the microbiome.

• Hammer, Quirin; Dunst, Josefine; Christ, Wanda; Picarazzi, Francesca; Wendorff, Mareike & Momayyezi, Pouria [Show all 51 contributors for this article] (2022). SARS-CoV-2 Nsp13 encodes for an HLA-E-stabilizing peptide that abrogates inhibition of NKG2A-expressing NK cells. Cell reports. ISSN 2211-1247. 38(10). doi: 10.1016/j.celrep.2022.110503. Full text in Research Archive Show summary

  Natural killer (NK) cells are innate immune cells that contribute to host defense against virus infections. NK cells respond to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in vitro and are activated in patients with acute coronavirus disease 2019 (COVID-19). However, by which mechanisms NK cells detect SARS-CoV-2-infected cells remains largely unknown. Here, we show that the Non-structural protein 13 of SARS-CoV-2 encodes for a peptide that is presented by human leukocyte antigen E (HLA-E). In contrast with self-peptides, the viral peptide prevents binding of HLA-E to the inhibitory receptor NKG2A, thereby rendering target cells susceptible to NK cell attack. In line with these observations, NKG2A-expressing NK cells are particularly activated in patients with COVID-19 and proficiently limit SARS-CoV-2 replication in infected lung epithelial cells in vitro. Thus, these data suggest that a viral peptide presented by HLA-E abrogates inhibition of NKG2A+ NK cells, resulting in missing self-recognition.

• Uellendahl-Werth, Florian; Maj, Carlo; Borisov, Oleg; Juzenas, Simonas; Wacker, Eike Matthias & Jørgensen, Isabella Friis [Show all 21 contributors for this article] (2022). Cross-tissue transcriptome-wide association studies identify susceptibility genes shared between schizophrenia and inflammatory bowel disease. Communications Biology. ISSN 2399-3642. 5(1). doi: 10.1038/s42003-022-03031-6. Full text in Research Archive
• Degenhardt, Frauke; Mayr, Gabriele; Wendorff, Mareike; Boucher, Gabrielle; Ellinghaus, Eva & Ellinghaus, David [Show all 51 contributors for this article] (2021). Transethnic analysis of the human leukocyte antigen region for ulcerative colitis reveals not only shared but also ethnicity-specific disease associations. Human Molecular Genetics. ISSN 0964-6906. 30(5), p. 356–369. doi: 10.1093/hmg/ddab017. Full text in Research Archive
• Reich, Maria; Spomer, Lina; Klindt, Caroline; Fuchs, Katharina; Stindt, Jan & Deutschmann, Kathleen [Show all 33 contributors for this article] (2021). Downregulation of TGR5 (GPBAR1) in biliary epithelial cells contributes to the pathogenesis of sclerosing cholangitis. Journal of Hepatology. ISSN 0168-8278. 75(3), p. 634–646. doi: 10.1016/j.jhep.2021.03.029. Full text in Research Archive
• Karlsen, Tom Hemming; Sheron, Nick; Zelber-Sagi, Shira; Carrieri, Patrizia; Dusheiko, Geoffery & Bugianesi, Elisabetta [Show all 57 contributors for this article] (2021). The EASL-Lancet Liver Commission: protecting the next generation of Europeans against liver disease complications and premature mortality. The Lancet. ISSN 0140-6736. doi: 10.1016/S0140-6736(21)01701-3. Full text in Research Archive
• Nakanishi, Tomoko; Pigazzini, Sara; Degenhardt, Frauke; Cordioli, Mattia; Butler-Laporte, Guillaume & Maya-Miles, Douglas [Show all 47 contributors for this article] (2021). Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality. Journal of Clinical Investigation. ISSN 0021-9738. 131(23). doi: 10.1172/JCI152386.
• Pagano, Ester; Elias, Joshua E.; Schneditz, Georg Thomas; Saveljeva, Svetlana; Holland, Lorraine M. & Borrelli, Francesca [Show all 9 contributors for this article] (2021). Activation of the GPR35 pathway drives angiogenesis in the tumour microenvironment. Gut. ISSN 0017-5749. doi: 10.1136/gutjnl-2020-323363. Full text in Research Archive
• Fossdal, Guri; Mjelle, Anders Batman; Wiencke, Kristine; Bjørk, Ida Torunn; Gilja, Odd Helge & Folseraas, Trine [Show all 10 contributors for this article] (2021). Fluctuating biomarkers in primary sclerosing cholangitis: A longitudinal comparison of alkaline phosphatase, liver stiffness, and ELF. JHEP Reports. 3(5), p. 1–10. doi: 10.1016/j.jhepr.2021.100328. Full text in Research Archive
• Zheng, Thenghao; Ellinghaus, David; Juzenas, Simonas; Cossais, François; Burmeister, Greta & Mayr, Gabriele [Show all 86 contributors for this article] (2021). Genome-wide analysis of 944 133 individuals provides insights into the etiology of haemorrhoidal disease. Gut. ISSN 0017-5749. 70(8), p. 1538–1549. doi: 10.1136/gutjnl-2020-323868. Full text in Research Archive Show summary

  Objective: Haemorrhoidal disease (HEM) affects a large and silently suffering fraction of the population but its aetiology, including suspected genetic predisposition, is poorly understood. We report the first genome-wide association study (GWAS) meta-analysis to identify genetic risk factors for HEM to date. Design: We conducted a GWAS meta-analysis of 218 920 patients with HEM and 725 213 controls of European ancestry. Using GWAS summary statistics, we performed multiple genetic correlation analyses between HEM and other traits as well as calculated HEM polygenic risk scores (PRS) and evaluated their translational potential in independent datasets. Using functional annotation of GWAS results, we identified HEM candidate genes, which differential expression and coexpression in HEM tissues were evaluated employing RNA-seq analyses. The localisation of expressed proteins at selected loci was investigated by immunohistochemistry. Results: We demonstrate modest heritability and genetic correlation of HEM with several other diseases from the GI, neuroaffective and cardiovascular domains. HEM PRS validated in 180 435 individuals from independent datasets allowed the identification of those at risk and correlated with younger age of onset and recurrent surgery. We identified 102 independent HEM risk loci harbouring genes whose expression is enriched in blood vessels and GI tissues, and in pathways associated with smooth muscles, epithelial and endothelial development and morphogenesis. Network transcriptomic analyses highlighted HEM gene coexpression modules that are relevant to the development and integrity of the musculoskeletal and epidermal systems, and the organisation of the extracellular matrix. Conclusion: HEM has a genetic component that predisposes to smooth muscle, epithelial and connective tissue dysfunction.

• Vedeld, Hege Marie; Grimsrud, Marit Mæhle; Andresen, Kim; Pharo, Heidi Dietrichson; von Seth, Erik & Karlsen, Tom Hemming [Show all 15 contributors for this article] (2021). Early and accurate detection of cholangiocarcinoma in patients with primary sclerosing cholangitis by methylation markers in bile. Hepatology. ISSN 0270-9139. doi: 10.1002/hep.32125. Full text in Research Archive
• Niemi, Mari E.K.; Karjalainen, Juha; Liao, Rachel G.; Neale, Benjamin M.; Daly, Mark & Ganna, Andrea [Show all 84 contributors for this article] (2021). Mapping the human genetic architecture of COVID-19. Nature. ISSN 0028-0836. 600(7889), p. 472–477. doi: 10.1038/s41586-021-03767-x. Full text in Research Archive Show summary

  The genetic make-up of an individual contributes to the susceptibility and response to viral infection. Although environmental, clinical and social factors have a role in the chance of exposure to SARS-CoV-2 and the severity of COVID-191,2, host genetics may also be important. Identifying host-specific genetic factors may reveal biological mechanisms of therapeutic relevance and clarify causal relationships of modifiable environmental risk factors for SARS-CoV-2 infection and outcomes. We formed a global network of researchers to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity. Here we describe the results of three genome-wide association meta-analyses that consist of up to 49,562 patients with COVID-19 from 46 studies across 19 countries. We report 13 genome-wide significant loci that are associated with SARS-CoV-2 infection or severe manifestations of COVID-19. Several of these loci correspond to previously documented associations to lung or autoimmune and inflammatory diseases3,4,5,6,7. They also represent potentially actionable mechanisms in response to infection. Mendelian randomization analyses support a causal role for smoking and body-mass index for severe COVID-19 although not for type II diabetes. The identification of novel host genetic factors associated with COVID-19 was made possible by the community of human genetics researchers coming together to prioritize the sharing of data, results, resources and analytical frameworks. This working model of international collaboration underscores what is possible for future genetic discoveries in emerging pandemics, or indeed for any complex human disease.

• Schneider, Kai Markus; Candels, Lena Susanna; Hov, Johannes R.; Myllys, Maiju; Hassan, Reham & Schneider, Carolin Victoria [Show all 26 contributors for this article] (2021). Gut microbiota depletion exacerbates cholestatic liver injury via loss of FXR signalling. Nature Metabolism. 3(9), p. 1228–1241. doi: 10.1038/s42255-021-00452-1.
• Jiang, Xiaojun; Bergquist, Annika; Löscher, Britt-Sabina; Venkatesh, Geetha; Mold, Jeff E. & Holm, Kristian [Show all 15 contributors for this article] (2021). A heterozygous germline CD100 mutation in a family with primary sclerosing cholangitis. Science Translational Medicine. ISSN 1946-6234. 13(582). doi: 10.1126/scitranslmed.abb0036.
• Bossen, Lars; Vesterhus, Mette Nåmdal; Hov, Johannes Espolin Roksund; Färkkilä, Martti; Rosenberg, William & Møller, Holger J. [Show all 9 contributors for this article] (2021). Circulating Macrophage Activation Markers Predict Transplant-Free Survival in Patients With Primary Sclerosing Cholangitis. Clinical and Translational Gastroenterology. ISSN 2155-384X. 12(3), p. e00315–e00315. doi: 10.14309/ctg.0000000000000315. Full text in Research Archive
• Dhillon, Amandeep Kaur; Rupp, Christian; Bergquist, Annika; Voitl, Robert; Folseraas, Trine & Trøseid, Marius [Show all 12 contributors for this article] (2021). Associations of neopterin and kynurenine–tryptophan ratio with survival in primary sclerosing cholangitis. Scandinavian Journal of Gastroenterology. ISSN 0036-5521. 56(4), p. 443–452. doi: 10.1080/00365521.2021.1880627. Full text in Research Archive
• Vesterhus, Mette; Nielsen, Mette Juul; Hov, Johannes Roksund; Saffioti, Francesca; Manon-Jensen, Tina & Leeming, Diana Julie [Show all 12 contributors for this article] (2021). Comprehensive assessment of ECM turnover using serum biomarkers establishes PBC as a high-turnover autoimmune liver disease. JHEP Reports. 3(1), p. 1–11. doi: 10.1016/j.jhepr.2020.100178. Full text in Research Archive
• Ellinghaus, David; Degenhardt, Frauke; Bujanda, Luis; Buti, Maria; Abillios, Agustin & Invernizzi, Pietro [Show all 30 contributors for this article] (2020). Genomewide Association Study of Severe Covid-19 with Respiratory Failure. New England Journal of Medicine. ISSN 0028-4793. doi: 10.1056/NEJMoa2020283.
• Thaventhiran, James; Allen, Hana Lango; Burren, Oliver S; Rae, William; Greene, Daniel & Staples, Emily [Show all 50 contributors for this article] (2020). Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature. ISSN 0028-0836. 583(7814), p. 90–95. doi: 10.1038/s41586-020-2265-1. Full text in Research Archive
• Lapitz, Ainhoa; Arbelaiz, Ander; O'Rourke, Colm J; Lavin, José L.; Casta, Adelaida La & Ibarra, Cesar [Show all 26 contributors for this article] (2020). Patients with Cholangiocarcinoma Present Specific RNA Profiles in Serum and Urine Extracellular Vesicles Mirroring the Tumor Expression: Novel Liquid Biopsy Biomarkers for Disease Diagnosis. Cells. ISSN 2073-4409. 9(3). doi: 10.3390/cells9030721..
• Mousa, Omar Y; Juran, Brian D; McCauley, Bryan M.; Vesterhus, Mette; Folseraas, Trine & Turgeon, Coleman T. [Show all 19 contributors for this article] (2020). Bile Acid Profiles in Primary Sclerosing Cholangitis and their Ability to Predict Hepatic Decompensation. Hepatology. ISSN 0270-9139. doi: 10.1002/hep.31652. Full text in Research Archive
• Kummen, Martin; Thingholm, Louise B.; Rühlemann, Malte C.; Holm, Kristian; Hansen, Simen Hyll & Moitinho-Silva, Lucas [Show all 22 contributors for this article] (2020). Altered Gut Microbial Metabolism of Essential Nutrients in Primary Sclerosing Cholangitis. Gastroenterology. ISSN 0016-5085. doi: 10.1053/j.gastro.2020.12.058. Full text in Research Archive
• Deeb, Maya; Karlsen, Tom Hemming & Hirschfield, Gideon M. (2020). The 6 C's of primary sclerosing cholangitis. Journal of Hepatology. ISSN 0168-8278. 73(5), p. 1255–1256. doi: 10.1016/j.jhep.2020.06.033.
• Valestrand, Laura Cecilie; Berntsen, Natalie Lie; Fei, Zheng; Schrumpf, Erik; Hansen, Simen Hyll & Karlsen, Tom Hemming [Show all 10 contributors for this article] (2020). Lipid antigens in bile from patients with chronic liver diseases activate natural killer T cells. Clinical and Experimental Immunology. ISSN 0009-9104. doi: 10.1111/cei.13541. Full text in Research Archive
• Goeppert, Benjamin; Folseraas, Trine; Roessler, Stephanie; Kloor, Matthias; Volckmar, Anna-Lena & Endris, Volker [Show all 36 contributors for this article] (2020). Genomic characterization of cholangiocarcinoma in primary sclerosing cholangitis reveals therapeutic opportunities. Hepatology. ISSN 0270-9139. 72(4), p. 1253–1266. doi: 10.1002/hep.31110. Full text in Research Archive
• Lohse, Ansgar W.; Sebode, Marcial; Jørgensen, Marianne H.; Ytting, Henriette; Karlsen, Tom Hemming & Kelly, Deirdre [Show all 8 contributors for this article] (2020). Second-line and third-line therapy for autoimmune hepatitis: A position statement from the European Reference Network on Hepatological Diseases and the International Autoimmune Hepatitis Group. Journal of Hepatology. ISSN 0168-8278. p. 1–12. doi: 10.1016/j.jhep.2020.07.023. Full text in Research Archive
• Kummen, Martin; Solberg, Ole Geir; Larsen, Christopher Storm; Holm, Kristian; Ragnarsson, Asgrimur & Trøseid, Marius [Show all 18 contributors for this article] (2020). Rosuvastatin alters the genetic composition of the human gut microbiome. Scientific Reports. ISSN 2045-2322. 10:5397, p. 1–9. doi: 10.1038/s41598-020-62261-y. Full text in Research Archive
• Vesterhus, Mette & Karlsen, Tom Hemming (2020). Emerging therapies in primary sclerosing cholangitis: pathophysiological basis and clinical opportunities. Journal of gastroenterology. ISSN 0944-1174. 55, p. 588–614. doi: 10.1007/s00535-020-01681-z. Full text in Research Archive
• Melum, Espen; Jiang, Xiaojun; Baker, Kirsti B; Macedo, M Fatima; Fritsch, Jürgen & Dowds, C Marie [Show all 21 contributors for this article] (2019). Control of CD1d-restricted antigen presentation and inflammation by sphingomyelin. Nature Immunology. ISSN 1529-2908. 20(12), p. 1644–1655. doi: 10.1038/s41590-019-0504-0. Full text in Research Archive
• Rühlemann, Malte C.; Liwinski, Timur; Heinsen, Femke-Anouska; Bang, Corinna; Zenouzi, Roman & Kummen, Martin [Show all 17 contributors for this article] (2019). Consistent alterations in faecal microbiomes of patients with primary sclerosing cholangitis independent of associated colitis. Alimentary Pharmacology and Therapeutics. ISSN 0269-2813. 50(5), p. 580–589. doi: 10.1111/apt.15375. Full text in Research Archive
• Liwinski, Timur; Zenouzi, Roman; John, Clara; Ehlken, Hanno; Rühlemann, Malte C. & Bang, Corinna [Show all 18 contributors for this article] (2019). Alterations of the bile microbiome in primary sclerosing cholangitis. Gut. ISSN 0017-5749. p. 1–8. doi: 10.1136/gutjnl-2019-318416. Full text in Research Archive
• Thingholm, Louise B.; Rühlemann, Malte C.; Koch, Manja; Fuqua, Brie; Laucke, Guido & Böhm, Ruwen [Show all 25 contributors for this article] (2019). Obese individuals with and without type 2 diabetes show different gut microbial functional capacity and composition. Cell Host and Microbe. ISSN 1931-3128. 26(2), p. 252–264.e10. doi: 10.1016/j.chom.2019.07.004.
• Dhillon, Amandeep Kaur; Kremer, Andreas E.; Kummen, Martin; Boberg, Kirsten Muri; Elferink, Ronald P. Oude & Karlsen, Tom Hemming [Show all 9 contributors for this article] (2019). Autotaxin activity predicts transplant-free survival in primary sclerosing cholangitis. Scientific Reports. ISSN 2045-2322. 9(1). doi: 10.1038/s41598-019-44762-7. Full text in Research Archive
• Banales, Jesus M.; Huebert, Robert C.; Karlsen, Tom Hemming; Strazzabosco, Mario; LaRusso, Nicholas F. & Gores, Gregory J. (2019). Cholangiocyte pathobiology. Nature reviews: Gastroenterology & hepatology. ISSN 1759-5045. 16(5), p. 269–281. doi: 10.1038/s41575-019-0125-y. Full text in Research Archive
• Schneditz, Georg Thomas; Elias, Joshua E.; Pagano, Ester; Cader, M. Zaeem; Saveljeva, Svetlana & Long, Kathleen [Show all 14 contributors for this article] (2019). GPR35 promotes glycolysis, proliferation, and oncogenic signaling by engaging with the sodium potassium pump. Science Signaling. ISSN 1945-0877. 12:eaau9048(562), p. 1–20. doi: 10.1126/scisignal.aau9048. Full text in Research Archive
• Jørgensen, Silje Fjellgård; Macpherson, Magnhild Eide; Bjørnetrø, Tonje; Holm, Kristian; Kummen, Martin & Rashidi, Azita [Show all 18 contributors for this article] (2019). Rifaximin alters gut microbiota profile, but does not affect systemic inflammation - a randomized controlled trial in common variable immunodeficiency. Scientific Reports. ISSN 2045-2322. 9:167, p. 1–10. doi: 10.1038/s41598-018-35367-7. Full text in Research Archive
• Dhillon, Amandeep Kaur; Kummen, Martin; Trøseid, Marius; Åkra, Sissel; Liaskou, Evaggelia & Moum, Bjørn [Show all 10 contributors for this article] (2019). Circulating markers of gut barrier function associated with disease severity in primary sclerosing cholangitis. Liver international (Print). ISSN 1478-3223. 39(2), p. 371–381. doi: 10.1111/liv.13979. Full text in Research Archive
• Nielsen, MJ; Thorburn, Douglas; Leeming, DJ; Hov, Johannes Espolin Roksund; Nygård, Ståle & Moum, Bjørn [Show all 15 contributors for this article] (2018). Serological markers of extracellular matrix remodeling predict transplant-free survival in primary sclerosing cholangitis. Alimentary Pharmacology and Therapeutics. ISSN 0269-2813. 48, p. 179–189. doi: 10.1111/apt.14806.
• Goode, EC; Clark, AB; Melis, GM; Srivastava, B; Spiess, K & Gelson, WTH [Show all 24 contributors for this article] (2018). Factors Associated With Outcomes of Patients With Primary Sclerosing Cholangitis and Development and Validation of a Risk Scoring System. Hepatology. ISSN 0270-9139. 69(5), p. 2120–2135. doi: 10.1002/hep.30479. Full text in Research Archive
• Carpino, Guido; Cardinale, Vincenzo; Folseraas, Trine; Overi, Diletta; Grzyb, Krzysztof & Constantini, David [Show all 11 contributors for this article] (2018). Neoplastic Transformation of the Peribiliary Stem Cell Niche in Cholangiocarcinoma Arisen in Primary Sclerosing Cholangitis. Hepatology. ISSN 0270-9139. 69(2), p. 622–638. doi: 10.1002/hep.30210. Full text in Research Archive
• Chung, Brian Kai-Ho; Henriksen, Eva Kristine Klemsdal; Jørgensen, Kristin Kaasen; Karlsen, Tom Hemming; Hirschfield, Gideon & Liaskou, Evaggelia (2018). Gut and Liver B Cells of Common Clonal Origin in Primary Sclerosing Cholangitis-Inflammatory Bowel Disease. Hepatology communications.. ISSN 2471-254X. 2(8), p. 960–971. doi: 10.1002/hep4.1200. Full text in Research Archive
• Eaton, JE; Vesterhus, Mette; McCauley, Bryan M.; Atkinson, EJ; Schlicht, EM & Juran, BD [Show all 11 contributors for this article] (2018). Primary sclerosing cholangitis risk estimate tool (PREsTo) predicts outcomes of the disease: A derivation and validation study using machine learning. Hepatology. ISSN 0270-9139. p. 1–11. doi: 10.1002/hep.30085.
• Tronstad, Rune Rose; Polushina, Tatiana; Brattbakk, Hans-Richard; Stansberg, Christine; Volkmann, Hilde Løland Von & Hanevik, Kurt [Show all 19 contributors for this article] (2018). Genetic and transcriptional analysis of inflammatory bowel disease-associated pathways in patients with GUCY2C-linked familial diarrhea. Scandinavian Journal of Gastroenterology. ISSN 0036-5521. 53(10-11), p. 1264–1273. doi: 10.1080/00365521.2018.1521867.
• Cornberg, Markus; Tacke, Frank & Karlsen, Tom Hemming (2018). Clinical Practice Guidelines of the European Association for the study of the Liver – Advancing methodology but preserving practicability. Journal of Hepatology. ISSN 0168-8278. p. 1–3. doi: 10.1016/j.jhep.2018.10.011.
• Åberg, Fredrik; Isoniemi, Helena; Pukkala, Eero; Jalanko, Hannu; Rasmussen, Allan & Storm, Hans H. [Show all 17 contributors for this article] (2018). Cancer After Liver Transplantation in Children and Young Adults: A Population-Based Study From 4 Nordic Countries. Liver transplantation. ISSN 1527-6465. 24(9), p. 1252–1259. doi: 10.1002/lt.25305. Full text in Research Archive
• Berntsen, Natalie Lie; Fosby, Bjarte; Tan, Corey; Reims, Henrik Mikael; Øgaard, Jonas & Jiang, Xiaojun [Show all 12 contributors for this article] (2018). Natural killer T cells mediate inflammation in the bile ducts. Mucosal Immunology. ISSN 1933-0219. p. 1–9. doi: 10.1038/s41385-018-0066-8.
• Momozawa, Yukihide; Dmitrieva, Julia; Théâtre, Emilie; Deffontaine, Valérie; Rahmouni, Souad & Charloteaux, Benoît [Show all 36 contributors for this article] (2018). IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes. Nature Communications. ISSN 2041-1723. 9:2427, p. 1–18. doi: 10.1038/s41467-018-04365-8.
• Pollheimer, Marion J.; Racedo, Silvia; Mikels-Vigdal, Amanda; Marshall, Derek; Bowlus, Christopher & Lackner, Carolin [Show all 21 contributors for this article] (2018). Lysyl oxidase-like protein 2 (LOXL2) modulates barrier function in cholangiocytes in cholestasis. Journal of Hepatology. ISSN 0168-8278. 69(2), p. 368–377. doi: 10.1016/j.jhep.2018.04.009.
• Broce, Iris J.; Karch, Celeste M.; Wen, Natalie; Fan, Chun C.; Wang, Yunpeng & Hong Tan, Chin [Show all 29 contributors for this article] (2018). Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies. PLoS Medicine. ISSN 1549-1277. 15:e1002487(1), p. 1–20. doi: 10.1371/journal.pmed.1002487. Full text in Research Archive
• Nordin, A; Åberg, F; Pukkala, E; Pedersen, CR; Storm, HH & Rasmussen, A. [Show all 15 contributors for this article] (2018). Decreasing incidence of cancer after liver transplantation-A Nordic population-based study over 3 decades. American Journal of Transplantation. ISSN 1600-6135. 18(4), p. 952–963. doi: 10.1111/ajt.14507.
• Sampaziotis, Fotios; Justin, Alexander W.; Tysoe, Olivia C.; Sawiak, Stephen; Godfrey, Edmund M. & Upponi, Sara S. [Show all 43 contributors for this article] (2017). Reconstruction of the mouse extrahepatic biliary tree using primary human extrahepatic cholangiocyte organoids. Nature Medicine. ISSN 1078-8956. 23(8), p. 954–963. doi: 10.1038/nm.4360.
• Maroni, L.; Hohenester, SD; van de Graaf, SFJ; Tolenaars, D; van Lieden, K & Verheij, J [Show all 10 contributors for this article] (2017). Knockout of the primary sclerosing cholangitis-risk gene Fut2 causes liver disease in mice. Hepatology. ISSN 0270-9139. 66(2), p. 542–554. doi: 10.1002/hep.29029.
• Alberts, R; de Vries, EMG; Goode, EC; Jiang, Xiaojun; Sampaziotis, Fotios & Rombouts, K [Show all 50 contributors for this article] (2017). Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis. Gut. ISSN 0017-5749. 67(8), p. 1517–1524. doi: 10.1136/gutjnl-2016-313598.
• Chung, Brian K.; Karlsen, Tom Hemming & Folseraas, Trine (2017). Cholangiocytes in the pathogenesis of primary sclerosing cholangitis and development of cholangiocarcinoma. Biochimica et Biophysica Acta - Molecular Basis of Disease. ISSN 0925-4439. 1864(4), p. 1390–1400. doi: 10.1016/j.bbadis.2017.08.020. Show summary

  Primary sclerosing cholangitis (PSC) is an idiopathic cholangiopathy strongly associated with inflammatory bowel disease (IBD) and characterized by cholestasis, chronic immune infiltration and progressive fibrosis of the intrahepatic and extrahepatic bile ducts. PSC confers a high risk of cholangiocarcinoma (CCA) with PSC-CCA representing the leading cause of PSC-associated mortality. PSC-CCA is derived from cholangiocytes and associated progenitor cells - a heterogeneous group of dynamic epithelial cells lining the biliary tree that modulate the composition and volume of bile production by the liver. Infection, inflammation and cholestasis can trigger cholangiocyte activation leading to an increased expression of adhesion and antigen-presenting molecules as well as the release of various inflammatory and fibrogenic mediators. As a result, activated cholangiocytes engage in a myriad of cellular processes, including hepatocellular proliferation, apoptosis, angiogenesis and fibrosis. Cholangiocytes can also regulate the recruitment of immune cells, mesenchymal cells, and endothelial cells that participate in tissue repair and destruction in settings of persistent inflammation. In PSC, the role of cholangiocytes and the mechanisms governing their transformation to PSC-CCA are unclear however localization of disease suggests that cholangiocytes are a key target and potential regulator of hepatobiliary immunity, fibrogenesis and tumorigenesis. Herein, we summarize mechanisms of cholangiocyte activation in PSC and highlight new insights into disease pathways that may contribute to the development of PSC-CCA. This article is part of a Special Issue entitled: Cholangiocytes in Health and Disease edited by Jesus Banales, Marco Marzioni, Nicholas LaRusso and Peter Jansen

• Rühlemann, Malte C.; Degenhardt, Frauke; Thingholm, Louise B.; Wang, J; Skieceviciene, Jurgita & Rausch, Philipp [Show all 13 contributors for this article] (2017). Application of the distance-based F test in an mGWAS investigating β diversity of intestinal microbiota identifies variants in SLC9A8 (NHE8) and 3 other loci. Gut microbes. ISSN 1949-0976. doi: 10.1080/19490976.2017.1356979.
• Hov, Johannes Espolin Roksund & Karlsen, Tom Hemming (2017). The Microbiome in Primary Sclerosing Cholangitis: Current Evidence and Potential Concepts. Seminars in liver disease (Print). ISSN 0272-8087. 37(4), p. 314–331. doi: 10.1055/s-0037-1608801. Full text in Research Archive
• Berntsen, Natalie Lie; Fosby, Bjarte; Valestrand, Laura Cecilie; Tan, Corey; Reims, Henrik Mikael & Schrumpf, Elisabeth [Show all 9 contributors for this article] (2017). Establishment of a surgical bile duct injection technique giving direct access to the bile ducts for studies of the murine biliary tree. American Journal of Physiology - Gastrointestinal and Liver Physiology. ISSN 0193-1857. 314(3), p. G349–G359. doi: 10.1152/ajpgi.00124.2017.
• Carpino, Guido; Cardinale, Vincenzo; Folseraas, Trine; Overi, D; Floreani, A & Franchitto, Antonio [Show all 12 contributors for this article] (2017). Hepatic stem/progenitor cell activation differs between primary sclerosing and primary biliary cholangitis. American Journal of Pathology. ISSN 0002-9440. 188(3), p. 627–639. doi: 10.1016/j.ajpath.2017.11.010.
• Karlsen, Tom Hemming; Folseraas, Trine; Thorburn, Douglas & Vesterhus, Mette (2017). Primary sclerosing cholangitis - a comprehensive review. Journal of Hepatology. ISSN 0168-8278. 67(6), p. 1298–1323. doi: 10.1016/j.jhep.2017.07.022.
• Henriksen, Eva Kristine Klemsdal; Viken, Marte K; Wittig, Michael; Holm, Kristian; Folseraas, Trine & Mucha, Sören [Show all 29 contributors for this article] (2017). HLA haplotypes in primary sclerosing cholangitis patients of admixed and non-European ancestry. HLA. ISSN 2059-2302. 90(4), p. 228–233. doi: 10.1111/tan.13076.
• Weismüller, Tobias J.; Trivedi, Palak J.; Bergquist, Annika; Imam, Mohamad; Lenzen, Henrike & Ponsioen, Cyriel Y. [Show all 59 contributors for this article] (2017). Patient age, sex, and inflammatory bowel disease phenotype associate with course of primary sclerosing cholangitis. Gastroenterology. ISSN 0016-5085. 152(8), p. 1975–1984.e8. doi: 10.1053/j.gastro.2017.02.038.
• O'Hara, Steven P; Karlsen, Tom Hemming & LaRusso, Nicholas F. (2017). Cholangiocytes and the environment in primary sclerosing cholangitis: Where is the link? Gut. ISSN 0017-5749. 66(11), p. 1873–1877. doi: 10.1136/gutjnl-2017-314249.
• Koch, Manja; Freitag-Wolf, Sandra; Schlesinger, Sabrina; Borggrefe, Jan; Hov, Johannes Espolin Roksund & Jensen, Majken K. [Show all 23 contributors for this article] (2017). Serum metabolomic profiling highlights pathways associated with liver fat content in a general population sample. European Journal of Clinical Nutrition. ISSN 0954-3007. 71(8), p. 995–1001. doi: 10.1038/ejcn.2017.43.
• de Vries, Elisabeth M.G.; Färkkilä, Martti; Milkiewicz, Piotr; Hov, Johannes Espolin Roksund; Eksteen, Bertus & Thorburn, Douglas [Show all 21 contributors for this article] (2017). Enhanced liver fibrosis test predicts transplant-free survival in primary sclerosing cholangitis, a multi-centre study. Liver international (Print). ISSN 1478-3223. 37(10), p. 1554–1561. doi: 10.1111/liv.13402. Full text in Research Archive

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• Jørgensen, Silje Fjellgård; Macpherson, Magnhild Eide; Bjørnetrø, Tonje; Holm, Kristian; Kummen, Martin & Rashidi, Azita [Show all 18 contributors for this article] (2024). Retraction to: Rifaximin alters gut microbiota profile, but does not affect systemic inflammation - a randomized controlled trial in common variable immunodeficiency (Scientific Reports, (2019), 9, 1, (167), 10.1038/s41598-018-35367-7). Scientific Reports. ISSN 2045-2322. 14(1). doi: 10.1038/s41598-024-54117-6.
• Krag, Aleksander; Buti, Maria; Lazarus, Jeffrey V.; Allen, Alina M.; Bowman, Jacqueline & Burra, Patrizia [Show all 25 contributors for this article] (2023). Uniting to defeat steatotic liver disease: A global mission to promote healthy livers and healthy lives. Journal of Hepatology. ISSN 0168-8278. 79(5), p. 1076–1078. doi: 10.1016/j.jhep.2023.07.029.
• Graupera, Isabel; Thiele, Maja; Ma, Ann T.; Serra-Burriel, Miquel; Pich, Judit & Fabrellas, Núria [Show all 47 contributors for this article] (2023). Correction: LiverScreen project: study protocol for screening for liver fibrosis in the general population in European countries (BMC Public Health, (2022), 22, 1, (1385), 10.1186/s12889-022-13724-6). BMC Public Health. ISSN 1471-2458. 23. doi: 10.1186/s12889-023-15867-6.
• Haukeland, John Willy; Vesterhus, Mette Nåmdal; Jørgensen, Kristin Kaasen; Frigstad, Svein Oskar & Karlsen, Tom Hemming (2023). FIB-4-testen som beslutningsverktøy. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 143(5). doi: 10.4045/tidsskr.23.0176.
• Hole, Mikal Jacob; Jørgensen, Kristin Kaasen; Holm, Kristian; Braadland, Peder Rustøen; Meyer-Myklestad, Malin Holm & Medhus, Asle Wilhelm [Show all 13 contributors for this article] (2023). Reply: The mucosal gut signature in primary sclerosing cholangitis before and after liver transplantation. Is the dysbiosis index really predictive for the recurrence of PSC? Hepatology. ISSN 0270-9139. 77(6), p. E188–E189. doi: 10.1097/HEP.0000000000000340.
• Vesterhus, Mette Nåmdal; Jørgensen, Kristin Kaasen; Frigstad, Svein Oskar; Haukeland, John Willy & Karlsen, Tom Hemming (2022). Vi trenger en ny strategi for leversykdom. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 142(3). doi: 10.4045/tidsskr.21.0892.
• Graupera, Isabel; Thiele, Maja; Ma, Ann T.; Serra-Burriel, Miquel; Pich, Judit & Fabrellas, Núria [Show all 46 contributors for this article] (2022). LiverScreen project: study protocol for screening for liver fibrosis in the general population in European countries. BMC Public Health. ISSN 1471-2458. 22(1). doi: 10.1186/s12889-022-13724-6.
• Krag, Aleksander & Karlsen, Tom Hemming (2022). Er leversygdomme et overset problem i Europa? Ugeskrift for Læger. ISSN 0041-5782. 184(4).
• Karlsen, Tom Hemming (2022). Understanding COVID-19 through genome-wide association studies. Nature Genetics. ISSN 1061-4036. 54(4), p. 368–369. doi: 10.1038/s41588-021-00985-x.
• Thaventhiran, James E. D.; Lango Allen, Hana; Burren, Oliver S.; Rae, William; Greene, Daniel & Staples, Emily [Show all 632 contributors for this article] (2020). Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort (Nature, (2020), 583, 7814, (90-95), 10.1038/s41586-020-2265-1). Nature. ISSN 0028-0836. 584(7819). doi: 10.1038/s41586-020-2556-6.
• Borgstrøm, Reidar; Karlsen, Tom Hemming & Lundin, Knut Erik Aslaksen (2019). Er årets villreinkvote på Hardangervidda en ny standard i norsk viltforvaltning? Nationen. ISSN 0805-3782.
• Reimers, Eigil; Borgstrøm, Reidar; Hjeljord, Olav; Lundin, Knut Erik Aslaksen & Karlsen, Tom Hemming (2019). Faglig uforsvarlig tiltak mot skrantesyke. Dagens næringsliv. ISSN 0803-9372.
• Karlsen, Tom Hemming & Newsome, Phil N (2019). The dawn of a new EASL – A new chapter in the history of the European Association for the Study of the liver. Journal of Hepatology. ISSN 0168-8278. 71(1), p. 5–8. doi: 10.1016/j.jhep.2019.03.010.
• Colombo, Massimo & Karlsen, Tom Hemming (2018). The EASL International Liver Foundation: A growing pup with missions that are distinct yet integrated with those of its mother. Journal of Hepatology. ISSN 0168-8278. doi: 10.1016/j.jhep.2018.11.017.
• Karlsen, Tom Hemming & Tacke, Frank (2018). <The times they are a'changin?> ? Positioning the European Association for the Study of the Liver in the changing landscape of hepatology. Journal of Hepatology. ISSN 0168-8278. 68(5), p. 873–875. doi: 10.1016/j.jhep.2018.02.001.
• Tronstad, Rune Rose; Fiskerstrand, Torunn; Karlsen, Tom Hemming; Knappskog, Per & Le Hellard, Stephanie (2019). Clinical and molecular effects of guanylate cyclase C-activation. Universitetet i Bergen. ISSN 9788230854426.

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