3 research outputs found
Major alterations in the mononuclear phagocyte landscape associated with COVID-19 severity
- Author
- Akber Mira
- Aleman Soo
- Björkström N.K.
- Brighenti Susanna
- Chen Puran
- Dzidic Majda
- Eriksson Lars, I
- Folkesson Elin
- Ginhoux Florent
- Gredmark-Russ Sara
- Henter Jan-Inge
- Hertwig Laura
- Karolinska KI/K COVID-19 Study Group.
- Klingström J.
- Kvedaraite Egle
- Ljunggren Hans-Gustaf
- Lourda Magda
- Muvva Jagadeeswara Rao
- Myrberg Ida Hed
- Norrby-Teglund Anna
- Ponzetta Andrea
- Rooyackers Olav
- Sinha Indranil
- Strålin K.
- Svensson Mattias
- Publication venue
- 'Proceedings of the National Academy of Sciences'
- Publication date
- 21/01/2021
- Field of study
10.1073/pnas.2018587118Proceedings of the National Academy of Sciences of the United States of America1186e201858711
Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis
- Publication venue
- 'BMJ'
- Publication date
- 01/01/2018
- Field of study
Objective 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. Design We 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. Results We 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. Conclusion We 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. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018
The Sixth Problem of Generalized Algebraic Regression
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- T Bollerslev
- T Chang
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- T. Kariya
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- T. Mathew
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- T. Mueller-Gronbach
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- T. Roy
- T. Saito
- T. Soler
- T. Soler
- T. Szabados
- T. Tarpey
- T. Tarpey
- T. Teräsvirta
- T. Tjur
- T.A. Magness
- T.A. Yancey
- T.C. Koopmans
- T.F. Chan
- T.J. DiCiccio
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- T.J. Ulrych
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- V.K. Srivastava
- V.L. Girko
- V.L. Girko
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- V.R. Padmawar
- V.V. Anh
- V.V. Fedorov
- V.V. Fedorov
- V.V. Fedorov
- van S. Huffel
- van S. Huffel
- W Gander
- W Gautschi
- W Mueller
- W Oktaba
- W Sun
- W Wu
- W. Bischoff
- W. Bischoff
- W. Bischoff
- W. Förstner
- W. Klonecki
- W. Kruskal
- W. Krämer
- W. Mueller
- W. Näther
- W. Polasek
- W. Popinski
- W. Reilly
- W. Stefansky
- W.A. Behrens
- W.A. Thompson
- W.C. Guenther
- W.C. Krumbein
- W.G. Müller
- W.G. Müller
- W.G. Müller
- W.G. Müller
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- W.R. Zwet van
- W.S. Brown
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- X Chen
- X He
- X Zhan
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- X. Lin
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- Y Dodge
- Y Fujikoshi
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- Y.Y. Kagan
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- Z Chen
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- Publication venue
- 'Springer Science and Business Media LLC'
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