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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 05909naa a2201201 4500 | |
| 001 | oai:prod.swepub.kib.ki.se:139012119 | |
| 003 | SwePub | |
| 008 | 240913s2018 | |||||||||||000 ||eng| | |
| 009 | oai:gup.ub.gu.se/261837 | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1390121192 URI |
| 024 | 7 | a https://doi.org/10.1136/gutjnl-2016-3135982 DOI |
| 024 | 7 | a https://gup.ub.gu.se/publication/2618372 URI |
| 040 | a (SwePub)kid (SwePub)gu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Alberts, R4 aut |
| 245 | 1 0 | a Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis |
| 264 | c 2017-08-04 | |
| 264 | 1 | b BMJ,c 2018 |
| 520 | a 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. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Gastroenterologi0 (SwePub)302132 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Gastroenterology and Hepatology0 (SwePub)302132 hsv//eng |
| 700 | 1 | a de Vries, EMG4 aut |
| 700 | 1 | a Goode, EC4 aut |
| 700 | 1 | a Jiang, XJ4 aut |
| 700 | 1 | a Sampaziotis, F4 aut |
| 700 | 1 | a Rombouts, K4 aut |
| 700 | 1 | a Bottcher, K4 aut |
| 700 | 1 | a Folseraas, T4 aut |
| 700 | 1 | a Weismuller, TJ4 aut |
| 700 | 1 | a Mason, AL4 aut |
| 700 | 1 | a Wang, WW4 aut |
| 700 | 1 | a Alexander, G4 aut |
| 700 | 1 | a Alvaro, D4 aut |
| 700 | 1 | a Bergquist, Au Karolinska Institutet4 aut |
| 700 | 1 | a Bjorkstrom, NKu Karolinska Institutet4 aut |
| 700 | 1 | a Beuers, U4 aut |
| 700 | 1 | a Bjornsson, E4 aut |
| 700 | 1 | a Boberg, KM4 aut |
| 700 | 1 | a Bowlus, CL4 aut |
| 700 | 1 | a Bragazzi, MC4 aut |
| 700 | 1 | a Carbone, M4 aut |
| 700 | 1 | a Chazouilleres, O4 aut |
| 700 | 1 | a Cheung, A4 aut |
| 700 | 1 | a Dalekos, G4 aut |
| 700 | 1 | a Eaton, J4 aut |
| 700 | 1 | a Eksteen, B4 aut |
| 700 | 1 | a Ellinghaus, D4 aut |
| 700 | 1 | a Farkkila, M4 aut |
| 700 | 1 | a Festen, EAM4 aut |
| 700 | 1 | a Floreani, A4 aut |
| 700 | 1 | a Franceschet, I4 aut |
| 700 | 1 | a Gotthardt, DN4 aut |
| 700 | 1 | a Hirschfield, GM4 aut |
| 700 | 1 | a van Hoek, B4 aut |
| 700 | 1 | a Holm, K4 aut |
| 700 | 1 | a Hohenester, S4 aut |
| 700 | 1 | a Hov, JR4 aut |
| 700 | 1 | a Imhann, F4 aut |
| 700 | 1 | a Invernizzi, P4 aut |
| 700 | 1 | a Juran, BD4 aut |
| 700 | 1 | a Lenzen, H4 aut |
| 700 | 1 | a Lieb, W4 aut |
| 700 | 1 | a Liu, JZ4 aut |
| 700 | 1 | a Marschall, Hanns-Ulrich,d 1954u Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine4 aut0 (Swepub:gu)xmarsh |
| 700 | 1 | a Marzioni, M4 aut |
| 700 | 1 | a Melum, E4 aut |
| 700 | 1 | a Milkiewicz, P4 aut |
| 700 | 1 | a Muller, T4 aut |
| 700 | 1 | a Pares, A4 aut |
| 700 | 1 | a Rupp, C4 aut |
| 700 | 1 | a Rust, C4 aut |
| 700 | 1 | a Sandford, RN4 aut |
| 700 | 1 | a Schramm, C4 aut |
| 700 | 1 | a Schreiber, S4 aut |
| 700 | 1 | a Schrumpf, E4 aut |
| 700 | 1 | a Silverberg, MS4 aut |
| 700 | 1 | a Srivastava, B4 aut |
| 700 | 1 | a Sterneck, M4 aut |
| 700 | 1 | a Teufel, A4 aut |
| 700 | 1 | a Vallier, L4 aut |
| 700 | 1 | a Verheij, J4 aut |
| 700 | 1 | a Vila, AV4 aut |
| 700 | 1 | a de Vries, B4 aut |
| 700 | 1 | a Zachou, K4 aut |
| 700 | 1 | a Chapman, RW4 aut |
| 700 | 1 | a Manns, MP4 aut |
| 700 | 1 | a Pinzani, M4 aut |
| 700 | 1 | a Rushbrook, SM4 aut |
| 700 | 1 | a Lazaridis, KN4 aut |
| 700 | 1 | a Franke, A4 aut |
| 700 | 1 | a Anderson, CA4 aut |
| 700 | 1 | a Karlsen, TH4 aut |
| 700 | 1 | a Ponsioen, CY4 aut |
| 700 | 1 | a Weersma, RK4 aut |
| 710 | 2 | a Karolinska Institutetb Institutionen för medicin, avdelningen för molekylär och klinisk medicin4 org |
| 773 | 0 | t Gutd : BMJg 67:8, s. 1517-1524q 67:8<1517-1524x 1468-3288x 0017-5749 |
| 856 | 4 | u https://www.hirsla.lsh.is/bitstream/2336/620695/1/Genetic%20association%20....pdf |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:139012119 |
| 856 | 4 8 | u https://doi.org/10.1136/gutjnl-2016-313598 |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/261837 |
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- Alberts, R
- de Vries, EMG
- Goode, EC
- Jiang, XJ
- Sampaziotis, F
- Rombouts, K
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- Bottcher, K
- Folseraas, T
- Weismuller, TJ
- Mason, AL
- Wang, WW
- Alexander, G
- Alvaro, D
- Bergquist, A
- Bjorkstrom, NK
- Beuers, U
- Bjornsson, E
- Boberg, KM
- Bowlus, CL
- Bragazzi, MC
- Carbone, M
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- Cheung, A
- Dalekos, G
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- Ellinghaus, D
- Farkkila, M
- Festen, EAM
- Floreani, A
- Franceschet, I
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- Hirschfield, GM
- van Hoek, B
- Holm, K
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- Lenzen, H
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- Chapman, RW
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- Rushbrook, SM
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- Franke, A
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- Weersma, RK
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