WFRF:(Geirsson H.)
Sökning: WFRF:(Geirsson H.) > Fourteen sequence v...
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 06741naa a2200961 4500 | |
| 001 | oai:prod.swepub.kib.ki.se:136895641 | |
| 003 | SwePub | |
| 008 | 240811s2017 | |||||||||||000 ||eng| | |
| 009 | oai:lup.lub.lu.se:e7a61e6b-fa4d-41f2-a091-9e246e6a4b36 | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1368956412 URI |
| 024 | 7 | a https://doi.org/10.1038/s41525-017-0027-22 DOI |
| 024 | 7 | a https://lup.lub.lu.se/record/e7a61e6b-fa4d-41f2-a091-9e246e6a4b362 URI |
| 040 | a (SwePub)kid (SwePub)lu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Olafsson, Su deCODE Genetics4 aut |
| 245 | 1 0 | a Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations |
| 264 | c 2017-08-08 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2017 |
| 520 | a A meta-analysis of publicly available summary statistics on multiple sclerosis combined with three Nordic multiple sclerosis cohorts (21,079 cases, 371,198 controls) revealed seven sequence variants associating with multiple sclerosis, not reported previously. Using polygenic risk scores based on public summary statistics of variants outside the major histocompatibility complex region we quantified genetic overlap between common autoimmune diseases in Icelanders and identified disease clusters characterized by autoantibody presence/absence. As multiple sclerosis-polygenic risk scores captures the risk of primary biliary cirrhosis and vice versa (P = 1.6 × 10−7, 4.3 × 10−9) we used primary biliary cirrhosis as a proxy-phenotype for multiple sclerosis, the idea being that variants conferring risk of primary biliary cirrhosis have a prior probability of conferring risk of multiple sclerosis. We tested 255 variants forming the primary biliary cirrhosis-polygenic risk score and found seven multiple sclerosis-associating variants not correlated with any previously established multiple sclerosis variants. Most of the variants discovered are close to or within immune-related genes. One is a low-frequency missense variant in TYK2, another is a missense variant in MTHFR that reduces the function of the encoded enzyme affecting methionine metabolism, reported to be dysregulated in multiple sclerosis brain. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 700 | 1 | a Stridh, Pu Karolinska Institute,Karolinska Institutet4 aut |
| 700 | 1 | a Bos, SDu University of Oslo,Oslo university hospital,deCODE Genetics4 aut |
| 700 | 1 | a Ingason, Au deCODE Genetics4 aut |
| 700 | 1 | a Euesden, Ju University of Bristol,King's College London,deCODE Genetics4 aut |
| 700 | 1 | a Sulem, Pu deCODE Genetics4 aut |
| 700 | 1 | a Thorleifsson, Gu deCODE Genetics4 aut |
| 700 | 1 | a Gustafsson, Ou deCODE Genetics4 aut |
| 700 | 1 | a Johannesson, Au National University Hospital of Iceland4 aut |
| 700 | 1 | a Geirsson, AJ4 aut |
| 700 | 1 | a Thorsson, AVu National University Hospital of Iceland4 aut |
| 700 | 1 | a Sigurgeirsson, Bu National University Hospital of Iceland4 aut |
| 700 | 1 | a Ludviksson, BRu National University Hospital of Iceland4 aut |
| 700 | 1 | a Olafsson, Eu National University Hospital of Iceland,University of Iceland4 aut |
| 700 | 1 | a Kristjansdottir, Hu National University Hospital of Iceland4 aut |
| 700 | 1 | a Jonasson, JGu National University Hospital of Iceland4 aut |
| 700 | 1 | a Olafsson, JHu Karolinska Institute,National University Hospital of Iceland4 aut |
| 700 | 1 | a Orvar, KB4 aut |
| 700 | 1 | a Benediktsson, R4 aut |
| 700 | 1 | a Bjarnason, R4 aut |
| 700 | 1 | a Kristjansdottir, S4 aut |
| 700 | 1 | a Gislason, Tu National University Hospital of Iceland,University of Iceland4 aut |
| 700 | 1 | a Valdimarsson, T4 aut |
| 700 | 1 | a Mikaelsdottir, Eu deCODE Genetics4 aut |
| 700 | 1 | a Sigurdsson, S4 aut |
| 700 | 1 | a Jonsson, Su deCODE Genetics,National University Hospital of Iceland4 aut |
| 700 | 1 | a Rafnar, Tu deCODE Genetics4 aut |
| 700 | 1 | a Aarsland, Du Karolinska Institutet,Stavanger University Hospital,King's College London4 aut |
| 700 | 1 | a Djurovic, S4 aut |
| 700 | 1 | a Fladby, Tu Akershus University Hospital4 aut |
| 700 | 1 | a Knudsen, GPu Norwegian Institute of Public Health4 aut |
| 700 | 1 | a Celius, EGu Oslo university hospital,University of Oslo4 aut |
| 700 | 1 | a Myhr, KMu University of Bergen,Haukeland University Hospital4 aut |
| 700 | 1 | a Grondal, G4 aut |
| 700 | 1 | a Steinsson, Ku National University Hospital of Iceland,deCODE Genetics4 aut |
| 700 | 1 | a Valdimarsson, Hu University of Iceland,National University Hospital of Iceland4 aut |
| 700 | 1 | a Bjornsson, S4 aut |
| 700 | 1 | a Bjornsdottir, US4 aut |
| 700 | 1 | a Bjornsson, ES4 aut |
| 700 | 1 | a Nilsson, Bjornu Lund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine4 aut0 (Swepub:lu)klin-bni |
| 700 | 1 | a Andreassen, OAu Oslo university hospital4 aut |
| 700 | 1 | a Alfredsson, Lu Stockholm County Council,Karolinska Institute,Karolinska Institutet4 aut |
| 700 | 1 | a Hillert, Ju Karolinska Institutet4 aut |
| 700 | 1 | a Kockum, ISu Karolinska Institute,Karolinska Institutet4 aut |
| 700 | 1 | a Masson, Gu deCODE Genetics4 aut |
| 700 | 1 | a Thorsteinsdottir, Uu deCODE Genetics,University of Iceland4 aut |
| 700 | 1 | a Gudbjartsson, DFu University of Iceland,deCODE Genetics4 aut |
| 700 | 1 | a Stefansson, Hu deCODE Genetics4 aut |
| 700 | 1 | a Hjaltason, H4 aut |
| 700 | 1 | a Harbo, HFu University of Oslo,Oslo university hospital4 aut |
| 700 | 1 | a Olsson, Tu Karolinska Institute,Karolinska Institutet4 aut |
| 700 | 1 | a Jonsdottir, Iu University of Iceland,National University Hospital of Iceland,deCODE Genetics4 aut |
| 700 | 1 | a Stefansson, K4 aut |
| 710 | 2 | a Karolinska Institutetb deCODE Genetics4 org |
| 773 | 0 | t NPJ genomic medicined : Springer Science and Business Media LLCg 2, s. 24-q 2<24-x 2056-7944 |
| 856 | 4 | u https://www.nature.com/articles/s41525-017-0027-2.pdf |
| 856 | 4 | u http://dx.doi.org/10.1038/s41525-017-0027-2x freey FULLTEXT |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:136895641 |
| 856 | 4 8 | u https://doi.org/10.1038/s41525-017-0027-2 |
| 856 | 4 8 | u https://lup.lub.lu.se/record/e7a61e6b-fa4d-41f2-a091-9e246e6a4b36 |
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- Fladby, T
- Knudsen, GP
- Celius, EG
- Myhr, KM
- Grondal, G
- Steinsson, K
- Valdimarsson, H
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- Bjornsdottir, US
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