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Fourteen sequence v...
Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations
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- Olafsson, S (author)
- deCODE Genetics
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- Stridh, P (author)
- Karolinska Institute,Karolinska Institutet
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- Bos, SD (author)
- University of Oslo,Oslo university hospital,deCODE Genetics
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- Ingason, A (author)
- deCODE Genetics
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- Euesden, J (author)
- deCODE Genetics,King's College London,University of Bristol
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- Sulem, P (author)
- deCODE Genetics
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- Thorleifsson, G (author)
- deCODE Genetics
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- Gustafsson, O (author)
- deCODE Genetics
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- Johannesson, A (author)
- National University Hospital of Iceland
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Geirsson, AJ (author)
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- Thorsson, AV (author)
- National University Hospital of Iceland
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- Sigurgeirsson, B (author)
- National University Hospital of Iceland
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- Ludviksson, BR (author)
- National University Hospital of Iceland,University of Iceland
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- Olafsson, E (author)
- University of Iceland,National University Hospital of Iceland
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- Kristjansdottir, H (author)
- National University Hospital of Iceland
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- Jonasson, JG (author)
- National University Hospital of Iceland
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- Olafsson, JH (author)
- Karolinska Institute,National University Hospital of Iceland
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Orvar, KB (author)
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Benediktsson, R (author)
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Bjarnason, R (author)
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Kristjansdottir, S (author)
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- Gislason, T (author)
- University of Iceland,National University Hospital of Iceland
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Valdimarsson, T (author)
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- Mikaelsdottir, E (author)
- deCODE Genetics
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Sigurdsson, S (author)
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- Jonsson, S (author)
- deCODE Genetics,National University Hospital of Iceland
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- Rafnar, T (author)
- deCODE Genetics
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- Aarsland, D (author)
- Karolinska Institutet,King's College London,Stavanger University Hospital
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Djurovic, S (author)
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- Fladby, T (author)
- Akershus University Hospital
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- Knudsen, GP (author)
- Norwegian Institute of Public Health
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- Celius, EG (author)
- Oslo university hospital,University of Oslo
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- Myhr, KM (author)
- University of Bergen,Haukeland University Hospital
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Grondal, G (author)
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- Steinsson, K (author)
- National University Hospital of Iceland,deCODE Genetics
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- Valdimarsson, H (author)
- University of Iceland,National University Hospital of Iceland
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Bjornsson, S (author)
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Bjornsdottir, US (author)
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Bjornsson, ES (author)
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- Nilsson, Bjorn (author)
- 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 Medicine
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- Andreassen, OA (author)
- Oslo university hospital
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- Alfredsson, L (author)
- Stockholm County Council,Karolinska Institute,Karolinska Institutet
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- Hillert, J (author)
- Karolinska Institutet
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- Kockum, IS (author)
- Karolinska Institute,Karolinska Institutet
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- Masson, G (author)
- deCODE Genetics
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- Thorsteinsdottir, U (author)
- University of Iceland,deCODE Genetics
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- Gudbjartsson, DF (author)
- University of Iceland,deCODE Genetics
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- Stefansson, H (author)
- deCODE Genetics
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Hjaltason, H (author)
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- Harbo, HF (author)
- University of Oslo,Oslo university hospital
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- Olsson, T (author)
- Karolinska Institute,Karolinska Institutet
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- Jonsdottir, I (author)
- deCODE Genetics,National University Hospital of Iceland,University of Iceland
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Stefansson, K (author)
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(creator_code:org_t)
- 2017-08-08
- 2017
- English.
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In: NPJ genomic medicine. - : Springer Science and Business Media LLC. - 2056-7944. ; 2, s. 24-
- Related links:
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https://www.nature.c...
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http://dx.doi.org/10... (free)
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http://kipublication...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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Abstract
Subject headings
Close
- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
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Olafsson, S
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Stridh, P
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Bos, SD
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Ingason, A
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Euesden, J
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Sulem, P
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show more...
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Thorleifsson, G
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Gustafsson, O
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Johannesson, A
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Geirsson, AJ
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Thorsson, AV
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Sigurgeirsson, B
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Ludviksson, BR
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Olafsson, E
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Kristjansdottir, ...
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Jonasson, JG
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Olafsson, JH
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Orvar, KB
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Benediktsson, R
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Bjarnason, R
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Kristjansdottir, ...
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Gislason, T
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Valdimarsson, T
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Mikaelsdottir, E
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Sigurdsson, S
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Jonsson, S
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Rafnar, T
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Aarsland, D
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Djurovic, S
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Fladby, T
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Knudsen, GP
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Celius, EG
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Myhr, KM
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Grondal, G
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Steinsson, K
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Valdimarsson, H
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Bjornsson, S
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Bjornsdottir, US
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Bjornsson, ES
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Nilsson, Bjorn
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Andreassen, OA
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Alfredsson, L
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Hillert, J
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Kockum, IS
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Masson, G
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Thorsteinsdottir ...
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Gudbjartsson, DF
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Stefansson, H
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Hjaltason, H
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Harbo, HF
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Olsson, T
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Jonsdottir, I
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Stefansson, K
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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NPJ genomic medi ...
- By the university
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Karolinska Institutet
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Lund University