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Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations

Olafsson, S (author)
deCODE Genetics
Stridh, P (author)
Karolinska Institutet
Bos, SD (author)
University of Oslo,Oslo university hospital,deCODE Genetics
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Ingason, A (author)
deCODE Genetics
Euesden, J (author)
University of Bristol,deCODE Genetics,King's College London
Sulem, P (author)
deCODE Genetics
Thorleifsson, G (author)
deCODE Genetics
Gustafsson, O (author)
deCODE Genetics
Johannesson, A (author)
National University Hospital of Iceland
Geirsson, AJ (author)
Thorsson, AV (author)
National University Hospital of Iceland
Sigurgeirsson, B (author)
National University Hospital of Iceland
Ludviksson, BR (author)
National University Hospital of Iceland
Olafsson, E (author)
National University Hospital of Iceland,University of Iceland
Kristjansdottir, H (author)
National University Hospital of Iceland
Jonasson, JG (author)
National University Hospital of Iceland,University of Iceland
Olafsson, JH (author)
Karolinska Institutet,National University Hospital of Iceland
Orvar, KB (author)
Benediktsson, R (author)
Bjarnason, R (author)
Kristjansdottir, S (author)
Gislason, T (author)
National University Hospital of Iceland,University of Iceland
Valdimarsson, T (author)
Mikaelsdottir, E (author)
deCODE Genetics
Sigurdsson, S (author)
Jonsson, S (author)
deCODE Genetics,National University Hospital of Iceland
Rafnar, T (author)
deCODE Genetics
Aarsland, D (author)
Karolinska Institutet,Stavanger University Hospital,King's College London
Djurovic, S (author)
Fladby, T (author)
Akershus University Hospital
Knudsen, GP (author)
Norwegian Institute of Public Health
Celius, EG (author)
University of Oslo,Oslo university hospital
Myhr, KM (author)
Haukeland University Hospital,University of Bergen
Grondal, G (author)
Steinsson, K (author)
National University Hospital of Iceland,deCODE Genetics
Valdimarsson, H (author)
National University Hospital of Iceland,University of Iceland
Bjornsson, S (author)
Bjornsdottir, US (author)
Bjornsson, ES (author)
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
Andreassen, OA (author)
Oslo university hospital
Alfredsson, L (author)
Stockholm County Council,Karolinska Institutet
Hillert, J (author)
Karolinska Institutet
Kockum, IS (author)
Karolinska Institutet
Masson, G (author)
deCODE Genetics
Thorsteinsdottir, U (author)
deCODE Genetics,University of Iceland
Gudbjartsson, DF (author)
University of Iceland,deCODE Genetics
Stefansson, H (author)
deCODE Genetics
Hjaltason, H (author)
Harbo, HF (author)
Oslo university hospital,University of Oslo
Olsson, T (author)
Karolinska Institutet
Jonsdottir, I (author)
National University Hospital of Iceland,deCODE Genetics,University of Iceland
Stefansson, K (author)
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 (creator_code:org_t)
2017-08-08
2017
English.
In: NPJ genomic medicine. - : Springer Science and Business Media LLC. - 2056-7944. ; 2, s. 24-
Related links:
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • 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)

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