Cristin-resultat-ID: 1549309
Sist endret: 8. mars 2018 20:20
NVI-rapporteringsår: 2017
Resultat
Vitenskapelig artikkel
2017

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

Bidragsytere:
  • Sigurgeir Olafsson
  • S. Olafsson
  • Pernilla Stridh
  • P. Stridh
  • Steffan Daniel Bos
  • Andrés Ingason
  • mfl.

Tidsskrift

NPJ GENOMIC MEDICINE
ISSN 2056-7944
e-ISSN 2056-7944
NVI-nivå 1

Om resultatet

Vitenskapelig artikkel
Publiseringsår: 2017
Volum: 2
Artikkelnummer: 24
Open Access

Finansiering

  • Norges forskningsråd
    Prosjektkode: 223273
  • Stiftelsen Kristian Gerhard Jebsen
    Prosjektkode: SKGJ-MED-008

Beskrivelse Beskrivelse

Tittel

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

Sammendrag

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 x 10(-7), 4.3 x 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.

Bidragsytere

Sigurgeir Olafsson

  • Tilknyttet:
    Forfatter
    ved deCODE genetics

S. Olafsson

  • Tilknyttet:
    Forfatter
    ved deCODE genetics

Pernilla Stridh

  • Tilknyttet:
    Forfatter
    ved Karolinska Institutet

P. Stridh

  • Tilknyttet:
    Forfatter
    ved Karolinska Institutet

Steffan Daniël Bos-Haugen

Bidragsyterens navn vises på dette resultatet som Steffan Daniel Bos
  • Tilknyttet:
    Forfatter
    ved Nevrologisk avdeling ved Oslo universitetssykehus HF
  • Tilknyttet:
    Forfatter
    ved Nevrologisk avdeling ved Universitetet i Oslo
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