Cristin-resultat-ID: 1951505
Sist endret: 23. februar 2022, 09:48
NVI-rapporteringsår: 2021
Resultat
Vitenskapelig artikkel
2021

Genome-wide association study identifies RNF123 locus as associated with chronic widespread musculoskeletal pain

Bidragsytere:
  • Shafiqur Rahman
  • Bendik K S Winsvold
  • Sergio Chavez
  • Sigrid Børte
  • Vakov Tsepilov
  • Sodbo Zh Sharapov
  • mfl.

Tidsskrift

Annals of the Rheumatic Diseases
ISSN 0003-4967
e-ISSN 1468-2060
NVI-nivå 2

Om resultatet

Vitenskapelig artikkel
Publiseringsår: 2021
Volum: 80
Hefte: 9
Sider: 1227 - 1235
Open Access

Importkilder

Scopus-ID: 2-s2.0-85105748588

Beskrivelse Beskrivelse

Tittel

Genome-wide association study identifies RNF123 locus as associated with chronic widespread musculoskeletal pain

Sammendrag

Background and objectives Chronic widespread musculoskeletal pain (CWP) is a symptom of fibromyalgia and a complex trait with poorly understood pathogenesis. CWP is heritable (48%–54%), but its genetic architecture is unknown and candidate gene studies have produced inconsistent results. We conducted a genome-wide association study to get insight into the genetic background of CWP. Methods Northern Europeans from UK Biobank comprising 6914 cases reporting pain all over the body lasting >3 months and 242 929 controls were studied. Replication of three independent genome-wide significant single nucleotide polymorphisms was attempted in six independent European cohorts (n=43 080; cases=14 177). Genetic correlations with risk factors, tissue specificity and colocalisation were examined. Results Three genome-wide significant loci were identified (rs1491985, rs10490825, rs165599) residing within the genes Ring Finger Protein 123 (RNF123), ATPase secretory pathway Ca 2+ transporting 1 (ATP2C1) and catechol-O-methyltransferase (COMT). The RNF123 locus was replicated (meta-analysis p=0.0002), the ATP2C1 locus showed suggestive association (p=0.0227) and the COMT locus was not replicated. Partial genetic correlation between CWP and depressive symptoms, body mass index, age of first birth and years of schooling were identified. Tissue specificity and colocalisation analysis highlight the relevance of skeletal muscle in CWP. Conclusions We report a novel association of RNF123 locus and a suggestive association of ATP2C1 locus with CWP. Both loci are consistent with a role of calcium regulation in CWP. The association with COMT, one of the most studied genes in chronic pain field, was not confirmed in the replication analysis.

Bidragsytere

Shafiqur Rahman

  • Tilknyttet:
    Forfatter
    ved King's College London

Bendik K S Winsvold

  • Tilknyttet:
    Forfatter
    ved Institutt for samfunnsmedisin og sykepleie ved Norges teknisk-naturvitenskapelige universitet
  • Tilknyttet:
    Forfatter
    ved Avdeling for forskning og utvikling, Nevroklinikken ved Oslo universitetssykehus HF
  • Tilknyttet:
    Forfatter
    ved Nevrologisk avdeling ved Oslo universitetssykehus HF

Sergio Chavez

  • Tilknyttet:
    Forfatter
    ved Erasmus MC: Univeritair Medisch Centrum Rotterdam

Sigrid Børte

  • Tilknyttet:
    Forfatter
    ved Nevroklinikken ved Universitetet i Oslo
  • Tilknyttet:
    Forfatter
    ved Institutt for samfunnsmedisin og sykepleie ved Norges teknisk-naturvitenskapelige universitet
  • Tilknyttet:
    Forfatter
    ved Forsknings- og formidlingsenheten for muskelskjeletthelse (FORMI) ved Oslo universitetssykehus HF

Vakov Tsepilov

  • Tilknyttet:
    Forfatter
    ved Nederland
  • Tilknyttet:
    Forfatter
    ved Novosibirsk National Research State University
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