Ändra sökning
RefereraExporteraLänk till posten
Permanent länk

Direktlänk
Referera
Referensformat
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Annat format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annat språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf
Potential association of muscarinic receptor 3 gene variants with primary Sjögrens syndrome
Broegelmann Research Laboratory, The Gade Institute, University of Bergen, Bergen, Norway .
Department of Clinical Medicine, University of Bergen, Bergen, Norway .
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway .
Department of Rheumatology, Haukeland University Hospital, Bergen, Norway .
Visa övriga samt affilieringar
2011 (Engelska)Ingår i: ANNALS OF THE RHEUMATIC DISEASES, ISSN 0003-4967, Vol. 70, nr 7, s. 1327-1329Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Background Primary Sjogrens syndrome (pSS) is characterised by a chronic inflammation of exocrine glands. Salivary gland infiltrates, however, do not correlate well with disease symptoms, and a primary role for the salivary gland parenchyma in disease development has been suggested. Specifically, dysfunction of exocrine pathways involving the muscarinic receptor 3 (CHRM3) has been indicated. Objective To investigate possible genetic divergence in the CHRM3 gene in patients with pSS. Methods 530 patients with pSS and 532 controls from a combined Swedish and Norwegian cohort were genotyped for 84 single nucleotide polymorphisms (SNPs) distributed throughout CHRM3. Results Genetic association was observed with five SNPs localised in intron 3 and 4 of CHRM3, the strongest being rs7548522 (minor allele frequency = 0.06, OR=1.93, 95% CI (1.24 to 3.01); p=0.0033). In addition, clinical parameters, including focus score, abnormal Schirmers test and presence of autoantibodies, were associated with different SNPs in CHRM3. Conclusion The study demonstrates a novel association of CHRM3 polymorphisms with pSS, suggesting a functional role for CHRM3 and the salivary gland parenchyma in the pathogenesis of pSS.

Ort, förlag, år, upplaga, sidor
BMJ Publishing Group , 2011. Vol. 70, nr 7, s. 1327-1329
Nationell ämneskategori
Medicin och hälsovetenskap
Identifikatorer
URN: urn:nbn:se:liu:diva-68920DOI: 10.1136/ard.2010.138966ISI: 000291028800026OAI: oai:DiVA.org:liu-68920DiVA, id: diva2:422030
Tillgänglig från: 2011-06-10 Skapad: 2011-06-10 Senast uppdaterad: 2013-10-25

Open Access i DiVA

Fulltext saknas i DiVA

Övriga länkar

Förlagets fulltext

Sök vidare i DiVA

Av författaren/redaktören
Eriksson, Per
Av organisationen
ReumatologiHälsouniversitetetNjurmedicinska kliniken US
Medicin och hälsovetenskap

Sök vidare utanför DiVA

GoogleGoogle Scholar

doi
urn-nbn

Altmetricpoäng

doi
urn-nbn
Totalt: 169 träffar
RefereraExporteraLänk till posten
Permanent länk

Direktlänk
Referera
Referensformat
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Annat format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annat språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf