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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 .
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2011 (English)In: ANNALS OF THE RHEUMATIC DISEASES, ISSN 0003-4967, Vol. 70, no 7, 1327-1329 p.Article in journal (Refereed) 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.

Place, publisher, year, edition, pages
BMJ Publishing Group , 2011. Vol. 70, no 7, 1327-1329 p.
National Category
Medical and Health Sciences
URN: urn:nbn:se:liu:diva-68920DOI: 10.1136/ard.2010.138966ISI: 000291028800026OAI: diva2:422030
Available from: 2011-06-10 Created: 2011-06-10 Last updated: 2013-10-25

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Eriksson, Per
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RheumatologyFaculty of Health SciencesDepartment of Nephrology UHL
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