Advanced

Potential association of muscarinic receptor 3 gene variants with primary Sjogren's syndrome

Appel, Silke; Le Hellard, Stephanie; Bruland, Ove; Brun, Johan G.; Omdal, Roald; Kristjansdottir, Gudlaug; Theander, Elke LU ; Nordmark, Gunnel; Kvarnstrom, Marika and Eriksson, Per, et al. (2011) In Annals of the Rheumatic Diseases 70(7). p.1327-1329
Abstract
Background Primary Sjogren's 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... (More)
Background Primary Sjogren's 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 Schirmer's 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. (Less)
Please use this url to cite or link to this publication:
author
, et al. (More)
(Less)
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Annals of the Rheumatic Diseases
volume
70
issue
7
pages
1327 - 1329
publisher
British Medical Association
external identifiers
  • wos:000291028800026
  • scopus:79957668382
ISSN
1468-2060
DOI
10.1136/ard.2010.138966
language
English
LU publication?
yes
id
d582c0d6-489a-4ae5-8f2a-01037527994e (old id 1986182)
date added to LUP
2011-07-01 09:04:25
date last changed
2017-02-26 04:01:00
@article{d582c0d6-489a-4ae5-8f2a-01037527994e,
  abstract     = {Background Primary Sjogren's 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 Schirmer's 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.},
  author       = {Appel, Silke and Le Hellard, Stephanie and Bruland, Ove and Brun, Johan G. and Omdal, Roald and Kristjansdottir, Gudlaug and Theander, Elke and Nordmark, Gunnel and Kvarnstrom, Marika and Eriksson, Per and Ronnblom, Lars and Wahren-Herlenius, Marie and Jonsson, Roland},
  issn         = {1468-2060},
  language     = {eng},
  number       = {7},
  pages        = {1327--1329},
  publisher    = {British Medical Association},
  series       = {Annals of the Rheumatic Diseases},
  title        = {Potential association of muscarinic receptor 3 gene variants with primary Sjogren's syndrome},
  url          = {http://dx.doi.org/10.1136/ard.2010.138966},
  volume       = {70},
  year         = {2011},
}