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

Appel, Silke; Hellard, Stéphanie Le; Bruland, Ove; Brun, Johan G.; Omdal, Roald; Kristjánsdóttir, Guðrún; Theander, Elke; Nordmark, Gunnel; Kvarnström, Marika; Eriksson, Per; Rönnblom, Lars; Wahren‐Herlenius, Marie; Jönsson, Roland

doi:10.1136/ard.2010.138966

Cited by 23 publications

(20 citation statements)

References 13 publications

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“…Recent studies, however, revealed IRF5 and STAT4 gene variants associated with an increased risk Sjögren's syndrome [17][18][19]. Moreover, the largest association study performed so far using combined patient material from Sweden and Norway revealed genetic association also with EBF1, FAM167A-BLK and TNFSF4 [20] as well as CHRM3 [21].…”

Section: Genetic Aspects In Sjögren's Syndromementioning

confidence: 90%

The complexity of Sjögren's syndrome: Novel aspects on pathogenesis

et al. 2011

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Section: Genetic Aspects In Sjögren's Syndromementioning

confidence: 90%

The complexity of Sjögren's syndrome: Novel aspects on pathogenesis

et al. 2011

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“…Moreover, most interesting is the association of the CHRM3 (cholinergic receptor muscarinic 3) gene with pSS, a gene apparently not involved in the immune response. This association was observed in a combined Swedish and Norwegian cohort [68]. The muscarinic receptor 3 controls smooth muscle contraction and its stimulation causes secretion of glandular tissue.…”

Section: Genetics Of Sjö Gren's Syndromementioning

confidence: 93%

Genetics of systemic lupus erythematosus and Sjögren's syndrome: an update

Teruel

Alarcón‐Riquelme

2016

Current Opinion in Rheumatology

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SLE and Sjögren's syndrome are two closely related systemic autoimmune diseases that share multiple clinical and molecular aspects, including a significant number of susceptibility genes. Several genome-wide association studies were recently published in different populations that provide a better picture of their molecular mechanisms. It is becoming clear that their genetic architecture is quite well established, but more information is required on expression quantitative trait loci, epigenetic genome-wide analyses, gene × gene interactions and the role of rare variants.

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“…In addition, several individual gene variants are associated with the pathogenesis of the specific diseases. Especially gene variants involved in the complement system (including ITGAM ) are specific for SLE patients [3, 109], and gene variants involving the muscarinic receptors ( CHRM3 ) are specific for SS patients [110]. Gene variants specific for RA patients include PADI4 variants coding for the enzyme that catalyzes the citrullination of arginine residues of proteins [19].…”

Section: Genetic Factors and Possible Mechanisms Associated With Imentioning

confidence: 99%

“…Gene variants specific for RA patients include PADI4 variants coding for the enzyme that catalyzes the citrullination of arginine residues of proteins [19]. Thus, genetic (and epigenetic) variations may contribute to specific immune-deficiencies and, thereby, altered immune response to EBV and altered control of EBV infection [2, 3, 19, 106–110]. The constant interplay between EBV reactivation and the host's immune response probably results in individual disease patterns and clinical manifestations according to the genetic background, site of reactivation or reinfection and type of infected cell [3, 19, 36, 40, 48, 110].…”

Section: Genetic Factors and Possible Mechanisms Associated With Imentioning

confidence: 99%

Epstein-Barr Virus in Systemic Autoimmune Diseases

Draborg

Duus

Houen

2013

Clinical and Developmental Immunology

194

144

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Systemic autoimmune diseases (SADs) are a group of connective tissue diseases with diverse, yet overlapping, symptoms and autoantibody development. The etiology behind SADs is not fully elucidated, but a number of genetic and environmental factors are known to influence the incidence of SADs. Recent findings link dysregulation of Epstein-Barr virus (EBV) with SAD development. EBV causes a persistent infection with a tight latency programme in memory B-cells, which enables evasion of the immune defence. A number of immune escape mechanisms and immune-modulating proteins have been described for EBV. These immune modulating functions make EBV a good candidate for initiation of autoimmune diseases and exacerbation of disease progression. This review focuses on systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and Sjögren's syndrome (SS) and sum up the existing data linking EBV with these diseases including elevated titres of EBV antibodies, reduced T-cell defence against EBV, and elevated EBV viral load. Together, these data suggest that uncontrolled EBV infection can develop diverse autoreactivities in genetic susceptible individuals with different manifestations depending on the genetic background and the site of reactivation.

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

Abstract: 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.

Cited by 23 publications

References 13 publications

The complexity of Sjögren's syndrome: Novel aspects on pathogenesis

The complexity of Sjögren's syndrome: Novel aspects on pathogenesis

Genetics of systemic lupus erythematosus and Sjögren's syndrome: an update

Epstein-Barr Virus in Systemic Autoimmune Diseases

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