The genetics of primary Sjögren’s syndrome

Abstract

Primary Sjögren's syndrome is an autoimmune disease characterized clinically by dryness of the eyes and mouth. The use of different classification criteria for primary Sjögren's syndrome has led to dramatically different estimates of prevalence and incidence. Despite this, several genetic and environmental factors are thought to play a role in the susceptibility to primary Sjögren's syndrome, as is the current conceptual formulation of the pathogenesis of many other autoimmune maladies. Primary Sjögren's syndrome appears a complicated polygenic disorder with many genes interacting with environmental factors. Similar to many other polygenic autoimmune rheumatic diseases, human leukocyte antigen associations have been reported and confirmed. Additionally, other non-human leukocyte antigen candidate genes have been reported to reveal association with primary Sjögren's syndrome, but, in general, these effects are not confirmed. The authors review the human leukocyte antigen and non-human leukocyte antigen genetic associations herewith, knowing that new technologies are providing access to the entire genome for association studies. No doubt a much more comprehensive description of the genetics of this disorder will soon emerge.

Clinical, Serologic, and Genetic Profiles of Patients With Associated Sjögren’s Syndrome and Systemic Lupus Erythematosus

“…The more frequent representation of the SS specific DRB1*0301 allele has been described, rather than the SLE-specific DRB1*1501 and DQB1*0602 alleles in secondary SS associated with SLE [17][18][19][20]. Our results did not show significant difference in the occurrence of the investigated alleles in the three patient groups.…”

Functional characterization of the MECP2/IRAK1 lupus risk haplotype in human T cells and a human MECP2 transgenic mouse

“…These data suggest that the lupus-associated MECP2 / IRAK1 haplotype is associated with DNA methylation changes which, in turn, might influence other disease-relevant pathways and other susceptibility loci outside of the MECP2 / IRAK1 locus. Indeed, HLA-DR contains one of the most robustly associated genetic susceptibility loci for lupus, and both HLA-DR and HLA-DQ are known susceptibility loci for primary Sjögren’s syndrome [27]. We have previously reported the genetic association between MECP2 and primary Sjögren’s syndrome [28].…”

Effects of oral consumption of the green tea polyphenol EGCG in a murine model for human Sjogren's syndrome, an autoimmune disease

“…Primary SS is characterized by inflammatory infiltration of the lacrimal and salivary glands, leading to loss of secretory function and resulting ocular and oral health problems. Environmental and genetic factors appear to contribute to the etiology (Bolstad and Jonsson, 2002; Yamamoto, 2003; Sawalha et al, 2003). T-cell-mediated cytotoxicity and autoantibodies are important in loss of gland function (Rehman, 2003; Manganelli and Fietta, 2003; Hayashi et al, 2003; Hayashi et al, 2004).…”