Contribution of Genetic Factors to Sjögren’s Syndrome and Sjögren’s Syndrome Related Lymphomagenesis

Nezos, Adrianos; Mavragani, Clio P.

doi:10.1155/2015/754825

Cited by 31 publications

(18 citation statements)

References 113 publications

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“…In addition, two polymorphisms of methylene-tetrapholate reductase (MTHFR) gene are considered risk factors for lymphoma in SS patients [ 41 ]. While gene polymorphism plays an indisputable role in the triggering phase of SS, the individual contribution of each genetic factor remains to be assessed [ 42 ].…”

Section: Physiopathology Of Sjögren’s Syndromementioning

confidence: 99%

Current State of Knowledge on Primary Sjögren’s Syndrome, an Autoimmune Exocrinopathy

Parisis

Chivasso

Perret

et al. 2020

JCM

106

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Primary Sjögren’s syndrome (pSS) is a chronic systemic autoimmune rheumatic disease characterized by lymphoplasmacytic infiltration of the salivary and lacrimal glands, whereby sicca syndrome and/or systemic manifestations are the clinical hallmarks, associated with a particular autoantibody profile. pSS is the most frequent connective tissue disease after rheumatoid arthritis, affecting 0.3–3% of the population. Women are more prone to develop pSS than men, with a sex ratio of 9:1. Considered in the past as innocent collateral passive victims of autoimmunity, the epithelial cells of the salivary glands are now known to play an active role in the pathogenesis of the disease. The aetiology of the “autoimmune epithelitis” still remains unknown, but certainly involves genetic, environmental and hormonal factors. Later during the disease evolution, the subsequent chronic activation of B cells can lead to the development of systemic manifestations or non-Hodgkin’s lymphoma. The aim of the present comprehensive review is to provide the current state of knowledge on pSS. The review addresses the clinical manifestations and complications of the disease, the diagnostic workup, the pathogenic mechanisms and the therapeutic approaches.

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Section: Physiopathology Of Sjögren’s Syndromementioning

confidence: 99%

Current State of Knowledge on Primary Sjögren’s Syndrome, an Autoimmune Exocrinopathy

Parisis

Chivasso

Perret

et al. 2020

JCM

106

View full text Add to dashboard Cite

show abstract

“…To date, a broad spectrum of polymorphisms not related to MHC genes has been investigated in SS. Recently, Nezos and Mavragani classified three classes of genes whose polymorphisms are possibly implicated in disease pathogenesis: genes involved in the interferon (IFN) pathway, genes involved in B cell function, and genes involved in the NF- κ B pathway [14].…”

Section: Introductionmentioning

confidence: 99%

STAT4,TRAF3IP2,IL10, andHCP5Polymorphisms in Sjögren’s Syndrome: Association with Disease Susceptibility and Clinical Aspects

Colafrancesco

Ciccacci

Priori

et al. 2019

Journal of Immunology Research

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Sjögren’s syndrome (SS) is a chronic autoimmune condition characterized by autoantibody production, sicca syndrome, and periepithelial lymphocytic lesions in target tissues. A predisposing genetic background is likely, and, to date, several polymorphisms in non-HLA genes have been explored with interesting results. We investigated the association between the STAT4, TRAF3IP2, HCP5, and IL10 polymorphisms and SS susceptibility and their possible role in the modulation of clinical and laboratory features. 195 consecutive patients with SS were enrolled and clinical and laboratory data were collected. 248 age- and sex-matched healthy subjects were used as controls. Genotyping was performed by allelic discrimination assays. A case-control association study and a phenotype-genotype correlation analysis were performed. A genetic risk profile was developed considering the risk alleles. Both the variant alleles of rs7574865 in the STAT4 gene and rs3099844 in the HCP5 gene were significantly more prevalent in patients than in controls (OR=1.91 and OR=2.44, respectively). The variant allele of rs3024505 of IL10 resulted to be a susceptibility allele (OR=1.52), while the variant allele of rs1800872 seemed to confer a protective effect for the development of the disease (OR=0.65). A risk genetic profile showed a higher probability to develop the disease in subjects with at least three risk alleles; subjects with 4 risk alleles were not observed in the controls. HCP5 rs3099844 was associated with anti-SSA (P=0.006, OR=3.07) and anti-SSB (P=0.005, OR=2.66) antibodies, severity of focus score (P=0.03, OR=12), and lymphoma development (P=0.002, OR=7.23). Patients carrying the STAT4 rs7574965 variant allele had a higher risk of monoclonal component and leukopenia (P=0.002, OR=7.6; P=0.048, OR=2.01, respectively). We confirmed the association of SS with the STAT4 and IL10 genes and we describe a novel association with HCP5. In particular, we describe an association of this specific SNP of HCP5 not only with disease development but also with autoantibody production and focus score suggesting a potential contribution of this variant to a more severe phenotype.

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“…Although the etiology is still unclear, several factors have been postulated to explain the pathogenesis of the disease, such as genetic, hormonal and infectious agents. About genetic factors, population studies reveal MHC genes as critical contributors to the pathogenesis, especially those which encode HLA-DR and HLA-DQ antigens 7 .…”

Section: Introductionmentioning

confidence: 99%

Orofacial Manifestations and Temporomandibular Disorders of Sjögren Syndrome: An Observational Study

Crincoli¹,

Comite²,

Guerrieri³

et al. 2018

Int. J. Med. Sci.

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AIMS: Sjӧgren Syndrome is a disorder involving oral tissues, with xerostomia, dysgeusia, dysphagia, tooth decay, gingivitis, angular cheilitis and glossitis. Temporomandibular disorders are a generic term referred to clinical conditions involving the jaw muscles and temporomandibular joint. The aim of this study was to investigate the prevalence of oral manifestations and temporomandibular disorders (TMD) in Sjӧgren Syndrome (SS) patients compared with healthy people.METHODS: The study group included 72 SS patients (2 men, 70 women) diagnosed according to the American-European Consensus Group (AECG) Criteria. A randomly selected group of 72 patients, matched by sex and age, served as control group. The examination for TMD signs and symptoms was based on the standardized Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) through a questionnaire and clinical examination.RESULTS: SS patients complained more frequently (95.8%) of oral symptoms (xerostomia, dysgeusia, dysphagia) than controls (22.2%) (χ2= 80.66 p< 0.001). TMD symptoms (muscle pain on chewing, difficulty in mouth opening, arthralgia, headaches, tinnitus) were complained by 91.7% of SS patients and by 84.7% of controls (χ2= 1,667 p= 0,196). At the clinical examination, 91,7% of SS had at least one oral sign respect to 75 % of controls. The salivary flow measurements showed high statistical significance between the two groups (Unpaired test, p< 0,0001). Myofascial pain (caused by muscular contracture) was significantly higher in the study group than in the control one (p≤ 0,05). Furthermore 18,05% of SS patients showed deflection versus 5,5% of controls (χ2=5,402 p=0,020).CONCLUSIONS: Sjӧgren's Syndrome seems to play a role in temporomandibular joint disorders.

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Contribution of Genetic Factors to Sjögren’s Syndrome and Sjögren’s Syndrome Related Lymphomagenesis

Cited by 31 publications

References 113 publications

Current State of Knowledge on Primary Sjögren’s Syndrome, an Autoimmune Exocrinopathy

Current State of Knowledge on Primary Sjögren’s Syndrome, an Autoimmune Exocrinopathy

STAT4,TRAF3IP2,IL10, andHCP5Polymorphisms in Sjögren’s Syndrome: Association with Disease Susceptibility and Clinical Aspects

Orofacial Manifestations and Temporomandibular Disorders of Sjögren Syndrome: An Observational Study

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