scholarly journals AB0016 ASSOCIATION OF PTPN22 GENETIC VARIANTS WITH DISEASE SUSCEPTIBILITY AND CLINICAL VARIABLES IN PRIMARY SJÖGREN SYNDROME

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1311.1-1312
Author(s):  
P. A. Menchaca Tapia ◽  
E. Oregón Romero ◽  
D. C. Salazar Camarena ◽  
M. Marin Rosales ◽  
J. F. Muñoz Valle ◽  
...  

Background:Primary Sjögren’s syndrome (pSS) is a systemic autoimmune disease characterized by dysfunction of exocrine glands secondary to lymphocytic infiltration. Lymphoid tyrosine phosphatase (LYP) regulates T and B lymphocyte activation.PTPN22gene encodes LYP; multiple polymorphic variants have been described as genetic risk factor of autoimmune diseases.Objectives:The aim was to analyze thePTPN22rs2488457G>C, rs33996649G>A, and rs2476601C>T genetic variants relationship with the development risk of pSS in the western Mexico population.Methods:One hundred and eighty healthy subjects (HS) and 150 pSS patients, classified according to EULAR 2016 criteria, were included. The genetic variants and mRNA expression were determined through PCR-RFLP and qPCR assays.Results:The frequency of heterozygote rs33996649GA genotype was higher in pSS patients than HS [OR=3.143 (1–10.234), p=0.046], and also, rs33996649GA genotype was associated with high SSDAI score (p=0.01). The pSS patients showed 44-fold more mRNA expression in comparison with HS (p=0.002), and mRNA expression correlates with SSDAI (r2=0.512, p=0.006).Conclusion:The rs33996649G>A genetic variant of thePTPN22gene is associated with increased development risk of pSS in the western Mexican population. The expression mRNA correlates with disease activity in pSS.References:[1]Brito-Zerón, P., Baldini, C., Bootsma, H., Bowman, S. J., Jonsson, R., Mariette, X., Ramos-Casals, M. (2016). Sjögren syndrome.Nature Reviews Disease Primers, 2(July), 1–20.https://doi.org/10.1038/nrdp.2016.47[2]Stanford, S. M., & Bottini, N. (2014). PTPN22: The archetypal non-HLA autoimmunity gene.Nature Reviews Rheumatology,10(10), 602–611.https://doi.org/10.1038/nrrheum.2014.109[3]Chen, Z., Zhang, H., Xia, B., Wang, P., Jiang, T., Song, M., & Wu, J. (2013). Association of PTPN22 gene (rs2488457) polymorphism with ulcerative colitis and high levels of PTPN22 mRNA in ulcerative colitis.International Journal of Colorectal Disease,28(10), 1351–1358.https://doi.org/10.1007/s00384-013-1671-3[4]Machado-Contreras, J. R., Muñoz-Valle, J. F., Cruz, A., Salazar-Camarena, D. C., Marín- Rosales, M., & Palafox-Sánchez, C. A. (2016b). Distribution of PTPN22 polymorphismsin SLE from western Mexico: correlation with mRNA expression and disease activity.Clinical and Experimental Medicine,16(3), 399–406.https://doi.org/10.1007/s10238-015-0359-0Disclosure of Interests:None declared

2015 ◽  
Vol 42 (8) ◽  
pp. 1427-1431 ◽  
Author(s):  
Roberta Priori ◽  
Antonina Minniti ◽  
Martina Derme ◽  
Barbara Antonazzo ◽  
Filippo Brancatisano ◽  
...  

Objective.To assess the quality of sexual life of women with primary Sjögren syndrome (pSS) and to identify its correlations with disease activity and damage, quality of life, and mood disorders.Methods.The quality of sexual life of 24 women with pSS was assessed with the Female Sexual Function Index (FSFI). Twenty-four healthy women, matched by age and hormonal status, were enrolled as controls. Mood disorders and quality of life were investigated using the Hospital Anxiety and Depression Scale (HADS) and the Medical Outcomes Study Short Form-36. Patients underwent a gynecological visit with vaginal pH measurement, cervicovaginal swabs, and Pap smears. Disease activity and damage were assessed by the European League Against Rheumatism Sjögren syndrome disease activity and damage indexes.Results.Patients with pSS showed a pathological mean FSFI score (19.1 ± 7.33) significantly different from controls (p = 0.004), both in menstruating women (p = 0.006) and in menopausal women (p = 0.03). Major differences between the 2 groups were detected in dyspareunia (p < 0.005), lubrication (p = 0.006), desire (p = 0.004), and arousal (p = 0.018). The FSFI score was inversely correlated with age (p = 0.008) and anxiety HADS (p = 0.031). No early anatomical changes, swabs, and Pap smear alterations were revealed in patients with pSS; however, vaginal pH was higher than normal in premenopausal patients (6.0 ± 0.77).Conclusion.Both premenopausal and postmenopausal women with pSS have a worse sexual quality of life. We reported a greater prevalence of dyspareunia that is statistically significant when compared with controls. The FSFI could be a useful tool to assess this topic, but has been neglected in the care of patients with pSS heretofore.


2015 ◽  
Vol 42 (3) ◽  
pp. 464-471 ◽  
Author(s):  
Anna Matilda Nilsson ◽  
Sandra Diaz ◽  
Elke Theander ◽  
Roger Hesselstrand ◽  
Eeva Piitulainen ◽  
...  

Objective.To assess the prevalence of chronic obstructive pulmonary disease (COPD) in patients with primary Sjögren syndrome (pSS) and to study the association of COPD with cigarette smoking, radiographic features, respiratory symptoms, disease activity, and laboratory inflammatory and serological features in patients with pSS.Methods.Fifty-one consecutive patients with pSS (mean age 60 yrs, range 29–82 yrs, 49 women) were assessed by pulmonary function tests (PFT). The PFT results were compared with previously studied population-based controls, standardizing results with regard to sex, age, height, weight, and cigarette smoking. In addition, patients with pSS were assessed by computed tomography of the chest, the European League Against Rheumatism Sjögren Syndrome Disease Activity Index and Patient Reported Index, the St. George’s Respiratory Questionnaire (which evaluates respiratory symptoms), and by laboratory inflammatory and serological tests.Results.Forty-one percent of all patients with pSS and 30% of the never-smoking patients with pSS fulfilled the Global Initiative for Chronic Obstructive Lung Disease criteria for COPD. Vital capacity (VC), forced expiratory volume in 1 s (FEV1), FEV1/VC ratio, and DLCO were significantly decreased while residual volume (RV) and the RV/total lung capacity ratio were significantly increased in patients with pSS. Moderate correlations between PFT results, symptoms, and disease activity were found. However, laboratory inflammatory and serological features were poorly associated with PFT results in patients with pSS.Conclusion.COPD was a common finding in patients with pSS, even among never-smoking patients. An obstructive pattern was the predominant PFT finding in patients with pSS, although a superimposed restrictive lung disease could not be excluded. The results suggest that the disease per se is involved in the development of COPD in pSS.


2015 ◽  
Vol 42 (7) ◽  
pp. 1119-1122 ◽  
Author(s):  
Sunil Das ◽  
DoQuyen Huynh ◽  
Hong Yang ◽  
Arnoldas Ceponis ◽  
Arthur Kavanaugh

Objective.To assess salivary gland ultrasonography (US) as a diagnostic tool for secondary Sjögren syndrome (sSS) in patients with rheumatoid arthritis (RA).Methods.Salivary gland US images from 30 patients with RA were graded using a validated semiquantitative scoring system. Sicca symptoms, oral health, and RA disease activity were assessed.Results.US changes consistent with SS were found in 40% of patients. Patients with higher US scores had more sicca symptoms as well as higher RA activity and poorer oral health.Conclusion.Salivary gland US may aid the diagnosis of sSS in patients with RA.


Author(s):  
Mohammed Amin Mohammed ◽  
Nesreen Moustafa Omar

Background and Aim: Ulcerative colitis (UC) is an immune-mediated systemic inflammatory process that destroys the intestinal mucosa. Ghrelin, an appetite-regulatory hormone, has anti-inflammatory effects including a decrease in circulating cytokines. Some reports demonstrated a strong relationship between the serum ghrelin level and the severity of mucosal inflammation in the gastrointestinal tract. The aim is to investigate serum levels and colonic mucosal mRNA expression of ghrelin, obestatin, and obestatin/ghrelin ratio in patients with UC and to determine their potential as markers for UC disease activity. Patients and Methods: seventy-five outpatients with UC and 45 age- and sex-matched healthy volunteers were enrolled in this study after written conscious consent and approval by the Institutional Review Board of Mansoura University. UC was diagnosed by conventional clinical, radiological, endoscopic, and histopathological criteria. Serum ghrelin, obestatin levels, and their mucosal mRNA expression were measured by ELISA kits and a real-time quantitative reverse transcriptase polymerase chain reaction according to the manufacturer’s protocols. Results: Serum levels and mucosal mRNA expression of ghrelin were significantly higher in patients with active UC than patients in remission p˂0.0001). Obestatin/ghrelin ratio was significantly lower in patients with active UC (0.26±0.08) than those in remission (0.523±0.16; p˂0.0001). Obestatin/ghrelin ratio was negatively and significantly correlated with inflammation and endoscopic scores, colitis activity index, serum ghrelin level, and its mucosal mRNA expression (p˂0.05). Conclusion: obestatin/ghrelin ratio might be a reliable surrogate non-invasive marker of disease activity in UC with significantly high sensitivity, specificity, predictive values, and diagnostic accuracy.


2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1771.1-1772
Author(s):  
A. Capacci ◽  
P. Rubortone ◽  
V. Varriano ◽  
A. Paglionico ◽  
S. Perniola ◽  
...  

Background:Sjogren Syndrome (SS) is an autoimmune exocrinopathy, resulting mainly in ocular and oral dryness, with approximately half of patients displaying symptoms from different organ systems, further adding to the heterogeneous clinical phenotype of the disease. Fatigue and pain are common systemic symptoms in patients with primary SS and fibromyalgia is a frequent condition associated with chronic diseases.Objectives:The aim of the study was to evaluate the impact of concomitant fibromyalgia in patients with Sjogren Syndrome in terms of clinical features and disease activity.Methods:50 patients with Sjogren Syndrome were enrolled in the study (100% female, age: 53.7 ± 13.2 years and disease duration: 8.7 ± 5.3 years), 25(50.0%) with concomitant fibromyalgia (SS/Fibro-group) and 25(50.0%) without (SS-group). 36 patients with primary fibromyalgia (Fibro-group) were included as control group. At study entry, demographic, educational, life-style and clinical parameters were recorded for each patient. SS was diagnosed according to the American College of Rheumatology (ACR) classification criteria (1) and fibromyalgia was diagnosed according to criteria for fibromyalgia defined by ACR (2). Moreover, each patient with fibromyalgia, with and without concomitant SS, was asked to fill a self-reported questionnaire to assess the impact of Fibromyalgia on multiple physical and psycological domains (Italian-FIQR).Results:Stratifying the study cohorts based on the demographic and life-style characteristics, no significant differences were found comparing SS-group, Fibro-group and SS/Fibro-group. However, considering the different organ involvement, SS/Fibro-group were more likely reporting arthralgia symptoms (100.0%) than SS-group (76.0% p=0.02), despite similar clinical evidence of arthritis-synovitis among the two groups (12.0% in both groups respectively, p=1.00). Moreover, SS/Fibro-group showed significantly lower ESSDAI score (2.8 ± 1.7) and higher ESSPRI score (7.0 ± 0.9) compared to SS-group (ESSDAI: 7.5 ± 3.7 p<0.001 and ESSPRI: 5.2 ± 1.4, p<0.001 respectively). Finally, analyzing the differential distribution of individual scores of physical and psycological domains of the Italian-FIQR Questionnaire, SS/Fibro-group did not differ compared to Fibro-group (p>0.05 for all the 21 questions included).Conclusion:SS is affected by concomitant fibromyalgia in terms of subjective-dependent parameters (i.e. joint complaints) however the concomitant SS does not affect the impact of fibromyalgia on physical and psycological domains, even if disease activity is higher in SS patients without fibromyalgia.References:[1]Shiboski SC et al. Arthritis Care Res, 2012[2]Wolf F. et al. Arthritis Rheum 1990Disclosure of Interests:Annunziata Capacci: None declared, Pietro Rubortone: None declared, Valentina Varriano: None declared, Annamaria Paglionico: None declared, Simone Perniola: None declared, Maria Rita Gigante: None declared, Barbara Tolusso: None declared, Stefano Alivernini: None declared, Elisa Gremese Speakers bureau: Abbvie, BMS, Celgene, Jannsen, Lilly, MSD, Novartis, Pfizer, Sandoz, UCB


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