scholarly journals AB0006 GENETIC RISK PROFILE FOR PSORIATIC ARTHRITIS PREDISPOSITION IN ITALIAN PATIENTS

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1038.1-1038
Author(s):  
M. S. Chimenti ◽  
C. Ciccacci ◽  
G. De Benedittis ◽  
A. Latini ◽  
P. Conigliaro ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Psoriatic Arthritis ◽  
Candidate Genes ◽  
Genetic Risk ◽  
Protective Role ◽  
Risk Profile ◽  
Joint Disease ◽  
Taqman Assay ◽  
Allelic Discrimination ◽  
Risk Alleles

Background:Psoriatic arthritis (PsA) is a chronic inflammatory joint disease typically associated with psoriasis and classified in the group of spondyloarthritis (1). The pathogenesis is based on an interplay of different genes interacting with several environmental factors including stress, trauma, infections, triggering an inflammatory response related to the activation of innate and acquired immunity in different tissues and organs (2). However, the risk for the development of PsA is not clearly understood.Objectives:The aim of this study was to evaluate, in a cohort of Italian PsA out-patients of the Rheumatology Unit of the University of Rome Tor Vergata, the association of genetic variants in candidate genes for PSA susceptibility and their possible contribute in the modulation of clinical and laboratory features.Methods:The genes were selected according to previous studies describing these genes as involved in susceptibility to rheumatoid arthritis (RA) (3), since a common genetic background can be shared between these diseases. Nine SNPs (single nucleotide polymorphism) in eight candidate genes were analysed: STAT4 (rs7574865), TRAF3IP2 (rs33980500), TNFAIP3 (rs6920220 and rs2230926), MIR146A (rs2910164), PSORS1C1 (rs2233945), IL-10 (rs1800872), HCP5 (rs3099844) and ERAP1 (rs27524). Polymorphisms were analysed in 163 consecutive PsA out-patients and 198 healthy controls (HC). Genotyping was performed by allelic discrimination by TaqMan assay. Alleles frequencies differences between cases and controls or between phenotypic groups were compared using Pearson’s χ 2 test.Results:We have observed an association between PSA susceptibility and the variant alleles of STAT4 [OR= 1.60 (1.15-2.21), P= 0.005], TRAF3IP2 [OR= 1.65 (1.01-2.65), P= 0.04], ERAP1 [OR= 1.40 (1.05-1.85), P= 0.02] and TNFAIP3 (rs6920220) [OR= 1.75 (1.19-2.57), P= 0.004]. On the contrary, the variant allele of IL-10 polymorphism seems to play a protective role [OR= 0.74 (1.05-1.85), P= 0.05]. Moreover, in order to define a genetic risk profile, we have counted the total number of risk alleles in each subject, considering as risk alleles the allelic variant of rs7574865 (STAT4), rs33980500 (TRAF3IP2), rs6920220 (TNFAIP3) and rs27524 (ERAP1) SNPs. Then, we have compared the risk allele number distribution between patients and HC (Fig.1). Classes with 3 or more risk alleles are significantly more represented in patients than in HC (OR= 2.03, P=0.004). The risk to develop the disease increases significantly in subjects with at least four risk alleles (OR= 2.96, P=0.002).Figure 1.Number of risk alleles in patients and controls: rs7574865 (STAT4), rs33980500 (TRAF3IP2), rs6920220 (TNFAIP3) and rs27524 (ERAP1) SNPs.Conclusion:We confirm the associations between five SNPs, already studied in RA, and PSA susceptibility, suggesting a common inflammatory pathway in chronic inflammatory rheumatological diseases. Moreover, we show how the genotyping of only few associated SNPs could help to define a genetic risk profile for PSA development.References:[1]Calabresi E, et al. One year in review 2019: psoriatic arthritis. Clin Exp Rheumatol. 2020;38:1046-55.[2]Chimenti MS, Triggianese P, De Martino E, Conigliaro P, Fonti GL, Sunzini F, Caso F, Perricone C, Costa L, Perricone R. An update on pathogenesis of psoriatic arthritis and potential therapeutic targets. Expert Rev Clin Immunol. 2019 Aug;15(8):823-836.[3]Ciccacci C, et al. Polymorphisms in STAT-4, IL-10, PSORS1C1, PTPN2 and MIR146A genes are associated differently with prognostic factors in Italian patients affected by rheumatoid arthritis. Clin Exp Immunol. 2016;186:157-63.Disclosure of Interests:None declared

A polymorphism upstream MIR1279 gene is associated with pericarditis development in Systemic Lupus Erythematosus and contributes to definition of a genetic risk profile for this complication

Lupus ◽  
2016 ◽  
Vol 26 (8) ◽  
pp. 841-848 ◽  
Author(s):  
C Ciccacci ◽  
C Perricone ◽  
C Politi ◽  
S Rufini ◽  
F Ceccarelli ◽  
...  
Keyword(s):  
Lupus Erythematosus ◽  
Genetic Risk ◽  
Risk Profile ◽  
Systemic Lupus ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Profile Model ◽  
Risk Alleles ◽  
Definition Of ◽  
Gene Variability

Recently, a study has shown that a polymorphism in the region of MIR1279 modulates the expression of the TRAF3IP2 gene. Since polymorphisms in the TRAF3IP2 gene have been described in association with systemic lupus erithematosus (SLE) susceptibility and with the development of pericarditis, our aim is to verify if the MIR1279 gene variability could also be involved. The rs1463335 SNP, located upstream MIR1279 gene, was analyzed by allelic discrimination assay in 315 Italian SLE patients and 201 healthy controls. Moreover, the MIR1279 gene was full sequenced in 50 patients. A case/control association study and a genotype/phenotype correlation analysis were performed. We also constructed a pericarditis genetic risk profile for patients with SLE. The full sequencing of the MIR1279 gene in patients with SLE did not reveal any novel or known variation. The variant allele of the rs1463335 SNP was significantly associated with susceptibility to pericarditis ( P = 0.017 and OR = 1.67). A risk profile model for pericarditis considering the risk alleles of MIR1279 and three other genes (STAT4, PTPN2 and TRAF3IP2) showed that patients with 4 or 5 risk alleles have a higher risk of developing pericarditis ( OR = 4.09 with P = 0.001 and OR = 6.04 with P = 0.04 respectively). In conclusion, we describe for the first time the contribution of a MIR1279 SNP in pericarditis development in patients with SLE and a genetic risk profile model that could be useful to identify patients more susceptible to developing pericarditis in SLE. This approach could help to improve the prediction and the management of this complication.

Immuno-biological Assessments of Temporomandibular Joint Disease in Patients with Immune-mediated Rheumatic Conditions. A cross sectional study of 273 cases

2018 ◽  
Vol 68 (12) ◽  
pp. 2987-2991
Author(s):  
Cristina Iordache ◽  
Bogdan Vascu ◽  
Eugen Ancuta ◽  
Rodica Chirieac ◽  
Cristina Pomirleanu ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Psoriatic Arthritis ◽  
Temporomandibular Joint ◽  
Final Analysis ◽  
Cross Sectional Study ◽  
Joint Disease ◽  
Sectional Study ◽  
Cross Sectional ◽  
Immune Parameters ◽  
Immune Mediated

Temporomandibular joint (TMJ) is commonly involved in various immune-mediated rheumatic disorders accounting for significant disability and impaired quality of life. The aim of our study was to assess inflammatory and immune parameters in patients with TMJ arthritis related to rheumatoid arthritis (RA), juvenile idiopathic arthritis (JIA), ankylosing spondylitis (AS) and psoriatic arthritis (PsA) and to identify potential relation with severity and dysfunction of TMJ pathology. We performed a cross-sectional study in a cohort of 433 consecutive RA, 32 JIA, 258 AS, and 103 PsA. Only patients presenting with clinically significant TMJ involvement (273) related to their rheumatic condition were included in the final analysis. TMJ involvement is traditionally described in chronic inflammatory rheumatic disorders, particularly in patients with higher levels of inflammation as detected in rheumatoid arthritis and psoriatic arthritis. Disease activity and severity, as well as biological and positive serological assessments (rheumatoid factor, anti-cyclic citrullinated peptide, IL-1) remain significant determinants of the severity of TMJ arthritis.

scholarly journals Cumulative association of 22 genetic variants with seropositive rheumatoid arthritis risk

2010 ◽  
Vol 69 (6) ◽  
pp. 1077-1085 ◽  
Author(s):  
Elizabeth W Karlson ◽  
Lori B Chibnik ◽  
Peter Kraft ◽  
Jing Cui ◽  
Brendan T Keenan ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Genetic Risk ◽  
Genetic Model ◽  
Genetic Risk Score ◽  
Nucleotide Polymorphisms ◽  
Rheumatoid Arthritis Risk ◽  
Clinical Model ◽  
Risk Alleles ◽  
Cumulative Score ◽  
Weighted Genetic Risk Score

BackgroundRecent discoveries of risk alleles have made it possible to define genetic risk profiles for patients with rheumatoid arthritis (RA). This study examined whether a cumulative score based on 22 validated genetic risk alleles for seropositive RA would identify high-risk, asymptomatic individuals who might benefit from preventive interventions.MethodsEight human leucocyte antigen (HLA) alleles and 14 single-nucleotide polymorphisms representing 13 validated RA risk loci were genotyped among 289 white seropositive cases and 481 controls from the US Nurses' Health Studies (NHS) and 629 white cyclic-citrullinated peptide antibody-positive cases and 623 controls from the Swedish Epidemiologic Investigation of Rheumatoid Arthritis (EIRA). A weighted genetic risk score (GRS) was created, in which the weight for each risk allele is the log of the published odds ratio (OR). Logistic regression was used to study associations with incident RA. Area under the curve (AUC) statistics were compared from a clinical-only model and clinical plus genetic model in each cohort.ResultsPatients with GRS >1.25 SD of the mean had a significantly higher OR of seropositive RA in both NHS (OR=2.9, 95%CI 1.8 to 4.6) and EIRA (OR 3.4, 95% CI 2.3 to 5.0) referent to the population average. In NHS, the AUC for a clinical model was 0.57 and for a clinical plus genetic model was 0.66, and in EIRA was 0.63 and 0.75, respectively.ConclusionThe combination of 22 risk alleles into a weighted GRS significantly stratifies individuals for RA risk beyond clinical risk factors alone. Given the low incidence of RA, the clinical utility of a weighted GRS is limited in the general population.

HELIOTHERAPY IN THE TREATMENT OF PSORIATIC ARTHRITIS

2018 ◽  
Vol 28 (2) ◽  
pp. 483-487
Author(s):  
Snezhina Georgieva ◽  
Dilyana Zvezdova
Keyword(s):  
Psoriatic Arthritis ◽  
Clinical Picture ◽  
Local Therapy ◽  
Severe Form ◽  
Climatic Conditions ◽  
Joint Disease ◽  
Immune Mediated ◽  
Social Comfort ◽  
Pigment Type ◽  
Definition Of

Psoriatic arthritis is an inflammatory joint disease associated with psoriasis vulgaris, with routinely negative rheumatoid factors and the absence of rheumatoid nodules. This is an immune-mediated disease, according to generally accepted definition of Wright and Moll from 1973. American Association against Rheumatism classified psoriatic arthritis as an independent disease in 1964. Psoriatic arthritis is a single disease with a varied clinical picture. It belongs to the group of seronegative spondyloarthropathies with which there are general clinical features. It is believed that similar mechanisms determine the onset of psoriasis and psoriatic arthritis. The clinical picture includes various clinical forms that damage the peripheral and sacroiliac joints, spine, internal organs. The treatment of psoriatic arthritis is directed simultaneously to the influence of skin and joint changes. Purpose: Our study aims to summarize our long-standing experience in the treatment of psoriatic arthritis with heliotherapy. Subject of observation: Monitoring includes 132 patients with moderate and severe form of psoriasis treated at the sanatorium in town of Pomorie for 5 years in the period 2001-2006. Results and discussion: 132 patients with psoriasis with no effect on the local therapy and have proven psoriatic arthritis were selected. In our climatic conditions, heliotherapy is appointed during the warm half-year. Sun treatment was conducted under the conditions of a healing beach, which had shielding, radiation-protective devices. In patients with erythema - pigment and pigment type skin reactivity begins with 1-2 bioadoses reached to 8-10 biodoses, carried out in the area of overcomfort. Conclusion: The studies demonstrated that heliotherapy combined with medications significantly improves the prognosis of patients with this disease. The ultimate success would mean overcoming the frequent depression conditions, better survival and social comfort for patients with psoriatic arthritis.

Treatment with Melittin Induces Apoptosis and Autophagy of Fibroblast-like Synoviocytes in Patients with Rheumatoid Arthritis

2020 ◽  
Vol 21 (8) ◽  
pp. 734-740 ◽  
Author(s):  
Shou-di He ◽  
Ning Tan ◽  
Chen-xia Sun ◽  
Kang-han Liao ◽  
Hui-jun Zhu ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Caspase 3 ◽  
Joint Destruction ◽  
Joint Disease ◽  
Enzyme Linked Immunosorbent Assay ◽  
Caspase 9 ◽  
Inflammatory Processes ◽  
Related Proteins ◽  
Local Stimulation ◽  
Fibroblast Like Synoviocytes

Background: Melittin, the major medicinal component of honeybee venom, exerts antiinflammatory, analgesic, and anti-arthritic effects in patients with Rheumatoid Arthritis (RA). RA is an inflammatory autoimmune joint disease that leads to irreversible joint destruction and functional loss. Fibroblast-Like Synoviocytes (FLS) are dominant, special mesenchymal cells characterized by the structure of the synovial intima, playing a crucial role in both the initiation and progression of RA. Objective: In this study, we evaluated the effects of melittin on the viability and apoptosis of FLS isolated from patients with RA. Methods: Cell viability was determined using CCK-8 assays; apoptosis was evaluated by flow cytometry, and the expression levels of apoptosis-related proteins (caspase-3, caspase-9, BAX, and Bcl-2) were also determined. To explore whether melittin alters inflammatory processes in RA-FLS, IL-1β levels were determined using an enzyme-linked immunosorbent assay (ELISA). Furthermore, we performed GFP-LC3 punctate fluorescence dot assays and western blotting (for LC3, ATG5, p62, and Beclin 1) to assess autophagy in RA-FLS. Results: Our results show that melittin can significantly impair viability, promote apoptosis and autophagy, and inhibit IL-1β secretion in RA-FLS. Conclusion: Melittin may be useful in preventing damage to the joints during accidental local stimulation.

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