IRIS
CUOMO, Giovanna
 Distribuzione geografica
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Continente #
NA - Nord America 4.943
EU - Europa 3.820
AS - Asia 687
Continente sconosciuto - Info sul continente non disponibili 14
AF - Africa 12
SA - Sud America 12
OC - Oceania 1
Totale 9.489
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Nazione #
US - Stati Uniti d'America 4.908
IE - Irlanda 1.257
UA - Ucraina 463
IT - Italia 458
GB - Regno Unito 416
DE - Germania 351
FR - Francia 293
SG - Singapore 285
CN - Cina 250
FI - Finlandia 147
GR - Grecia 121
SE - Svezia 116
TR - Turchia 84
RU - Federazione Russa 83
BE - Belgio 64
CA - Canada 35
KR - Corea 27
NL - Olanda 16
EU - Europa 13
IN - India 12
HK - Hong Kong 7
ES - Italia 6
JP - Giappone 6
CZ - Repubblica Ceca 5
SC - Seychelles 5
AT - Austria 4
IR - Iran 4
AR - Argentina 3
CH - Svizzera 3
DK - Danimarca 3
EC - Ecuador 3
EG - Egitto 3
ID - Indonesia 3
NG - Nigeria 3
PH - Filippine 3
RO - Romania 3
BR - Brasile 2
HU - Ungheria 2
LT - Lituania 2
PE - Perù 2
RS - Serbia 2
TH - Thailandia 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AL - Albania 1
AU - Australia 1
BD - Bangladesh 1
BO - Bolivia 1
BY - Bielorussia 1
HR - Croazia 1
MK - Macedonia 1
MY - Malesia 1
PK - Pakistan 1
PT - Portogallo 1
PY - Paraguay 1
UZ - Uzbekistan 1
ZA - Sudafrica 1
Totale 9.489
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Città #
Dublin 1.250
Santa Clara 854
Jacksonville 728
Chicago 533
Wilmington 496
Chandler 368
Falls Church 339
Singapore 187
Bremen 168
Princeton 164
Roxbury 123
Beijing 120
Ann Arbor 117
Cambridge 97
Medford 81
New York 70
Woodbridge 65
Boardman 62
Brussels 61
Des Moines 52
Ufa 48
San Mateo 46
Caserta 44
Naples 35
Napoli 31
Mountain View 29
Munich 26
Helsinki 22
Nanjing 21
Seoul 20
Norwalk 17
Ashburn 16
Torre del Greco 16
Ottawa 15
Jinan 13
Milan 13
Pozzuoli 12
Auburn Hills 10
Düsseldorf 10
Redwood City 10
Seattle 10
Mcallen 9
Lappeenranta 8
Los Angeles 8
Fiano Romano 7
Houston 7
Nanchang 7
Rome 7
Saint Petersburg 7
Amsterdam 6
Frankfurt am Main 6
Guangzhou 6
Lanzhou 6
Montréal 6
Ningbo 6
Orange 6
Paris 6
Perugia 6
Haikou 5
Hong Kong 5
Taranto 5
Toronto 5
Cedar Knolls 4
Groningen 4
Gunzenhausen 4
Hebei 4
Heudeber 4
Kolomyia 4
Kunming 4
Massa 4
Nuremberg 4
Selargius 4
Shanghai 4
Shenyang 4
Atlanta 3
Baotou 3
Berlin 3
Brno 3
Clifton 3
Fucecchio 3
Giugliano in Campania 3
Hangzhou 3
Hanover 3
Hefei 3
Lecce 3
Madrid 3
Monteveglio 3
Monza 3
Nijmegen 3
Piscataway 3
Quezon City 3
Quito 3
Sacramento 3
Salerno 3
San Giorgio A Cremano 3
Sesto Fiorentino 3
Siena 3
Skanderborg 3
Surabaya 3
Taizhou 3
Totale 6.659
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Nome #
Tocilizumab reduces complement C3 and C4 serum levels in rheumatoid arthritis patients. 1.330
Demographic, clinical and antibody characteristics of patients with digital ulcers in systemic sclerosis: data from the DUO Registry. 119
A PILOT STUDY ON LOW-DOSE INTRAVENOUS CICLOPHOSPHAMIDE IN SYSTEMIC SCLEROSIS: EFFICACY, SAFETY AND EFFECTS ON CELLULAR ACTIVATION MARKERS 109
Bioelectrical impedance analysisfor the assessment of body composition in patients with systemic sclerosis 94
Early Systemic Sclerosis: Marker Autoantibody Positive Patients Have A Faster Pace Of The Disease. 85
Clinical and subclinical atherosclerosis in systemic sclerosis: consequences of previous corticosteroid treatment. 83
[HAQ-DI Italian version in systemic sclerosis]. 81
Early systemic sclerosis: Analysis of the disease course in patients with marker autoantibody or capillaroscopic positivity or both. 80
Peripheral blood T lymphocytes from systemic sclerosis patients show both Th1 and Th2 activation 77
CLINICAL AND SUBCLINICAL ATHEROSCLEROSIS IN SYSTEMIC SCLEROSIS (SSC) PATIENTS 75
A regulatory variant in CCR6 is associated with susceptibility to antitopoisomerase-positive systemic sclerosis. 71
-238 and +489 TNF-alpha along with TNF-RII gene polymorphisms associate with the diffuse phenotype in patients with Systemic Sclerosis 71
IRF8 Gene Contributes to Disease Susceptibility and Interacts with NF-KB By Modulating Interferon Signature in Patients with Systemic Sclerosis 69
Sub-Analysis of ELF Score Biomarkers Components Indicates a Specific Correlation with Different Organ Involvement in Systemic Sclerosis. 68
Alterazioni del sistema nervoso autonomo nella Sclerosi Sistemica (SSc). Risultati preliminari di uno studio sul rapporto con la severita della malattia 67
Early systemic sclerosis: marker autoantibodies and videocapillaroscopy patterns are each associated with distinct clinical, functional and cellular activation markers. 66
Association of a functional polymorphism in the matrix metalloproteinase-12 promoter region with systemic sclerosis in an Italian population 64
Tissue Doppler imaging in systemic sclerosis: A 3-year longitudinal study. 63
Assessment of intestinal permeability and orocecal transit time in patients with systemic sclerosis 63
[THU0309] CLINICAL MANIFESTATIONS IN LATE VS EARLY –ONSET SYSTEMIC SCLEROSIS (SSC) G. Cuomo, M. Iudici, G. Abignano, G. Valentini. Second Universty of Naples, Rheumatology Unit, Naples, Italy Background: Differences have been so far pointed out in the clinical manifestations and disease course in patients with a number of autoimmune rheumatic diseases and different age at onset (1-3). Objectives: To investigate the occurrence of differences between early and late onset SSc. Methods: 260 SSc patients (233 females) with a median age at the onset of the disease of 40.5 years (range 8-74) were consecutively admitted to a tertiary centre from November 1st 2000 to October 31st 2008. They were divided into 2 groups: early onset (<40.5 years) and late onset (≥40.5 years). Differences in each of the epidemiological, clinical and serological aspects collected in all the patients at admission were analysed. Results: Table 1 lists the significant differences detected between the 2 groups. Early onset patients were found to have a longer disease duration at presentation, a higher prevalence of anti-Scl70 positivity and a higher prevalence of scleroderma renal crisis; a lower prevalence of antinucleolar antibody positivity; a lower percentage of pulmonary hypertension; a lower HAQ-DI and a lower prevalence of heart involvement. No difference was detected in clinical subset distribution. Late onset (138) Early onset (122) p Disease duration mean (sd) 6 (6) 10 (10) 0.003 Range (median) 0.5-26 (5) 0.5-45 (6) Serological subset Scl70 43 54 0.04 Nucleolar 9 23 0.004 PAPs ≥40mmHG (echocardiography) 14/124 3/119 0.01 HAQ-DI mean (sd) 0.65 (0.7) 0.5 (0.7) 0.037 Range (median) 0-0.275 (0.375) 0-0.25 (0.125) Severity scale Late onset (138) Early onset(122) p 0-1 2-3-4 0-1 2-3-4 Heart 117 21 121 1 <0.0001 Kidney 138 0 117 5 0.02 Conclusion: Our study demonstrate that similarly to systemic lupus erithematosus and rheumatoid arthritis, distinct differences related to age at onset also occur in SSc patients. References: • Calvo-Alen J. et al, Clin Rheumatol 2005 • Lalani S. et al, J Rheumatol 2010 • Ho CT et al, Ann Rheum 1998 Disclosure of Interest: None declared Citation: Ann Rheum Dis 2010;69(Suppl3):247 Session: Scleroderma, Myositis and related syndromes 63
The Italian MSUS Study Group recommendations for the format and content of the report and documentation in musculoskeletal ultrasonography in rheumatology 62
ATHEROSCLEROSIS AND RHEUMATOID ARTHRITIS: EVALUATION OF INTIMA-MEDIA THICKNESS AND CORRELATION WITH INFLAMMATORY AND ATHEROGENIC MARKERS 62
ELF Score: A Validated Serum Test Strongly Predictive of Fibrosis in Systemic Sclerosis. 62
RELATIONSHIP OF THE 6-MIN WALKING TEST AND QUALITY OF LIFE 62
Assessment of hand involvement in systemic sclerosis by ultrasonography: comment on the article by Elhai et al. 62
Value of systolic pulmonary arterial pressure as a prognostic factor of death in the systemic sclerosis EUSTAR population. 61
Comparison of Timing to Develop Anti-Drug Antibodies to Infliximab and Adalimumab Between Adult and Pediatric Age Groups, Males and Females 61
Systemic sclerosis: demographic, clinical, and serologic features and survival in 1,012 Italian patients 60
Systemic sclerosis could mask the presentation of psoriasis in a patient with symptomatic and bilateral sacroiliitis 60
Joint and Tendon Involvement Predict Severe Disease Progression in Systemic Sclerosis: A Prospective Study 60
Diffusion and applications of musculoskeletal ultrasound in Italian Rheumatology Units. 59
Early systemic sclerosis: assessment of clinical and pre-clinical organ involvement in patients with different disease features 59
Cell-free DNA in the plasma of patients with systemic sclerosis 58
[A comparison between the Simplified Disease Activity Index (SDAI) and the Disease Activity Score (DAS28) as measure of response to treatment in patients undergoing different therapeutic regimens]. 58
TGFβ receptor gene variants in systemic sclerosis-related pulmonary arterial hypertension: results from a multicentre EUSTAR study of European Caucasian patients. 58
Impaired exercise performance in systemic sclerosis and its clinical correlations 58
[Survival and death causes in 251 systemic sclerosis patients from a single Italian center]. 58
ACE inhibitors in SSc patients display a risk factor for scleroderma renal crisis-a EUSTAR analysis. 58
Prevalence and factors associated with glucocorticoids (GC) use in systemic sclerosis (SSc): a systematic review and meta-analysis of cohort studies and registries 57
Low-dose pulse cyclophosphamide in interstitial lung disease associated with systemic sclerosis (SSc-ILD): Efficacy of maintenance immunosuppression in responders and non-responders. 57
VALIDATION OF THE SIMPLIFIED DISEASE ACTIVITY INDEX (SDAI) AND DAS28 AS MEASURE OF RESPONSE TO TREATMENT IN PATIENTS UNDERGOING DIFFERENT THERAPEUTIC REGIMENS 57
Glucocorticoids in systemic sclerosis: patients' beliefs and treatment adherence. 56
A candidate gene study identifies a haplotype of CD2 as novel susceptibility factor for systemic sclerosis 55
Early Systemic Sclerosis: Serum Profiling of Factors Involved in Endothelial, T-cell, and Fibroblast Interplay is Marked by Elevated Interleukin-33 Levels. 55
[FRI0313] CYCLOPHOSPHAMIDE PULSE THERAPY IN THE TREATMENT OF SYSTEMIC SCLEROSIS-INTERSTITIAL LUNG DISEASE G. Abignano, M. Iudici, A. Petrillo, G. Cuomo, G. Valentini. Rheumatology Unit, Second University of Naples, Napoli, Italy Background: Cyclophosphamide (CYC) is currently used in the treatment of interstitial lung disease (ILD) in patients with systemic sclerosis (SSc). A recent meta-analysis1 (Nannini C et al), pooling data from studies based on different entry criteria, questions its usefulness. Objectives: To investigate the effectiveness of low dose pulse CYC (500 mg/dose) in the treatment of recently deteriorating SSc-ILD. Methods: 51 patients with SSc-ILD, all of them satisfying ACR criteria for the classification of the disease and presenting with a recent (<6 months) decrease (≥10% of the predictive value) of either Forced Vital Capacity (FVC) or Diffusing Lung Capacity for CO (DLCO), were enrolled in the study. All of them underwent a concurrent prednisone therapy (10 mg/daily). CYC was administered i.v. at a dose of 500 mg weekly. Total CYC dose ranged from 4.5 to 11.5 g (median 7.5). An increase of 10% in either FVC or DLCO was considered indicative of improvement; a change between <10% and >10% of stable disease; a decrease ≥10% of worsening. Results: 22 out of the 51 SSc patients (43.14%) resulted to improve at the end of the CYC course; 17 (33.33%) remained stable; 12 (23.53%) worsened. No patients withdrew CYC treatment because of side effects. Conclusion: Our study suggests that the effectiveness of CYC in SSc-ILD may depend on entry criteria. Actually about 76% of patients who had experienced a recent deterioration of lung function, suggesting active alveolitis, underwent improvement or stabilization of their disease in our study. References:[ol][li]Nannini C, West CP, Erwin PJ, Matteson EL. Effects of cyclophosphamide on pulmonary function in patients with scleroderma and interstitial lung disease: a systematic review and meta-analysis of randomized controlled trials and observational prospective cohort studies. Arthritis Res Ther 2008, 10:R124.[/li][/ol]Disclosure of Interest: None declared Ann Rheum Dis 2009;68(Suppl3):460 Session: Scleroderma, myositis and related syndromes 55
Twelve-month azathioprine as maintenance therapy in early diffuse systemic sclerosis patients treated for 1-year with low dose cyclophosphamide pulse therapy 54
Quality of life as measured by the short-form 36 (SF-36) questionnaire in patients with early systemic sclerosis and undifferentiated connective tissue disease. 54
European Scleroderma Study Group (ESCSG) Activity Index is correlated to quality of life measures both at admission and overtime 54
Brief report: Successful pregnancies but a higher risk of preterm births in systemic sclerosis: An Italian multicentric study. 54
COVID-19 and arrhythmia: The factors associated and the role of myocardial electrical impulse propagation. An observational study based on cardiac telemetric monitoring 53
[SAT0516] MEGACAPILLARIES AS DETECTED BY NAILFOLD VIDEOCAPILLAROSCOPY IN A COHORT OF PATIENTS WITH ACROCYANOSIS R. Irace, G. Cuomo, L. Pirro, G. Valentini. Department of Internal Medicine “F. Magrassi- A. Lanzara”, Rheumatology Section, Naples, Italy Background: Patients with acrocyanosis are known to display a capillaroscopic pattern characterised by normal/mild reduction of capillary density, microhemorrhages, asymmetrical capillary ectasias with greater width of venular loop and capillary thrombosis (1). At the best of our knowledge, one small series study only as so far reported the occurrence of megacapillaries (i.e. giant capillary: homogeneously enlarged loops with a diameter >50µm) in patients with acrocyanosis (2). Objectives: To investigate the presence of megacapillaries in a cohort of patients with acrocyanosis Methods: We enrolled 71 consecutive patients attending the Videocapillaroscopy Outpatient clinicof the Second University of Naples from 1st January 2011 to 1st June 2012 (median age 45 years, range 18-70) diagnosed to have acrocyanosis (i.e. persistent, symmetrical and painful cyanosis of extremities, triggered by cold, often associated to hyperhidrosis) and 35 control patients affected by osteoarthritis. Nailfold videocapillaroscopy was carried out with optical probes of 200X (VideoCap 2.5). Results: Megacapillaries (maximal loop width 80 µm) were detected in 14 out of 71 patients (19%). In 12 and 2 patients a mean score of 1 (less than 4 megacapillaries / mm) and of 2 (≥4 megacapillaries ≤ 6 / mm) was registered, respectively. In all patients the capillaroscopic alterations already described in patients with acrocyanosis were found : mild reduction of capillary density (mean capillary number 7±1/mm), asymmetrical capillary ectasias with greater width of venular loop, microhemorrhages, capillary thrombosis. In controls rare ectasias were the only capillaroscopic alterations detected. Conclusions: Our study confirms the possible occurrence of megacapillaries in a larger cohort of patients with acrocyanosis. It suggests the need of a careful clinical approach in order to make differential diagnosis between acrocyanosis and Raynaud's Phenomenon. The patients enrolled will be prospectically followed-up to assess the changes of capillaroscopic scores overtime. References: Kurklinsky et al. Vasc Med 2011 16(4):288-301 Monticone et a J Am Acad Dermatol 2000; 42:787-90 Davis E. Adv Microcirc 1982 ;10:101-119 Disclosure of Interest: None Declared Citation: Ann Rheum Dis 2013;72(Suppl3):756 Session: Diagnostics and imaging procedures 53
Uncommon immune-mediated extrahepatic manifestations of HCV infection 53
Choosing the most appropriate biologic therapy for Crohn's disease according to concomitant extra-intestinal manifestations, comorbidities, or physiologic conditions 53
Autonomic nervous system dysfunction correlates with microvascular damage in systemic sclerosis patients 53
[Hypocomplementemia in systemic sclerosis]. 52
Clinical correlates of a subset of anti-CENP-A antibodies cross-reacting with FOXE3p53-62 in systemic sclerosis. 51
CARDIAC BLOCKS IN SYSTEMIC SCLEROSIS: PREVALENCE AND ASSOCIATED FEATURES IN THE EUSTAR COHORT 51
COGNITIVE DYSFUNCTION IN PATIENTS WITH SYSTEMIC SCLEROSIS 50
COVID-19 in rheumatic diseases in Italy: first results from the Italian registry of the Italian Society for Rheumatology (CONTROL-19) 50
ARTICULAR INVOLVEMENT IN SYSTEMIC SCLEROSIS (SSC). ULTRASONOGRAPHIC FEATURES OF HAND JOINTS 49
18. Imapired excerise performance in systemic sclerosis. Clinical correlations 49
Cardiac autonomic dysfunction precedes the development of fibrosis in patients with systemic sclerosis 48
[Atherosclerosis and rheumatoid arthritis: relationships between intima-media thickness of the common carotid arteries and disease activity and disability]. 48
INTEGRIN ALPHA2BBETA3 GENE POLYMORPHISM AND THE MICROVASCULAR SYSTEM IN SCLERODERMA 48
LOW - DOSE CYCLOPHOSPHAMIDE PULSES IN SYSTEMIC SCLEROSIS - A PRELIMINARY EFFICACY STUDY 48
AUTOANTIBODIES AND CLINICAL FEATURES CAN PREDICT EVOLUTION IN PATIENTS WITH MIXED CONNECTIVE TISSUE DISEASE (MCTD) 48
Non-invasive respiratory support in SARS-CoV-2 related acute respiratory distress syndrome: when is it most appropriate to start treatment? 47
A genetic variation located in the promoter region of the UPAR (CD87) gene is associated with the vascular complications of systemic sclerosis 47
CORRELATIONS BETWEEN NEUTROPHIL/LYMPHOCYTE RATIO AND CLINICAL CHARACTERISTICS OF PATIENTS WITH SYSTEMIC SCLEROSIS 47
[FRI0311] CORRELATIONS BETWEEN CLINICAL FEATURES OF154 PATIENTS WITH SYSTEMIC SCLEROSIS (SSC) AND SHORT FORM36 (SF36) SCORES G. Cuomo, M. Iudici, G. Abignano, A. Petrillo, G. Valentini. Rheumatology Unit, Second University of Naples, Naples, Italy Background: The quality of life is reduced in patients with systemic sclerosis (SSc) as evaluated by both disease specific (HAQ-DI; SHAQ) or generic questionnaires. The correlations between SF-36 scores and some disease features have not yet been explored. Objectives: To evaluate the relationships between health values as evaluated by SF-36 and clinical features in SSc patients. Methods: From 9/01/07 to 8/31/08 154 consecutive SSc patients (144 females; 10 males); aged from 20–82 years (median age 54), with disease duration from 1-47 years (median 10,5 years); attending the outpatient clinic of the Rheumatology Unit of Second University of Naples, were enrolled in the study. The scores of the eight areas of SF-36 General Health: Physical Function (PF), Role Physical (RP), Bodily Pain (BP), General Health (GH), Vitality (VT), Social function (SF), Role Emotional (RE) and Mental Health (MH), were evaluated in the range of 0–100, the higher values reflecting a better Quality of life (Qol). In addition two global series i.e. the Physical Component Summary Score (PCS) and the Mental Component Summary Score (MCS) were calculated. The patients were also investigated for disease subset (limited or diffuse); skin involvement by the modified Rodnan skin score; disability by HAQ-DI; disease activity by European Activity Index, and disease severity by Medsger severity scale. Results: SF36 score did not differ between the 31 patients with diffuse vs the 123 with limited disease All the items of SF36 were significantly correlated to activity Index (Rho from –0.28 to -0.32: p<0.0001) and HAQ-DI (Rho from -0.38 to -0.82: p<0.0001). GH resulted to correlate with mRss (Rho -0.17; p<0.05) The significant correlations between each item of the Medsger's severity scale and each item of SF36 are reported in table. PF RP BP GH VT SF RE MH PCS/MCS Sev_Gen (Rho) – – – – – – – – –/– Sev_Vasc(Rho) – – – – – – – – –/– Sev_Skin (Rho) – – – – – – – – –/– Sev_Joint (Rho) – – – -0.18* – – – – -0.21**/– Sev_muscle (Rho) -0.25** – – -0.16* -0.18* -0.22* – -0.20* -0.20*/– Sev_GI (Rho) -0.20* – – -0.22** – – – – –/– Sev_lung (Rho) -0.28*** – – -0.23** -0.17* -0.23** -0.22** – -0.19*/– Sev_Heart (Rho) – – -0.22* – – – – – -0.21*/– Sev_kidney (Rho) – – – – – – – – – *p<0.05; **p<0.001; ***p<0.0001. Conclusion: The present study, confirms that the Health Value, as evaluated by SF36, is diminished in SSc. Our study point out a previously univestigated correlation between SF-36 scores and disease activity. Disclosure of Interest: NONE declared Ann Rheum Dis 2009;68(Suppl3):459 Session: Scleroderma, myositis and related syndromes 47
CROSS-SECTIONAL EVALUATION OF CHEMOKINE PROFILE IN EARLY AND DEFINITE SYSTEMIC SCLEROSIS 47
Clinical application of lung ultrasound score on COVID-19 setting: a regional experience in Southern Italy 47
Evidence for the contribution of the X chromosome to Systemic Sclerosis susceptibility: Association with the functional IRAK1 196Phe/532Ser haplotype 46
Low-dose intravenous cyclophosphamide in systemic sclerosis: a preliminary safety study 46
A SCLERODERMA PATIENT WITH SWOLLEN AND TENDER JOINTS OF BOTH HANDS 46
Interstitial lung disease in systemic sclerosis: a longitudinal study on a south italian series. 46
[SAT0013] CANDIDATE GENE STUDY IN SYSTEMIC SCLEROSIS IDENTIFIES A RARE AND FUNCTIONAL VARIANT OF TNFAIP3 LOCUS AS A RISK FACTOR FOR INDIVIDUAL POLYAUTOIMMUNITY E. Koumakis1,2, M. Giraud2, P. Dieudé3, G. Cuomo4, P. Airo5, G. Chiocchia2, Y. Allanore1,2, and GENESYS Consortium. 1Paris Descartes University, Rheumatology A Department, Cochin Hospital; 2INSERM U1016, Institut Cochin, Sorbonne Paris Cité; 3Paris Diderot university, Rheumatology Department, Hôpital Bichat-Claude-Bernard, Paris, France; 4Rheumatology Section, Department of Clinical and Experimental Medicine, Second University of Naples, Naples; 5Rheumatology and Clinical Immunology, Spedali Civili, Brescia, Italy Background: Systemic lupus erythematosus (SLE) and systemic sclerosis (SSc) share some physiopathologic bases as supported by individual and familial polyautoimmunity and common susceptibility genetic factors. For the latter, there is a recent shift from the "common variant" to the "rare variant" paradigm, inasmuch as rare variants of TNFAIP3 and TREX1 with large effect size have recently been uncovered in SLE. Objectives: To investigate whether rare variants of TREX1 and TNFAIP3 are associated with SSc. Methods: TREX1 lupus-associated single-nucleotide polymorphisms (SNPs) rs3135946, rs7626978, rs3135943, rs11797 and TNFAIP3 rs9494883, rs72063345, rs5029939, rs2230926, rs117480515, rs7749323, together with the functional TT>-A dinucleotide variant located 41.5kb downstream of the TNFAIP3 promoter (1), were genotyped in a French "discovery" set consisting of 985 SSc and 1011 controls. The most relevant results were replicated in a second set consisting of Italian individuals (622 SSc and 493 controls). Expression of TNFAIP3 mRNA by peripheral blood mononuclear cells was assessed by quantitative real-time PCR using Taqman methodology in 38 SSc patients and 33 unaffected French donors genotyped for TNFAIP3 variants. Results: No association between any TREX1 variant and SSc or sub-phenotypes was observed. For TNFAIP3, we first observed that a low-frequency variant, rs117480515, tagged the TT>-A SLE dinucleotide polymorphism recently identified and that is highly suspected to be the causal variant (1). In the discovery sample, we observed that all tested TNFAIP3 variants were in linkage disequilibrium and were associated with SSc and various subsets including the polyautoimmune phenotype (i.e. SSc patients having at least one co-existing autoimmune disease, N=150, Padj=5.32×10-5, OR=3.94, [95%CI 2.25-6.90]). The rs117480515 SNP was subsequently genotyped in the replication sample. The allelic association with SSc was replicated solely for patients with the polyautoimmune phenotype, providing the following results in the combined French and Italian populations: Padj=8.58×10-9, OR=3.51, [95%CI 2.28-5.41]. Genotype-mRNA expression correlations revealed that the TNFAIP3 rs117480515 risk allele was associated with decreased TNFAIP3 mRNA expression (p=0.02). Conclusions: Our results establish the TNFAIP3 locus as susceptibility factor for the subset of SSc patients with a polyautoimmune phenotype and highlight the critical role of NFkB antagonist A20 in shared autoimmunity. It also supports the implication of rare/low-frequency functional variants in the genetic susceptibility to complex autoimmune diseases. The lack of association with the TREX1 locus in this study strengthens the knowledge that while some genetic loci may confer susceptibility to several autoimmune phenotypes, other genes may be restricted to specific diseases. References: Adrianto I et al. Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus. Nat Genet 2011;43:253-8. Disclosure of Interest: None Declared Citation: Ann Rheum Dis 2012;71(Suppl3):475 Session: Genomics, genetics and epigenetics of rheumatic diseases 46
Remdesivir plus dexamethasone versus dexamethasone alone for the treatment of COVID-19 patients requiring supplemental O2 therapy: a prospective controlled non-randomized study 46
Stress doppler echocardiography in systemic sclerosis: evidence for a role in the prediction of pulmonary hypertension 45
"To be or not to be," ten years after: evidence for mixed connective tissue disease as a distinct entity. 45
Autoantibodies Recognizing the Amino Terminal 1-17 Segment of CENP-A Display Unique Specificities in Systemic Sclerosis. 45
Prediction of SARS-CoV-2-Related Lung Inflammation Spreading by V:ERITAS (Vanvitelli Early Recognition of Inflamed Thoracic Areas Spreading) 45
Systemic sclerosis evolution of disease pathomorphosis and survival. Our experience on Italian patients' population and review of the literature. 44
Prediction of improvement in skin fibrosis in diffuse cutaneous systemic sclerosis: A EUSTAR analysis 44
Corrigendum: Resolvin D1 Modulates the Intracellular VEGF-Related miRNAs of Retinal Photoreceptors Challenged With High Glucose (Frontiers in Pharmacology, (2020), 11, 10.3389/fphar.2020.00235) 44
Predictors of in-hospital mortality of COVID-19 patients and the role of telemetry in an internal medicine ward during the third phase of the pandemic 44
Echocardiographic alterations in systemic sclerosis: a longitudinal study. 43
The Concept of Early Systemic Sclerosis Following 2013 ACR\EULAR Criteria for the Classification of Systemic Sclerosis. 43
Evidence of the intracellular cytokines in pheripheral blood mononuclear cells of patients with systemic sclerosis 43
SAT0181 CXCL4 Is Not A Biomarker in Rheumatoid Arthritis Patients Treated with Abatacept and Tocilizumab 43
Joint and tendon involvement predict disease progression in systemic sclerosis: A EUSTAR prospective study 43
A comparison between nailfold capillaroscopy patterns in adulthood in juvenile and adult-onset systemic sclerosis: A EUSTAR exploratory study 43
Apolipoprotein A-I-dependent cholesterol esterification in patients with rheumatoid arthritis. 42
Ultrasonographic features of the hand and wrist in systemic sclerosis 42
Sclerosi sistemica 42
Tailoring biologic therapy for real-world rheumatoid arthritis patients 42
Peripheral Blood Mononuclear Cells Co-Cultured With Autologous Skin Fibroblasts Up-Regulate IL-17A and Play Anti-Fibrotic Effects In Systemic Sclerosis. 41
Pulmonary hypertension in systemic sclerosis: relationship to other findings of lung involvement 41
Incidence and predictors of cutaneous manifestations during the early course of systemic sclerosis: a 10-year longitudinal study from the EUSTAR database 41
Longitudinal analysis of quality of life in patients with undifferentiated connective tissue diseases 41
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Categoria #
all - tutte 42.503
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
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patent - brevetti 0
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Totale 42.503
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020533 0 0 0 0 0 35 180 92 95 67 54 10
2020/2021982 57 10 125 30 144 10 160 144 27 105 136 34
2021/20221.894 131 133 267 130 451 38 57 41 60 70 133 383
2022/20232.596 287 249 349 91 233 143 22 68 1.054 9 53 38
2023/2024981 71 48 40 93 337 90 21 18 9 21 66 167
2024/20251.173 17 39 28 50 550 489 0 0 0 0 0 0
Totale 9.894