Browsing by Author "Alibaz-Oner F."

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    Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study
    (Cell Press, 2021) Ortiz-Fernández L.; Saruhan-Direskeneli G.; Alibaz-Oner F.; Kaymaz-Tahra S.; Coit P.; Kong X.; Kiprianos A.P.; Maughan R.T.; Aydin S.Z.; Aksu K.; Keser G.; Kamali S.; Inanc M.; Springer J.; Akar S.; Onen F.; Akkoc N.; Khalidi N.A.; Koening C.; Karadag O.; Kiraz S.; Forbess L.; Langford C.A.; McAlear C.A.; Ozbalkan Z.; Yavuz S.; Çetin G.Y.; Alpay-Kanitez N.; Chung S.; Ates A.; Karaaslan Y.; McKinnon-Maksimowicz K.; Monach P.A.; Ozer H.T.E.; Seyahi E.; Fresko I.; Cefle A.; Seo P.; Warrington K.J.; Ozturk M.A.; Ytterberg S.R.; Cobankara V.; Onat A.M.; Duzgun N.; Bıcakcıgil M.; Yentür S.P.; Lally L.; Manfredi A.A.; Baldissera E.; Erken E.; Yazici A.; Kısacık B.; Kaşifoğlu T.; Dalkilic E.; Cuthbertson D.; Pagnoux C.; Sreih A.; Reales G.; Wallace C.; Wren J.D.; Cunninghame-Graham D.S.; Vyse T.J.; Sun Y.; Chen H.; Grayson P.C.; Tombetti E.; Jiang L.; Mason J.C.; Merkel P.A.; Direskeneli H.; Sawalha A.H.
    Takayasu arteritis is a rare inflammatory disease of large arteries. We performed a genetic study in Takayasu arteritis comprising 6,670 individuals (1,226 affected individuals) from five different populations. We discovered HLA risk factors and four non-HLA susceptibility loci in VPS8, SVEP1, CFL2, and chr13q21 and reinforced IL12B, PTK2B, and chr21q22 as robust susceptibility loci shared across ancestries. Functional analysis proposed plausible underlying disease mechanisms and pinpointed ETS2 as a potential causal gene for chr21q22 association. We also identified >60 candidate loci with suggestive association (p < 5 × 10−5) and devised a genetic risk score for Takayasu arteritis. Takayasu arteritis was compared to hundreds of other traits, revealing the closest genetic relatedness to inflammatory bowel disease. Epigenetic patterns within risk loci suggest roles for monocytes and B cells in Takayasu arteritis. This work enhances understanding of the genetic basis and pathophysiology of Takayasu arteritis and provides clues for potential new therapeutic targets. © 2020 American Society of Human Genetics
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    The Systemic Score May Identify Life-Threatening Evolution in Still Disease: Data from the GIRRCS AOSD-Study Group and the AIDA Network Still Disease Registry
    (John Wiley and Sons Inc, 2024) Ruscitti P.; Masedu F.; Vitale A.; Caggiano V.; Di Cola I.; Cipriani P.; Valenti M.; Mayrink Giardini H.A.; de Brito Antonelli I.P.; Dagostin M.A.; Lopalco G.; Iannone F.; Maria M.; Almaghlouth I.A.; Asfina K.N.; Ali H.H.; Ciccia F.; Iacono D.; Pantano I.; Mauro D.; Sfikakis P.P.; Tektonidou M.; Laskari K.; Berardicurti O.; Dagna L.; Tomelleri A.; Tufan A.; Can Kardas R.; Hinojosa-Azaola A.; Martín-Nares E.; Kawakami-Campos P.A.; Ragab G.; Hegazy M.T.; Direskeneli H.; Alibaz-Oner F.; Fotis L.; Sfriso P.; Govoni M.; La Torre F.; Cristina Maggio M.; Montecucco C.; De Stefano L.; Bugatti S.; Rossi S.; Makowska J.; Del Giudice E.; Emmi G.; Bartoloni E.; Hernández-Rodríguez J.; Conti G.; Nunzia Olivieri A.; Lo Gullo A.; Simonini G.; Viapiana O.; Wiesik-Szewczyk E.; Erten S.; Carubbi F.; De Paulis A.; Maier A.; Tharwat S.; Costi S.; Iagnocco A.; Sebastiani G.D.; Gidaro A.; Brucato A.L.; Karamanakos A.; Akkoç N.; Caso F.; Costa L.; Prete M.; Perosa F.; Atzeni F.; Guggino G.; Fabiani C.; Frediani B.; Giacomelli R.; Cantarini L.
    Objective: We aimed to evaluate the clinical usefulness of the systemic score in the prediction of life-threatening evolution in Still disease. We also aimed to assess the clinical relevance of each component of the systemic score in predicting life-threatening evolution and to derive patient subsets accordingly. Methods: A multicenter, observational, prospective study was designed including patients included in the Gruppo Italiano Di Ricerca in Reumatologia Clinica e Sperimentale Adult-Onset Still Disease Study Group and the Autoinflammatory Disease Alliance Network Still Disease Registry. Patients were assessed to see if the variables to derive the systemic score were available. The life-threatening evolution was defined as mortality, whatever the clinical course, and/or macrophage activation syndrome, a secondary hemophagocytic lymphohistiocytosis associated with a poor prognosis. Results: A total of 597 patients with Still disease were assessed (mean ± SD age 36.6 ± 17.3 years; male 44.4%). The systemic score, assessed as a continuous variable, significantly predicted the life-threatening evolution (odds ratio [OR] 1.24; 95% confidence interval [CI] 1.07–1.42; P = 0.004). A systemic score ≥7 also significantly predicted the likelihood of a patient experiencing life-threatening evolution (OR 3.36; 95% CI 1.81–6.25; P < 0.001). Assessing the clinical relevance of each component of the systemic score, liver involvement (OR 1.68; 95% CI 1.48–2.67; P = 0.031) and lung disease (OR 2.12; 95% CI 1.14–4.49; P = 0.042) both significantly predicted life-threatening evolution. The clinical characteristics of patients with liver involvement and lung disease were derived, highlighting their relevance in multiorgan disease manifestations. Conclusion: The clinical utility of the systemic score was shown in identifying Still disease at a higher risk of life-threatening evolution in a large cohort. Furthermore, the clinical relevance of liver involvement and lung disease was highlighted. (Figure presented.). © 2024 American College of Rheumatology.
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    Evaluation of Myocarditis in Patients With Still Disease: Clinical Findings From the Multicenter International AIDA Network Still Disease Registry
    (Journal of Rheumatology, 2025) Ruscitti P.; Di Cola I.; Vitale A.; Caggiano V.; Palumbo P.; Di Cesare E.; Torres-Ruiz J.; Guaracha-Basañez G.A.; Martín-Nares E.; Ciccia F.; Iacono D.; Riccio F.; Maggio M.C.; Tharwat S.; Hashad S.; Rigante D.; Ortolan A.; Mayrink Giardini H.A.; de Brito Antonelli I.P.; Cordeiro R.A.; Giacomelli R.; Navarini L.; Berardicurti O.; Conforti A.; Opris-Belinski D.; Sota J.; Gaggiano C.; Lopalco G.; Iannone F.; La Torre F.; Mastrorilli V.; Govoni M.; Ruffilli F.; Emmi G.; Biancalana E.; Sfikakis P.P.; Tektonidou M.; Hernández-Rodríguez J.; Gómez-Caverzaschi V.; Gündüz Ö.S.; Conti G.; Patroniti S.; Gidaro A.; Bartoli A.; Olivieri A.N.; Gicchino M.F.; Brucato A.L.; Dagna L.; Tomelleri A.; Campochiaro C.; De Paulis A.; Mormile I.; Casa F.D.; Direskeneli H.; Alibaz-Oner F.; Karamanakos A.; Dimouli A.; Ragab G.; Ahmed Mahmoud A.A.; Tufan A.; Kucuk H.; Kardas R.; Batu E.D.; Ozen S.; Wiesik-Szewczyk E.; Hinojosa-Azaola A.; Balistreri A.; Fabiani C.; Frediani B.; Cantarini L.
    Objective. We aimed to (1) evaluate the cardiac involvement, with a focus on myocarditis, in patients with Still disease included in the multicenter Autoinflammatory Disease Alliance (AIDA) Network Still disease registry; and (2) assess the predictive factors for myocarditis by deriving a clinical risk patient profile for this severe manifestation. Methods. A multicenter observational study was established, in which consecutive patients with Still disease in the AIDA Network Still disease registry were characterized by cardiac involvement. Cardiac involvement was defined according to the presence of pericarditis, tamponade, myocarditis, and/or aseptic endocarditis. Results. In total, 73 patients with Still disease and cardiac involvement were assessed (mean age 36.3 [SD 19.9] years; male sex, 42.5%), out of which 21.9% were children. The most common cardiac manifestation was pericarditis, occurring in 90.4% of patients; patients also presented with myocarditis (26%), and less frequently endocarditis (2.7%) and tamponade (1.4%). In comparing clinical features of patients with myocarditis to those without, significantly increased frequencies of skin rash and pleuritis, as well as higher systemic scores, were seen. Further, a higher mortality rate was shown in patients with myocarditis. In regression models, skin rash and the systemic score independently predicted the myocarditis. Conclusion. The characteristics of patients with Still disease and cardiac involvement were assessed in the AIDA Network. The most common feature was the pericarditis, but a more severe clinical picture was also reported in patients with myocarditis. The latter was associated with increased mortality rate and higher systemic score, identifying patients who should be carefully managed. © 2025 The Journal of Rheumatology.
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    Impact of HLA-B51 on Uveitis and Retinal Vasculitis: Data from the AIDA International Network Registries on Ocular Inflammatory Disorders
    (Taylor and Francis Ltd., 2025) Sota J.; Guerriero S.; Lopalco G.; Tufan A.; Ragab G.; AlMaglouth I.; Govoni M.; Sfikakis P.P.; Frassi M.; Vitale A.; Kardas R.C.; Triggianese P.; Chimenti M.S.; Aboabat A.A.; Piga M.; Monti S.; Sebastiani G.D.; Yildirim D.; Conforti A.; Gentileschi S.; Dammacco R.; Hinojosa-Azaola A.; Kawakami-Campos P.A.; Ruffilli F.; Torres-Ruiz J.; Thabet M.; Atig A.; Ruscitti P.; Cataldi G.; Viapiana O.; Hatemi G.; Karakoç A.; Costi S.; Iagnocco A.; Crisafulli F.; Fragoulis G.; Del Giudice E.; Hegazy M.T.; Paroli M.P.; Şahin A.; Morrone M.; Iannone F.; Opris-Belinski D.; Asfina K.N.; Barone P.; Gaggiano C.; Kucuk H.; Gicchino M.F.; Carubbi F.; Caggiano V.; Laskari K.; Tharwat S.; Direskeneli H.; Alibaz-Oner F.; Sevik G.; Maier A.; Laymouna A.H.; Emmi G.; Akkoç N.; Tarsia M.; Sbalchiero J.; Conti G.; Spinella R.; La Torre F.; Tombetti E.; Amin R.H.; Mauro A.; Karamanakos A.; Carreño E.; Fonollosa A.; Cattalini M.; Breda L.; de-la-Torre A.; Wiesik-Szewczyk E.; Cifuentes-González C.; Ozen S.; Mazzei M.A.; Tosi G.M.; Frediani B.; Balistreri A.; Batu E.D.; Gupta V.; Cantarini L.; Fabiani C.
    Purpose: The clinical relevance of human leukocyte antigen (HLA) subtypes such as HLA-B51 on Behçet’s disease (BD)-related uveitis and non-infectious uveitis (NIU) unrelated to BD remains largely unknown. Methods: Data were prospectively collected from the International AIDA Network Registry for BD and for NIU. We assessed differences between groups (NIU unrelated to BD and positive for HLA-B51, BD-related uveitis positive for HLA-B51 and BD-related uveitis negative for HLA-B51) in terms of long-term ocular complications, visual acuity (VA) measured by best corrected visual acuity (BCVA), anatomical pattern, occurrence of retinal vasculitis (RV) and macular edema over time. Results: Records of 213 patients (341 eyes) were analyzed. No differences in complications were observed (p = 0.465). With regard to VA, a significant difference was detected in median BCVA (p = 0.046), which was not maintained after Bonferroni correction (p = 0.060). RV was significantly more prevalent in NIU-affected patients who tested positive for HLA-B51, irrespective of the systemic diagnosis of BD (p = 0.025). No differences emerged in the occurrence of macular edema (p = 0.99). Conclusions: Patients with NIU testing positive for HLA-B51 exhibit an increased likelihood of RV throughout disease course, irrespective of a systemic diagnosis of BD. The rate of complications as well as VA are comparable between NIU cases unrelated to BD testing positive for HLA-B51 and uveitis associated with BD. Therefore, it is advisable to perform the HLA-B typing in patients with NIU or retinal vasculitis, even in the absence of typical BD features. © 2024 Taylor & Francis Group, LLC.