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  • 1
    In: Scientific Reports, Springer Science and Business Media LLC, Vol. 7, No. 1 ( 2017-04-05)
    Abstract: Scientific Reports 7: Article number: 43953; published online: 09 March 2017; updated: 05 April 2017 In this Article, Javier Martin is incorrectly listed as being affiliated with “Departamento de Genética e Instituto de Biotecnología, Universidad de Granada, Granada 18016, Spain”. The correct affiliation is listed below:
    Type of Medium: Online Resource
    ISSN: 2045-2322
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2017
    detail.hit.zdb_id: 2615211-3
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  • 2
    In: Scientific Reports, Springer Science and Business Media LLC, Vol. 7, No. 1 ( 2017-03-09)
    Abstract: Giant cell arteritis (GCA) and Takayasu’s arteritis (TAK) are major forms of large-vessel vasculitis (LVV) that share clinical features. To evaluate their genetic similarities, we analysed Immunochip genotyping data from 1,434 LVV patients and 3,814 unaffected controls. Genetic pleiotropy was also estimated. The HLA region harboured the main disease-specific associations. GCA was mostly associated with class II genes ( HLA-DRB1 / HLA-DQA1 ) whereas TAK was mostly associated with class I genes (HLA-B/MICA). Both the statistical significance and effect size of the HLA signals were considerably reduced in the cross-disease meta-analysis in comparison with the analysis of GCA and TAK separately. Consequently, no significant genetic correlation between these two diseases was observed when HLA variants were tested. Outside the HLA region, only one polymorphism located nearby the IL12B gene surpassed the study-wide significance threshold in the meta-analysis of the discovery datasets (rs755374, P = 7.54E-07; OR GCA  = 1.19, OR TAK  = 1.50). This marker was confirmed as novel GCA risk factor using four additional cohorts (P GCA  = 5.52E-04, OR GCA  = 1.16). Taken together, our results provide evidence of strong genetic differences between GCA and TAK in the HLA. Outside this region, common susceptibility factors were suggested, especially within the IL12B locus .
    Type of Medium: Online Resource
    ISSN: 2045-2322
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2017
    detail.hit.zdb_id: 2615211-3
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  • 3
    In: The American Journal of Human Genetics, Elsevier BV, Vol. 108, No. 1 ( 2021-01), p. 84-99
    Type of Medium: Online Resource
    ISSN: 0002-9297
    RVK:
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2021
    detail.hit.zdb_id: 1473813-2
    SSG: 12
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  • 4
    In: Arthritis & Rheumatology, Wiley, Vol. 67, No. 5 ( 2015-05), p. 1361-1368
    Abstract: Takayasu arteritis is a rare large vessel vasculitis with incompletely understood etiology. This study was undertaken to perform the first unbiased genome‐wide association analysis of Takayasu arteritis. Methods Two independent cohorts of patients with Takayasu arteritis from Turkey and North America were included in our study. The Turkish cohort consisted of 559 patients and 489 controls, and the North American cohort consisted of 134 patients and 1,047 controls of European ancestry. Genotyping was performed using the Omni1‐Quad and Omni2.5 genotyping arrays. Genotyping data were subjected to rigorous quality control measures and subsequently analyzed to discover genetic susceptibility loci for Takayasu arteritis. Results We identified genetic susceptibility loci for Takayasu arteritis with a genome‐wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10 −9 ), RPS9 / LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10 −8 ), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10 −10 ). The genetic susceptibility locus in RPS9 / LILRB3 lies within the leukocyte receptor complex gene cluster on chromosome 19q13.4, and the disease risk variant in this locus correlates with reduced expression of multiple genes including the inhibitory leukocyte immunoglobulin‐like receptor gene LILRB3 ( P = 2.29 × 10 −8 ). In addition, we identified candidate susceptibility genes with suggestive levels of association ( P 〈 1 × 10 −5 ) with Takayasu arteritis, including PCSK5, LILRA3, PPM1G/NRBP1 , and PTK2B . Conclusion Our findings indicate novel genetic susceptibility loci for Takayasu arteritis and uncover potentially important aspects of the pathophysiology of this form of vasculitis.
    Type of Medium: Online Resource
    ISSN: 2326-5191 , 2326-5205
    URL: Issue
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    Language: English
    Publisher: Wiley
    Publication Date: 2015
    detail.hit.zdb_id: 2754614-7
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  • 5
    In: Annals of the Rheumatic Diseases, BMJ, Vol. 75, No. Suppl 2 ( 2016-06), p. 1160.2-1160
    Type of Medium: Online Resource
    ISSN: 0003-4967 , 1468-2060
    RVK:
    Language: English
    Publisher: BMJ
    Publication Date: 2016
    detail.hit.zdb_id: 1481557-6
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  • 6
    In: British Journal of Dermatology, Oxford University Press (OUP), Vol. 184, No. 6 ( 2021-06), p. 1202-1203
    Type of Medium: Online Resource
    ISSN: 0007-0963 , 1365-2133
    URL: Issue
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2021
    detail.hit.zdb_id: 2004086-6
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  • 7
    In: Annals of the Rheumatic Diseases, BMJ, Vol. 75, No. Suppl 2 ( 2016-06), p. 610.4-611
    Type of Medium: Online Resource
    ISSN: 0003-4967 , 1468-2060
    RVK:
    Language: English
    Publisher: BMJ
    Publication Date: 2016
    detail.hit.zdb_id: 1481557-6
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  • 8
    In: Annals of the Rheumatic Diseases, BMJ, Vol. 81, No. Suppl 1 ( 2022-06), p. 1338.1-1338
    Abstract: Combination of MTX with a bDMARDs or tsDMARDs is considered the most effective treatment regimen currently available for patients with RA who have failed to respond to conventional DMARDs. However, approximately 30% of patients receive bDMARDs as monotherapy in daily clinical practice. Studies in the literature do not assess unintentional monotherapy in general. However, it is thought that some patients may switch to monotherapy unintentionally. In other words, some patients who are prescribed combination therapy switch to monotherapy without informing their physicians. Objectives To determine the rate of unintentional monotherapy in rheumatoid arthritis (RA) patients receiving tofacitinib and to evaluate tofacitinib survival rate. Methods This national, multicentre, retrospective study included patients’ data from the TURKBIO Registry. Data on demographics, clinical characteristics, disease duration and activity, comorbidities, and treatment were analysed. Results Data of 231 RA patients (84.8% female, median age, 56 years) were included; 153 were initially prescribed combination therapy and continued to their therapies; 31 were initially prescribed combination therapy but switched to monotherapy of their own will (unintentional monotherapy); 21 were initially prescribed monotherapy and switched to combination therapy; 26 were initially prescribed monotherapy and continued to their therapies. The combination and unintentional monotherapy groups did not differ regarding remission rate assessed by DAS28-CRP (60.5% and 70%, respectively, p=0.328). The rate of comorbidities at the time of data retrieval was significantly higher in the unintentional monotherapy group compared with the combination group (83.3% vs. 60.3%, p=0.031). Presence of comorbidities was a significant factor affecting switching to monotherapy (p=0.039, Odds ratio: 3.29, 95% CI: 1.06-10.18). Drug survival rates of the unintentional monotherapy and combination groups did not differ. The median drug survival duration of tofacitinib was 27+ months with a 1-year and 4-year drug survival rates of 89.6% and 60.2%, respectively, in the unintentional monotherapy group. Conclusion Although 13.4% of the study population started monotherapy unintentionally, drug survival rates of the unintentional monotherapy and combination groups were not different. Comorbidity was an important factor affecting transition from combination therapy to monotherapy. This study was sponsored by Pfizer. Figure 1. Disclosure of Interests Nevsun Inanc: None declared, Kerem Abacar: None declared, mehmet akif ozturk: None declared, Abdurrahman Tufan: None declared, Hazan Karadeniz: None declared, İsmail Sari: None declared, gercek can: None declared, Yesim Erez: None declared, yavuz Pehlivan: None declared, Ediz Dalkiliç: None declared, Tuğba Ocak: None declared, Ayse Cefle: None declared, Ayten Yazici Grant/research support from: Ayten Yazici has received project grant from Roche Pharmaceuticals, Turkey., Abdurrahman Senel: None declared, Servet Akar: None declared, Elif Durak Ediboglu: None declared, Süleyman Serdar Koca: None declared, Rabia Piskin Sagir: None declared, Sema Yilmaz: None declared, Semral Gulcemal: None declared, Özgül Soysal Gündüz: None declared, Canberk Sami Başibüyük Employee of: employee of Pfizer Pharmaceuticals, Istanbul, Turkey., Serdar Alkan Employee of: employee and shareholder of Pfizer Inc., Istanbul, Turkey., Teoman Yusuf Cesur Employee of: employee of Pfizer Pharmaceuticals, Istanbul, Turkey., Fatos Onen: None declared
    Type of Medium: Online Resource
    ISSN: 0003-4967 , 1468-2060
    RVK:
    Language: English
    Publisher: BMJ
    Publication Date: 2022
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  • 9
    In: Annals of the Rheumatic Diseases, BMJ, Vol. 79, No. Suppl 1 ( 2020-06), p. 1678.1-1678
    Abstract: Although psoriatic arthritis (PsA) may be seen at any decades, juvenil onset PsA is relatively rare. Moreover, there were no more data about clinical features, treatments, and course in juvenile PsA when they reached to adult age. Objectives: The objective of this study was to assess and compare demographic and clinical features for juvenile onset PsA and adult onset PsA. Methods: PsART-ID is a multicenter, international database, investigating the disease characteristic in real life (1). Briefly, demographic data, PsA subtypes, uveitis, enthesitis, dactylitis, Co-morbidities, disease activity scores (TJC, SJC, VAS-pain, VAS patients and physician global assessments, VAS-fatigue, BASDAI), and functional status (HAQ-DI, BASFI) were recorded. Psoriasis and PsA starting age were noted, as well. Patients were classified as juvenile PsA or juvenile PsO (under 18 years old). Results were compared regarding to juvenile versus adult onset age. Results: Overall, 1644 PsA patients were included to study, 301/1644 (18.3%) patients had juvenile onset psoriasis. Of 39/1644 (2.4%) patients had juvenile onset PsA, as well. As expected, juvenile onset PsA patients were younger, however PsA disease duration were longer than adult onset PsA patients. There were no any difference between demographic and clinical data, except BMI and enthesitis were less frequently at the juvenile onset PsA groups. Although, ever csDMARD using were similar between two groups, however, juvenile onset PsA patients were used more frequently bDMARDs. Table. Comparison of demographic and clinical characteristics of juvenile and adult-onset psoriatic arthritis Juvenile onset Adult onset p N (%) 39 (2.4) 1605 (97.6) Female Sex n (%) 24 (61.5) 1006 (62.7) 0.884 PsA beginning age mean (SD) 13.3 ± 3.85 42.3 ± 12.9 〈 0.001 Current age mean (SD) 26.6 ±10.7 47.3 ±13.07 〈 0.001 Duration of psoriasis (years) 17.10 ± 11.26 14.75 ± 11.78 0.124 Duration of psoriatic arthritis (years) 13.5 ±11 5.06 ± 6.7 〈 0.001 Cigarette smoking (ever) n (%) 15/38 641/1494 0.72 Education duration/year (mean,SD) 10.09 ± 3.67 9.52 ± 4.81 0.464 BMI (kg/m2) (mean, SD) 24.5 ±5.1 28.3 ± 5.21 〈 0.001 Family history of PsO/PsA n (%) 15 (38.5) 559 (34.9) 0.642 Nail involvement n (%) 18 (46.2) 762 (47.5) 0.864 Dactilitis n (%) 9 (23.7) 367 (24) 0.958 Entesitis n (%) 3 (7.9) 384 (25.7) 0.013 Uveitis n (%) - 13 (4.3) 0.713 Axial involvement (%) 15 (38.5) 464 (29) 0.199 Methotrexate 36 (92.3) 1348 (84) 0.162 Sulfasalazine 17 (43.6) 612 (38.1) 0.488 Leflunomide 14 (35.9) 379 (23.6) 0.076 Biologic DMARDs 102 (33.9) 358 (26.8) 0.013 Conclusion: Although psoriasis may be seen frequently in the juvenile age, juvenile onset PsA was not so frequent in our PsA cohort. Although, ever csDMARD using were similar between two groups, however, juvenile onset PsA patients were used bDMARDs more frequently. References: [1]Kalyoncu U et al. The Psoriatic Arthritis Registry of Turkey: results of a multicenter registry on 1081 patients. Rheumatology. 2017;56:279-286. Disclosure of Interests: Serpil ERGULU EŞMEN: None declared, Ozun Bayindir: None declared, esen kasapoğlu: None declared, Sibel Bakirci: None declared, Dilek Solmaz: None declared, Gezmiş Kimyon: None declared, Atalay Doğru: None declared, Ediz Dalkiliç: None declared, Cem Özişler: None declared, Meryem Can: None declared, Servet Akar: None declared, Emine Figen Tarhan: None declared, Sule Yavuz: None declared, Levent Kiliç: None declared, Orhan Küçükşahin: None declared, Ahmet Omma: None declared, Emel Gönüllü: None declared, Fatih Yildiz: None declared, Duygu Ersözlü: None declared, abdurrahman tufan: None declared, Muhammet Çinar: None declared, Abdulsamet Erden: None declared, Sema Yilmaz: None declared, Seval Pehlevan: None declared, Mehmet Tuncay Duruöz: None declared, Sibel Aydin: None declared, Umut Kalyoncu Consultant of: Abbvie, Amgen, Janssen, Lilly, Novartis, UCB
    Type of Medium: Online Resource
    ISSN: 0003-4967 , 1468-2060
    RVK:
    Language: English
    Publisher: BMJ
    Publication Date: 2020
    detail.hit.zdb_id: 1481557-6
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  • 10
    In: Annals of the Rheumatic Diseases, BMJ, Vol. 79, No. Suppl 1 ( 2020-06), p. 1667.2-1668
    Abstract: Psoriasis and psoriatic arthritis (PsA) are heterogenous diseases with various disease manifestations and phenotypes. Psoriasis has a bimodal age of onset being early (before the age of 40, type 1) and late. The impact of this classification on the PsA features is not well understood. Objectives: To compare the PsA characteristics of patients with early- and late-onset psoriasis in a large, multicenter database Methods: PSART-ID (Psoriatic Arthritis-International Database) is a prospective, multicenter web-based registry ( www.trials-network.org ) of patients with PsA. A detailed data collection was performed including demographics (sex, age, duration of education, smoking status, BMI), skin features (psoriasis onset date, type, initially involved site of skin, nail involvement (ever) and family history) and PsA characteristics (type of articular involvement and presence of axial, dactylitis (ever), enthesitis (ever), family history) and indices for disease activity and function (DAPSA, Leeds enthesitis index, BASDAI, BASFI, patient and physician global assessment, pain, HAQ-DI). We grouped according to the age at psoriasis onset (early onset, psoriasis before the age of 40 (EOPsO); late-onset, psoriasis after the age of 40 (LOPsO)), patient and disease characteristics of the groups were compared (1). Due to the differences among groups, following adjustments weer made: BMI for age, nail involvement for PsO disease duration, axial PsA for PsA disease duration. Results: A total of 1634 (62.8% females; EOPsO, 1108 (67.8%); LOPsO, 526 (32.2%)) patients with PsA was recruited. Rate of over-weight patients was higher in LOPsO group (66.8% vs. 86.8%, p 〈 0.001; adjusted for age - aOR 1.55 (1.11-2.20; % 95 CI)). The EOPsO group had the scalp involvement as the initial site of skin disease more often than the LOPsO group (56.7% vs. 43.0%, p 〈 0.001), whereas extremity involvement was more frequent as the initial finding in the LOPsO group (EOPsO vs. LOPsO 63.8% vs. 74.2%, p 〈 0.001). Nail involvement (ever) was more prominent in EOPsO group, however, the significance was disappeared when adjusted for psoriasis duration. Interaction between gender and both axial disease and psoriatic disease family history were found (axial disease in man; EOPsO vs LOPsO; 38.0% vs. 25.4%; p=0.005; adjusted for PsA duration - aOR 0.56 (0.38-0.84; %95 CI) // psoriatic disease family history in females; EOPsO vs LOPsO; 39.5% vs. 30.1%; p=0.003; OR 0.65 (0.50-0.86; %95 CI)). Duration between PsO and PsA was significantly longer in EOPsO group (148 vs. 24 months, p 〈 0.001). In EOPsO group, more patients had PsO preceeding PsA than LOPsO group (81.8% vs. 60.6%, p 〈 0.001), however, synchronous disease -defined as the diagnosis of PsO and PsA within the same year- was more common in LOPsO group (16.6% vs. 30.3%, p 〈 0.001) (Table 1). Psoriatic disease activity parameters, patient and physician reported outcomes and HAQ-DI scores were similar in both groups. Table 1. Comparison of psoriatic arthritis patients‘ characteristics according to age at psoriasis onset Conclusion: Clinical features of PsA may be affected by the age at the onset of psoriasis. As the genetic background is different in early and late-onset psoriasis, this may suggest a different pathogenetic mechanism based on the psoriasis phenotype, also affecting the PsA features. Further prospective studies are needed to define whether the classification of PsA requires including psoriasis phenotypes as well. References: [1]Henseler T, Christophers E. Psoriasis of early and late onset: characterization of two types of psoriasis vulgaris. J Am Acad Dermatol. 1985;13(3):450-6. Disclosure of Interests: Emre Bilgin: None declared, Özün Bayindir: None declared, esen kasapoğlu: None declared, Sibel Bakirci: None declared, Dilek Solmaz: None declared, Gezmiş Kimyon: None declared, Atalay Doğru: None declared, Ediz Dalkiliç: None declared, Cem Özişler: None declared, Meryem Can: None declared, Servet Akar: None declared, Emine Figen Tarhan: None declared, Şule Yavuz: None declared, Levent Kiliç: None declared, Orhan Küçükşahin: None declared, Ahmet Omma: None declared, Emel Gönüllü: None declared, Fatih Yildiz: None declared, Duygu Ersözlü: None declared, abdurrahman tufan: None declared, Muhammet Çinar: None declared, Abdulsamet Erden: None declared, Sema Yilmaz: None declared, Seval Pehlevan: None declared, Tuncay Duruöz: None declared, Sibel Aydin: None declared, Umut Kalyoncu Consultant of: Abbvie, Amgen, Janssen, Lilly, Novartis, UCB
    Type of Medium: Online Resource
    ISSN: 0003-4967 , 1468-2060
    RVK:
    Language: English
    Publisher: BMJ
    Publication Date: 2020
    detail.hit.zdb_id: 1481557-6
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