Person: DİRESKENELİ, RAFİ HANER
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DİRESKENELİ
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RAFİ HANER
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Publication Open Access Humoral immune response to mycobacterial heat shock protein (hsp)65 in the cerebrospinal fluid of neuro-Behcet patients(BLACKWELL SCIENCE LTD, 2001-12-25) DİRESKENELİ, RAFİ HANER; Tasci, B; Direskeneli, H; Serdaroglu, P; Akman-Demir, G; Eraksoy, M; Saruhan-Direskeneli, GAlthough systemic immune reactivity to 65-kD mycobacterial hsp65 (m-hsp65) has been shown previously in Behcet's disease (BD), local immune response was not investigated. Mie studied anti-m-hsp65 IgG, IgM and IgA antibodies in the serum and cerebrospinal fluid (CSF) of 25 ED patients with cerebral parenchymal involvement (p-NBD), seven ED patients with intracranial hypertension (ih-NBD), eight BD patients without central nervous system (CNS) involvement, 30 patients with multiple sclerosis (MS) and 24 patients with non-inflammatory CNS disorders (NIC). Significantly higher CSF IgG responses were detected in p-NBD patients (ELISA ratio 1.3 +/- 0.9) compared with NIC (0.7 +/- 0.4, P < 0.01). In p-NBD patients' IgG, IgM or IgA CSF anti-m-hsp65 positivity rate was 48% (12/25); this was significantly higher when compared with MS (3/30; P < 0.03) and NIC (3/24; P < 0.01). CSF anti-m-hsp65 IgG ratios correlated with the duration of ED (r = 0.4, P < 0.04) but not with the duration of neurological involvement. Serum IBM and IgA responses were elevated in ih-NBD, suggesting a different type of involvement than p-NBD. These results implicate an increased local humoral response to m-hsp65 in the CSF of p-NBD patients, which might be related to the pathogenesis of neurological involvement.Publication Open Access Analysis of the genetic component of systemic sclerosis in Iranian and Turkish populations through a genome-wide association study(OXFORD UNIV PRESS, 2019-02-01) DİRESKENELİ, RAFİ HANER; Gonzalez-Serna, David; Lopez-Isac, Elena; Yilmaz, Neslihan; Gharibdoost, Farhad; Jamshidi, Ahmadreza; Kavosi, Hoda; Poursani, Shiva; Farsad, Faraneh; Direskeneli, Haner; Saruhan-Direskeneli, Guhrer; Vargas, Sofia; Sawalha, Amr H.; Brown, Matthew A.; Yavuz, Sule; Mahmoudi, Mahdi; Martin, JavierObjectives. SSc is an autoimmune disease characterized by alteration of the immune response, vasculopathy and fibrosis. Most genetic studies on SSc have been performed in European-ancestry populations. The aim of this study was to analyse the genetic component of SSc in Middle Eastern patients from Iran and Turkey through a genome-wide association study. Methods. This study analysed data from a total of 834 patients diagnosed with SSc and 1455 healthy controls from Iran and Turkey. DNA was genotyped using high-throughput genotyping platforms. The data generated were imputed using the Michigan Imputation Server, and the Haplotype Reference Consortium as a reference panel. A meta-analysis combining both case-control sets was conducted by the inverse variance method. Results. The highest peak of association belonged to the HLA region in both the Iranian and Turkish populations. Strong and independent associations between the classical alleles HLA-DRB1*11:04 [P = 2.10 x 10(-24), odds ratio (OR) = 3.14] and DPB1*13:01 (P = 5.37 x 10(-14), OR = 5.75) and SSc were observed in the Iranian population. HLA-DRB1*11:04 (P = 4.90 x 10(-11), OR = 2.93) was the only independent signal associated in the Turkish cohort. An omnibus test yielded HLA-DRB1 58 and HLA-DPB1 76 as relevant amino acid positions for this disease. Concerning the meta-analysis, we also identified two associations close to the genome-wide significance level outside the HLA region, corresponding to IRF5-TNPO3 rs17424921-C (P = 1.34 x 10(-7), OR = 1.68) and NFKB1 rs4648133-C (P = 3.11 x 10(-7), OR = 1.47). Conclusion. We identified significant associations in the HLA region and suggestive associations in IRF5-TNPO3 and NFKB1 loci in Iranian and Turkish patients affected by SSc through a genome-wide association study and an extensive HLA analysis.Publication Metadata only Anti-CCP antibodies in rheumatoid arthritis and psoriatic arthritis(SPRINGER LONDON LTD, 2007) DİRESKENELİ, RAFİ HANER; Inanc, N.; Dalkilic, E.; Kamali, S.; Kasapoglu-Gunal, E.; Elbir, Y.; Direskeneli, H.; Inanc, M.Our aim is to assess the prevalence and associated clinical features of anti-CCP (cyclic citrullinated peptide) antibodies for RF (rheumatoid factor)-positive and RF-negative rheumatoid arthritis (RA) and psoriatic arthritis (PsA). In a prospective, cross-sectional, multi-centre study, we determined the titres of anti-CCP antibodies in 208 RA patients (129 RF-positive, 79 RF-negative), 56 PsA patients and 39 healthy controls (HC). Clinical parameters including disease activity (disease activity score 28-DAS28), physical disability (health assessment questionnaire-HAQ), functional capacity (functional class) and radiological erosions were investigated in patients with RA. In PsA patients, clinical and radiological features were determined. Anti-CCP2 antibodies were measured using a second-generation anti-CCP enzyme-linked immunosorbent assay (Euro-Diagnostica, Netherlands). One-hundred four of 129 RF-positive RA (81%), 16 of 79 RF-negative RA (20%), seven of 56 PsA patients (12.5%) and none of the HC had anti-CCP antibodies. RA patients with anti-CCP antibodies had significantly higher disease activity, greater loss of function and more frequent erosive disease than anti-CCP antibody-negative group. In subgroup analysis, anti-CCP antibodies in RF-negative patients were also associated with erosive disease. All PsA patients with anti-CCP antibodies had symmetric arthritis with higher number of swollen joints. The prevalence of anti-CCP antibodies in RF-positive RA patients was significantly higher than in RF-negative RA and PsA patients. Anti-CCP antibodies were also associated with erosive disease in RF-negative RA patients. Both anti-CCP and RF tests were negative in 30% of the patients. Anti-CCP positivity was a frequent finding in PsA and associated with symmetrical polyarthritis.Publication Open Access Assessment of the frequency of cardiovascular risk factors in patients with Takayasu's arteritis(OXFORD UNIV PRESS, 2017-11-01) ÇIKIKÇI, CEYLAN; Alibaz-Oner, Fatma; Koster, Matthew J.; Unal, Ali U.; Yildirim, Hale G.; Cikikci, Ceylan; Schmidt, Jean; Crowson, Cynthia S.; Makol, Ashima; Ytterberg, Steven R.; Matteson, Eric L.; Direskeneli, Haner; Warrington, Kenneth J.Objectives. The prevalence of atherosclerotic risk factors and disease in Takayasu's arteritis (TAK) has not been well defined. We aimed to assess the frequency of cardiovascular (CV) risk factors and the incidence of CV events (CVEs) in patients with TAK from two ethnically different populations. Methods. Patients with TAK followed at Mayo Clinic, Rochester, MN, USA and Marmara University, Istanbul, Turkey were included in this retrospective study. Patients with TAK were compared with age-, sex- and calendar year-matched controls from the same geographical region without TAK. The 2008 Framingham 10-year general CV risk score (FRS) was used for the evaluation of CV risk at the time of TAK incidence/index date. Results. In total, 191 patients with TAK and 191 non-TAK controls were included. Hypertension and the prevalence of lipid-lowering treatments were significantly more frequent in TAK. Prior to the incidence/index date, occurrence of CVE was significantly higher in TAK. The FRS was significantly higher in TAK compared with non-TAK at incidence/index date. The cumulative incidence of CVE was 15.4% at 10 years in TAK vs 5.8% in non-TAK; the risk of CVE was increased among patients with TAK (hazard ratio = 4.36; 95% CI: 1.25, 15.13). Conclusion. CV risk factors are more common in patients with TAK, particularly hypertension. The FRS is higher in patients with TAK at the time of diagnosis. The cumulative incidence of CVE was also significantly higher during follow-up in TAK. Our results suggest that patients with TAK should undergo careful assessment of CV risk factors, and an aggressive risk modification approach is warranted.Publication Metadata only The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia(TUBITAK SCIENTIFIC & TECHNICAL RESEARCH COUNCIL TURKEY, 2019) DİRESKENELİ, RAFİ HANER; Yasar Bilge, N. Sule; Sari, Ismail; Solmaz, Dilek; Senel, Soner; Emmungil, Hakan; Kilic, Levent; Yilmaz Oner, Sibel; Yildiz, Fatih; Yilmaz, Sedat; Ersozlu Bozkirli, Duygu; Aydin Tufan, Muge; Yilmaz, Sema; Yazisiz, Veil; Pehlivan, Yavuz; Bes, Cemal; Yildirim Cetin, Gozde; Erten, Sukran; Gonullu, Emel; Sahin, Fezan; Akar, Servet; Aksu, Kenan; Kalyoncu, Umut; Direskeneli, Haner; Erken, Eren; Kisacik, Bunyamin; Sayarlioglu, Mehmet; Cinar, Muhammed; Kasifoglu, TimucinBackground/aim: The distribution of Mediterranean fever (MEFV) gene mutations in Turkish familial Mediterranean fever (FMF) patients varies according to geographic area of Turkey. There is a need for highly representative data for Turkish FMF patients. The aim of our study was to investigate the distribution of the common MEFV mutations in Turkish FMF patients in a nationwide, multicenter study. Materials and methods: Data of the 2246 FMF patients, from 15 adult rheumatology clinics located in different parts of the country, were evaluated retrospectively. The following mutations have been tested in all patients: M694V, M680I, M694I, V726A, and E148Q. Results: There were 1719 FMF patients with available genetic testing. According to the genotyping, homozygous M694V, present in 413 patients (24%), was the most common mutation . One hundred and fifty-four (9%) of patients had no detectable mutations. Allele frequencies of common mutations were: M694V (n = 1529, 44.5%), M680I (n = 423, 12.3%), V726A (n = 315, 9.2%), E148Q (n = 214, 1%), and M694I (n = 12, <1%). Conclusion: In this large-scale multicenter study, we provided information about the frequencies of common MEFV gene mutations obtained from adult Turkish IMF patients. Nearly half of the patients were carrying at least one M694V mutations in their alleles.Publication Metadata only Association of venous thromboembolic events with skin, pulmonary and kidney involvement in ANCA-associated vasculitis: a multinational study(OXFORD UNIV PRESS, 2021) DİRESKENELİ, RAFİ HANER; Moiseev, Sergey; Kronbichler, Andreas; Makarov, Egor; Bulanov, Nikolay; Crnogorac, Matija; Direskeneli, Haner; Galesic, Kresimir; Gazel, Ummugulsum; Geetha, Duvuru; Guillevin, Loic; Hruskova, Zdenka; Little, Mark A.; Ahmed, Adeel; McAdoo, Stephen P.; Mohammad, Aladdin J.; Moran, Sarah; Novikov, Pavel; Pusey, Charles D.; Rahmattulla, Chinar; Satrapova, Veronika; Silva, Joana; Terrier, Benjamin; Tesar, Vladimir; Westman, Kerstin; Jayne, David R. W.Objective. To investigate the occurrence of venous thromboembolic events (VTE) in a large cohort of patients with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) across the European Union, Turkey, Russia, UK and North America. Methods. Patients with a definite diagnosis of AAV who were followed for at least 3months and had sufficient documentation were included. Data on VTE, including either deep vein thrombosis or pulmonary embolism, were collected retrospectively from tertiary vasculitis centres. Univariate and multivariate regression models were used to estimate odds ratios (ORs) and 95% CIs. Results. Over a median follow-up of 63 (interquartile range: 29, 101) months, VTE occurred in 278 (9.7%) of 2869 AAV patients with a similar frequency across different countries (from 6.3% to 13.7%), and AAV subtype [granulomatosis with polyangiitis: 9.8% (95% CI: 8.3, 11.6%); microscopic polyangiitis: 9.6% (95% CI: 7.9, 11.4%); and eosinophilic granulomatosis with polyangiitis: 9.8% (95% CI: 7.0, 13.3%)]. Most VTE (65.6%) were reported in the first-year post-diagnosis. Multiple factor logistic regression analysis adjusted for sex and age showed that skin (OR 1.71, 95% CI: 1.01, 2.92), pulmonary (OR 1.78, 95% CI: 1.04, 3.14) and kidney [eGFR 15-60ml/min/1.73 m(2), OR 2.86 (95% CI: 1.27, 6.47); eGFR <15ml/min/1.73 m(2), OR 6.71 (95% CI: 2.94, 15.33)] involvement were independent variables associated with a higher occurrence of VTE. Conclusion. Two-thirds of VTE occurred during the initial phase of active disease. We confirmed previous findings from smaller studies that a decrease in kidney function, skin involvement and pulmonary disease are independently associated with VTE.Publication Open Access Early response to immunosuppressive therapy predicts good renal outcome in lupus nephritis lessons from long-term followup of patients in the Euro-Lupus Nephritis Trial - Lessons from long-term followup of patients in the Euro-Lupus Nephritis Trial(WILEY, 2004-12) DİRESKENELİ, RAFİ HANER; Houssiau, FA; Vasconcelos, C; D'Cruz, D; Sebastiani, GD; Garrido, ED; Danieli, MG; Abramovicz, D; Blockmans, D; Mathieu, A; Direskeneli, H; Galeazzi, M; Gul, A; Levy, Y; Petera, P; Popovic, R; Petrovic, R; Sinico, RA; Cattaneo, R; Font, J; Depresseux, GV; Cosyns, JP; Cervera, RObjective. In the Euro-Lupus Nephritis Trial (ELNT), 90 patients with lupus nephritis were randomly assigned to a high-dose intravenous cyclophosphamide (IV CYC) regimen (6 monthly pulses and 2 quarterly pulses with escalating doses) or a low-dose IV CYC regimen (6 pulses of 500 mg given at intervals of 2 weeks), each of which was followed by azathioprine (AZA). After a median followup of 41 months, a difference in efficacy between the 2 regimens was not observed. The present analysis was undertaken to extend the followup and to identify prognostic factors. Methods. Renal function was prospectively assessed quarterly in all 90 patients except 5 who were lost to followup. Survival curves were derived using the Kaplan-Meier method. Results. After a median followup of 73 months, there was no significant difference in the cumulative probability of end-stage renal disease or doubling of the serum creatinine level in patients who received the low-dose IV CYC regimen versus those who received the high-dose regimen. At long-term followup, 18 patients (8 receiving low-dose and 10 receiving high-dose treatment) had developed permanent renal impairment and were classified as having poor long-term renal outcome. We demonstrated by multivariate analysis that early response to therapy at 6 months (defined as a decrease in serum creatinine level and proteinuria <1 gm/24 hours) was the best predictor of good long-term renal outcome. Conclusion. Long-term followup of patients from the ELNT confirms that, in lupus nephritis, a remission-inducing regimen of low-dose IV CYC followed by AZA achieves clinical results comparable with those obtained with a high-dose regimen. Early response to therapy is predictive of good long-term renal outcome.Publication Metadata only Association of FMF-Related (MEFV) point mutations with secondary and FMF amyloidosis(KARGER, 2004) DİRESKENELİ, RAFİ HANER; Atagunduz, MP; Tuglular, S; Kantarci, G; Akoglu, E; Direskeneli, HBackground: Familial Mediterranean fever (FMF) is the major cause of AA amyloidosis in Turkey. M694V mutation in MEFV gene was suggested to be associated with severe clinical features and amyloidosis of FMF. Methods: In this study, the frequencies of three FMF-related MEFV mutations (M694V, M6801 and V726A) were investigated in FMF patients with (AA-FMF, n=37) and without amyloidosis (non-AA-FMF, n=35), in patients with secondary amyloidosis related to non-FMF inflammatory conditions (S-AA, n=19) and in a non-inflammatory control group (n=185) by molecular genetic studies using polymerase chain reaction with the ARMS (amplification refractory mutation system) method. Results: Both AA and non-AA-FMF patients had significantly higher MEFV mutations compared to non-inflammatory controls (81 and 62.7% respectively vs. 4.2%, p=0.0001). AA-FMF patients carried significantly more MEFV mutations than non-AA-FMF patients (p=0.01). M694V was the most common mutation in both FMF groups (63.5 vs. 51.4%), however allele frequency (p=0.17) and the number of homoyzgous patients for this mutation did not differ between the groups (p=0.77). Although lower compared to FMF patients, S-AA patients also had a significantly higher incidence of MEFV mutations than non-inflammatory controls (21 vs. 4.2%) (p=0.0002). M694V was the only MEFV mutation in this group. Conclusion: MEFV mutations are found to be increased both in FMF and non-FMF associated secondary amyloidosis in our study; however, no clear association between M694V and amyloidosis is observed, except in the non-FMF group. Our results suggest that MEVF mutations may also serve as a severity marker for other inflammatory conditions. Copyright (C) 2004 S. Karger AG, Basel.Publication Open Access Identification of Multiple Genetic Susceptibility Loci in Takayasu Arteritis(CELL PRESS, 2013-08) ALİBAZ ÖNER, FATMA; Saruhan-Direskeneli, Guher; Hughes, Travis; Aksu, Kenan; Keser, Gokhan; Coit, Patrick; Aydin, Sibel Z.; Alibaz-Oner, Fatma; Kamali, Sevil; Inanc, Murat; Carette, Simon; Hoffman, Gary S.; Akar, Servet; Onen, Fatos; Akkoc, Nurullah; Khalidi, Nader A.; Koening, Curry; Karadag, Omer; Kiraz, Sedat; Langford, Carol A.; McAlear, Carol A.; Ozbalkan, Zeynep; Ates, Askin; Karaaslan, Yasar; Maksimowicz-McKinnon, Kathleen; Monach, Paul A.; Ozer, Huseyin T.; Seyahi, Emire; Fresko, Izzet; Cefle, Ayse; Seo, Philip; Warrington, Kenneth J.; Ozturk, Mehmet A.; Ytterberg, Steven R.; Cobankara, Veli; Onat, A. Mesut; Guthridge, Joel M.; James, Judith A.; Tunc, Ercan; Duzgun, Nursen; Bicakcigil, Muge; Yentur, Sibel P.; Merkel, Peter A.; Direskeneli, Haner; Sawalha, Amr H.Takayasu arteritis is a rare inflammatory disease of large arteries. The etiology of Takayasu arteritis remains poorly understood, but genetic contribution to the disease pathogenesis is supported by the genetic association with HLA-B*52. We genotyped similar to 200,000 genetic variants in two ethnically divergent Takayasu arteritis cohorts from Turkey and North America by using a custom-designed genotyping platform (Immunochip). Additional genetic variants and the classical HLA alleles were imputed and analyzed. We identified and confirmed two independent susceptibility loci within the HLA region (r(2) < 0.2): HLA-B/MICA (rs12524487, OR = 3.29, p = 5.57 x 10(-16)) and HLA-DQB1/HLA-DRB1 (rs113452171, OR = 2.34, p = 3.74 x 10(-9); and rs189754752, OR = 2.47, p = 4.22 x 10(-9)). In addition, we identified and confirmed a genetic association between Takayasu arteritis and the FCGR2A/FCGR3A locus on chromosome 1 (rs10919543, OR = 1.81, p = 5.89 x 10(-12)). The risk allele in this locus results in increased mRNA expression of FCGR2A. We also established the genetic association between IL12B and Takayasu arteritis (rs56167332, OR = 1.54, p = 2.18 x 10(-8)).Publication Metadata only Lack of association between IL-6 gene polymorphisms and rheumatoid arthritis in Turkish population(SPRINGER HEIDELBERG, 2012) ARMAN, AHMET; Arman, A.; Coker, A.; Sarioz, O.; Inanc, N.; Direskeneli, H.Inflammatory cytokines play an important role in the pathogenesis of rheumatoid arthritis (RA). One of candidate genes is interleukin-6 (IL-6), and single-nucleotide polymorphisms in the promoter region of IL-6 were found to be associated with RA. The aim of this study was to determine the association between IL-6 promoter polymorphisms (-174, -572, -597) and RA in Turkish population. A total of 425 subjects were recruited into the study (247 healthy controls and 178 RA). The promoter region of IL-6 gene was amplified by PCR using DNAs from patients and the controls, and their PCR products were digested by suitable enzymes. No significant association was found between RA and -174 genotype distribution (P = 0.535) and allele frequency (P = 0.230). There was also no relationship between -572 (P = 0.150) and -597 (P = 0.912) gene polymorphism and RA. Our results suggested that IL-6 gene promoter polymorphisms have no association with RA in Turkish population.
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