scholarly journals Association of HLA-B27, MEFV gene mutations, ERAP1, IL12B and IL23R gene polymorphisms with ankylosing spondylitis.

2014 ◽  
Author(s):  
Engin Yilmaz
Keyword(s):  
Ankylosing Spondylitis ◽  
Gene Polymorphisms ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Hla B27

scholarly journals Common Mediterranean Fever (MEFV) Gene Mutations Associated with Ankylosing Spondylitis in Turkish Population

2012 ◽  
Vol 33 (3) ◽  
pp. 113-118 ◽  
Author(s):  
Serbulent Yigit ◽  
Ahmet Inanir ◽  
Nevin Karakus ◽  
Esra Kesici ◽  
Nihan Bozkurt
Keyword(s):  
Ankylosing Spondylitis ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Turkish Population ◽  
M694v Mutation ◽  
Significant Difference ◽  
Mediterranean Fever ◽  
Genomic Dnas ◽  
Polymerase Chain ◽  
Turkish Patients

Ankylosing spondylitis (AS) is a common inflammatory rheumatic disease. Mediterranean fever (MEFV) gene, which has already been identified as being responsible for familial Mediterranean fever (FMF), is also a suspicious gene for AS because of the clinical association of these two diseases. The aim of this study was to explore the frequency and clinical significance ofMEFVgene mutations (M694V, M680I, V726A, E148Q and P369S) in a cohort of Turkish patients with AS. Genomic DNAs of 103 AS patients and 120 controls were isolated and genotyped using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods. There was a statistically significant difference of theMEFVgene mutation carrier rates between AS patients and healthy controls (p= 0.004, OR: 2.5, 95% CI: 1.32–4.76). This association was also observed in allele frequencies (p= 0.005, OR: 2.3, 95% CI: 1.27–4.2). A relatively higher frequency was observed for M694V mutation in AS patients than controls (10.7% versus 4.2% ,p= 0.060). There were no significant differences between MEFV mutation carriers and non-carriers with respect to the clinical and demographic characteristics. The results of this study suggest thatMEFVgene mutations are positively associated with a predisposition to develop AS.

scholarly journals Comparison of Clinical and Demographic Features of FMF with Sacroiliitis Patients with FMF and Axial Spondyloarthritis Patients

2020 ◽  
Author(s):  
Esra Dilşat Bayrak ◽  
Sukran Erten ◽  
Orhan Kucuksahin ◽  
Osman Ersoy
Keyword(s):  
Inflammatory Markers ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Recurrent Fever ◽  
Hla B27 ◽  
M694v Mutation ◽  
Genetic Features ◽  
Mediterranean Fever ◽  
Common Manifestation ◽  
Musculoskeletal Involvement

Abstract Objectives Familial Mediterranean fever (FMF) is the most common autoinflammatory disease, characterised by recurrent fever and serositis attacks lasting 1–3 days. Musculoskeletal involvement is the second most common manifestation in FMF patients. Sacroiliitis is another musculoskeletal involvement; as there is no spinal involvement, this is called FMF with sacroiliitis. This study was designed to investigate the clinical, demographic and genetic features of FMF in sacroiliitis patients and to compare them with axial SpA and FMF patients. Materials and Methods Forty-two FMF with sacroiliitis patients, 100 axial SpA patients and 100 FMF patients were recruited, and their demographic characteristics were recorded. Evidence of sacroiliitis was confirmed by sacroiliac joint MRI, and patients were examined for arthritis and enthesitis. MEFV gene mutations, HLA B27 positivity and ESR and CRP results were compared. Results In the FMF with sacroiliitis group, the M694V mutation was detected in 59.5% of patients. FMF with sacroiliitis patients were largely (83.3%) negative for HLA B27. The frequency of enthesitis was similar between FMF with sacroiliitis and axial SpA, and the frequency of arthritis was higher in axial SpA patients. Inflammatory markers (ESR and CRP) were statistically higher in FMF with sacroiliitis patients compared with axial SpA and FMF patients. Conclusion When all three groups were compared, the M694V mutation was more common, HLA B27 was largely negative and inflammatory markers were higher in the FMF with sacroiliitis group. FMF should be included in the differential diagnosis of sacroiliitis for managing treatment correctly and preventing complications.

AB1071 COEXISTENCE OF FAMILIAL MEDITERRANEAN FEVER WITH SPONDYLOARTHRITIS: CLINICAL CHARACTERISTIC AND TREATMENT OUTCOMES

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1824.1-1825
Author(s):  
T. Yüce İnel ◽  
İ. Sari ◽  
M. Birlik ◽  
G. Can ◽  
F. Onen
Keyword(s):  
Familial Mediterranean Fever ◽  
Treatment Outcomes ◽  
Clinical Characteristics ◽  
Mefv Gene ◽  
Laboratory Data ◽  
Gene Mutations ◽  
Symptom Duration ◽  
Hla B27 ◽  
M694v Mutation ◽  
Mediterranean Fever

Background:Studies indicate that there is an association with spondyloarthritis (SpA) and familial mediterranean fever (FMF) based on the following: 1) increased incidence of sacroiliitis in FMF, 2) MEFV gene mutations are significantly increased in ankylosing spondylitis (AS) and 3) both SpA and FMF show some common clinical manifestations such as the pattern of arthritis. However, characteristics of SpA associated with FMF such as clinical characteristics and treatment outcomes have been poorly documented and additional data is required on this topic.Objectives:To study the clinical and treatment characteristics of patients associated with FMF and SpA.Methods:Twenty-eight patients with FMF and SpA who were registered in our database were included in the study. Demographic, clinical, and laboratory data were collected. HLA-B27, MEFV gene mutations were recorded. Pelvic radiographs and sacroiliac joint magnetic resonance imaging (MRI) (if present) were scored based on the modified New York criteria (mNYc) and ASAS MRI definitions respectively. Treatment data were also recorded.Results:There were 28 FMF-SpA patients in the study (mean age 45.1±16.4 years, 57.2% male). The mean age of onset of FMF and SpA were 31.9±17.9 and 35.5±16.2 years respectively. SpA patients were predominantly axial (n=21, 75%), and only 7 (25%) were mainly peripheral type. Fifteen (53.5%) patients were satisfying mNYc for AS. Four (14%) patients were fulfilling ASAS non radiographic axial SpA definition. Bone marrow edema was detected in (36%) of the patients who underwent MRI (n=14). Two (7.1%) patients had SpA symptoms but did not classify into any of the ASAS arms. Arthritis observed in 19 (67.8%) patients with mostly in oligoarthritis type (79%). Ankle and knees were the most affected joints. Total hip replacement was present in 7% of the patients. Amyloidosis confirmed by biopsy was detected in 4 (14%) patients. Enthesitis (11%), uveitis (11%), Chron’s disease (7%), dactylitis (3%), and psoriasis (3%) was also noted. Nearly %30 patients required non IL-1 biologic therapy (BTx) to control SpA symptoms (axial 70%, peripheral 30%). 40% of the patients needed to switch non IL-1 BTx to another biologic agent because of lack of efficacy on SpA symptoms (25%) or due to the adverse event (25%) and active FMF not responding to non IL-1 biological agent (50%).Conclusion:We showed the following: 1) more female predominance in FMF-SpA patients compared to classic SpA, 2) FMF-SpA patients had lower frequency of HLA B27, 3) up to %30 of the patients required non-IL-1 BTx to control SpA symptoms and 4) in patients on non IL-1 BTx FMF symptoms responded in 80%.Table 1.The clinical characteristics of FMF-SPA patientsAge*45.1±16.4Male, n (%)16 (57.2)SpA symptom duration,years*9.5±7.0FMF symptom duration,years*12.6±9.6HLA-B27 positivity, n (%)5 (29.4)Mainly axial involvement, n (%)21 (75)Mainly peripheral involvement, n (%)7(25)mNY positivity, n (%)15 (53.5)MEFV (M694V) mutation18MEFV (non M694V) mutation19Amyloidosis, n (%)4 (14.2)Non IL-1 biological treatment for SpA symptoms, n (%)10 (35.7)*(mean ±S.D)Disclosure of Interests:None declared

scholarly journals Determining MEFV gene mutations and relationships with disease activity in patients with ankylosing spondylitis

2015 ◽  
Vol 37 (4) ◽  
pp. 244 ◽  
Author(s):  
Sunay Kaya ◽  
Emrullah Hayta ◽  
Sami Hizmetli ◽  
Ahmet Karadağ
Keyword(s):  
Ankylosing Spondylitis ◽  
Disease Activity ◽  
Mefv Gene ◽  
Gene Mutations

scholarly journals THU0389 OBESITY IS A STRONG PREDICTOR OF WORSE CLINICAL OUTCOMES AND TREATMENT RESPONSES TO BIOLOGICS IN PATIENTS WITH ANKYLOSING SPONDYLITIS

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 429.2-429
Author(s):  
L. Hu ◽  
X. Ji ◽  
F. Huang
Keyword(s):  
Ankylosing Spondylitis ◽  
Disease Activity ◽  
Clinical Outcomes ◽  
Normal Weight ◽  
Low Grade ◽  
Hla B27 ◽  
Treatment Responses ◽  
The Impact ◽  
Overweight Or Obesity

Background:Obesity population are rising rapidly and have become a major health issue. Studies have shown that obesity is a low-grade inflammatory status characterized by increase in proinflammatory cytokines.Objectives:To examine the impact of overweight or obesity on disease activity and treatment responses to biologics in patients with ankylosing spondylitis (AS) in a real-world setting.Methods:Body mass index (BMI) is available in 1013 patients from the Chinese Ankylosing Spondylitis Imaging Cohort (CASPIC). Differences in clinical outcomes (such as BASDAI, ASDAS, BASFI, and ASAS HI) and treatment responses to biologics (ΔBASDAI and ΔASDAS) over 3, 6, 9, and 12 months are assessed between BMI categories (normal weight BMI <24 kg/m2; overweight BMI=24-28 kg/m2; obesity BMI ≥28 kg/m2) using Kruskal-Wallis test. The association between BMI and clinical characteristics and treatment responses to biologics was determined, and multivariate median regression analyses were conducted to adjust for confounders (such as age, gender, smoke, and HLA-B27).Results:Among 1013 patients with AS, overweight accounts for 33%, while obesity for 12.4%. There were significant differences between patients who were obese or overweight and those with a normal weight regarding clinical outcomes (BASDAI: 2.90/2.56 vs 2.21; ASDAS-CRP: 2.20/1.99 vs 1.81; BASFI: 2.13/1.69 vs 1.38; ASAS HI: 6.87/5.29 vs 5.12 and BASMI: 2.35/1.76 vs 1.62; all P<0.05). After adjusting for age, gender, smoke, and HLA-B27, obesity remained associated with higher disease activity (BASDAI: β=0.55, P=0.005; ASDAS-CRP: β=0.40, P<0.001), poorer functional capacity (BASFI: β=0.58, P=0.001), worse health index (ASAS HI: β=1.92, P<0.001) and metrology index (BASMI: β=0.71, P=0.013). For TNFi users, BMI was found to be negatively correlated with changes in disease activity (ΔBASDAI and ΔASDAS) in the multivariate regression model (all P<0.05), and overweight and obese patients showed an unsatisfactory reduction in disease activity during 3-month, 6-month, 9-month, and 12-month follow-up period, compared to normal weight patients (all P<0.05).Conclusion:Overweight or obesity impacts greatly on clinical outcomes and treatment responses to biologics in patients with ankylosing spondylitis, which argues strongly for obesity management to become central to prevention and treatment strategies in patients with AS.References:[1]Maachi M, Pieroni L, Bruckert E, et al. Systemic low-grade inflammation is related to both circulating and adipose tissue TNFalpha, leptin and IL-6 levels in obese women. Int J Obes Relat Metab Disord 2004;28:993–7.Figure 1.Changes of disease activity for TNFi users during 3-, 6-, 9- and 12-month follow-up according to BMI categories. a: vs. normal weight, P<0.05 in 3 months; b: vs. normal weight, P<0.05 in 6 months; c: vs. normal weight, P<0.05 in 9 months; d: vs. normal weight, P<0.05 in 12 months.Acknowledgments:We appreciate the contribution of the present or former members of the CASPIC study group.Disclosure of Interests:None declared

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