We are analyzing https://link.springer.com/article/10.1007/s00296-012-2609-8.

Title:
The association of TNFRSF1A gene and MEFV gene mutations with adult onset Still’s disease | Rheumatology International
Description:
Adult onset Still’s disease (ASD) is a systemic inflammatory disorder of unknown etiology. ASD is characterized by fever with unknown etiology, rash, arthritis, and involvement of several organ systems. FMF and TRAPS are two important autoinflammatory diseases which characterized with recurrent inflammatory attacks. We aimed in this study to investigate the MEFV gene and TNFRSF1A gene variations in ASD. Twenty consecutive Turkish ASD patients (14 female and 6 male; mean age 38.45 ± 14; mean disease duration 3.3 ± 2.3; mean age of the disease onset 35.1 ± 14.4) and 103 healthy controls of Turkish origin were analyzed. All ASD patients were genotyped for the 4 MEFV mutations (M694V, E148Q, V726A, M680I) and TNFRSF1A gene exon 2–3 and exon 4–5 by using sequence analysis. The healthy controls are genotyped using PCR–RFLP method for intron 4 variation. The results of MEFV gene mutations screening show an increase in the MEFV mutation rate in ASD group, but it was not significantly different (p = 0.442, OR 1.64, 95 % CI 0.409–6.589). T–C polymorphism (rs1800692) was the only variation in the intron 4 of TNFRSF1A gene that we observed at the ASD patients. The frequency of TT genotype was 15 %, TC: 45 %, and CC: 40 % in ASD patients and the frequencies were 22, 41, and 37 % in healthy controls, respectively. When we analyzed the allele difference between both groups, there was no difference (p = 0.54, OR 1.24, 0.619–2.496–2.654). The variations in MEFV may have role in ASD pathogenesis. Our findings suggest that there is no significant association between ASD and TNFRSF1A variations.
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article, google, scholar, pubmed, gene, cas, mefv, arthritis, disease, fever, periodic, mutations, syndrome, factor, tnfrsfa, asd, patients, necrosis, stills, mediterranean, tumor, onset, rheumatol, rheum, adult, traps, receptor, familial, receptorassociated, autoinflammatory, powell, cosan, mutation, clinical, mcdermott, kastner, privacy, cookies, content, association, evidence, tnf, clin, aksentijevich, todd, publish, research, search, rheumatology, fulya,

Topics {✒️}

month download article/chapter tumor-necrosis-factor receptor auto-inflammatory fever syndromes potential disease-modifying effect neslihan abaci & duran ustek familial mediterranean fever mediterranean fever gene autoinflammatory disorders full article pdf hereditary recurrent fevers experimental medical research nuclear factor-kappa bridges sl jr privacy choices/manage cookies show abnormal behaviour juvenile idiopathic arthritis mefv mutation rate recurrent inflammatory attacks systemic inflammatory disorder periodic fever syndrome 55 kda tnf receptor tnfrsf1a gene variations mefv gene mutations related subjects rheumatoid arthritis carrying mefv messenger rna european economic area pcr–rflp method henoch-schönlein purpura ozçakar zb childhood polyarteritis nodosa amel-kashipaz mr lachmann hj janssens-korpola pl primary human fibroblasts periodic syndrome phenotypes lobito aa article cosan sema sirma ekmekci schroeder hw jr draper-morgan ka mefv mutations modify van amstel hk genotype-phenotype studies carneiro-sampaio mm conditions privacy policy accepting optional cookies important autoinflammatory diseases monogenic autoinflammatory diseases manifesting adult-onset

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Giaglis S, Mimidis K, Papadopoulos V, Thomopoulos K, Sidiropoulos P, Rafail S, Nikolopoulou V, Fragouli E, Kartalis G, Tzioufas A, Boumpas D, Ritis K (2006) Increased frequency of mutations in the gene responsible for familial Mediterranean fever (MEFV) in a cohort of patients with ulcerative colitis: evidence for a potential disease-modifying effect?
Grateau G, Duruöz MT (2010) Autoinflammatory conditions: when to suspect?

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         description:Adult onset Still’s disease (ASD) is a systemic inflammatory disorder of unknown etiology. ASD is characterized by fever with unknown etiology, rash, arthritis, and involvement of several organ systems. FMF and TRAPS are two important autoinflammatory diseases which characterized with recurrent inflammatory attacks. We aimed in this study to investigate the MEFV gene and TNFRSF1A gene variations in ASD. Twenty consecutive Turkish ASD patients (14 female and 6 male; mean age 38.45 ± 14; mean disease duration 3.3 ± 2.3; mean age of the disease onset 35.1 ± 14.4) and 103 healthy controls of Turkish origin were analyzed. All ASD patients were genotyped for the 4 MEFV mutations (M694V, E148Q, V726A, M680I) and TNFRSF1A gene exon 2–3 and exon 4–5 by using sequence analysis. The healthy controls are genotyped using PCR–RFLP method for intron 4 variation. The results of MEFV gene mutations screening show an increase in the MEFV mutation rate in ASD group, but it was not significantly different (p = 0.442, OR 1.64, 95 % CI 0.409–6.589). T–C polymorphism (rs1800692) was the only variation in the intron 4 of TNFRSF1A gene that we observed at the ASD patients. The frequency of TT genotype was 15 %, TC: 45 %, and CC: 40 % in ASD patients and the frequencies were 22, 41, and 37 % in healthy controls, respectively. When we analyzed the allele difference between both groups, there was no difference (p = 0.54, OR 1.24, 0.619–2.496–2.654). The variations in MEFV may have role in ASD pathogenesis. Our findings suggest that there is no significant association between ASD and TNFRSF1A variations.
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