MEFV gene variations in patients with systemic lupus erythematosus
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ORIGINAL ARTICLE
MEFV gene variations in patients with systemic lupus erythematosus Burak Erer • Fulya Cosan • Basar Oku • Duran Ustek • Murat Inanc • Orhan Aral Ahmet Gul
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Received: 8 August 2012 / Accepted: 2 February 2013 Ó Japan College of Rheumatology 2013
Abstract Objective The aim of this study was to investigate the frequency of familial Mediterranean fever (FMF)-associated MEFV gene variations in patients with systemic lupus erythematosus (SLE). Methods The study group comprised 190 SLE patients and 101 healthy controls of Turkish origin with no clinical features of FMF. All individuals were genotyped for the four most common MEFV gene variations (M694V, M680I, V726A and E148Q) by PCR-restriction fragment length polymorphism analysis. Results The frequency of carrying any of the four MEFV gene variations under study was 15 % in patients with SLE and 10 % in the healthy controls (p = 0.23). After the exclusion of the less penetrant E148Q variation, re-analysis for the three penetrant mutations revealed a significant association between exon 10 variations and pericarditis [p = 0.038, odds ratio (OR) 3.5, 95 % confidence interval (CI) 1.0–12.1], and pleural effusion (p = 0.043, OR 5.2, 95 % CI 0.8–30.9). No significant association was detected between the MEFV gene variations and a higher acute phase response. Conclusions The MEFV gene variations analyzed in our study do not seem to increase the overall susceptibility to SLE and do not have any strong association with its clinical B. Erer (&) F. Cosan M. Inanc O. Aral A. Gul (&) Division of Rheumatology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul 34390, Turkey e-mail: [email protected] A. Gul e-mail: [email protected] B. Oku D. Ustek A. Gul Department of Genetics, Institute for Experimental Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
manifestations. The possibility of a modest effect of penetrant exon 10 MEFV variants on the development of serosal effusions needs to be explored in a larger series of patients. Keywords Systemic lupus erythematosus MEFV Serositis Pericarditis Pleuritis
Introduction Familial Mediterranean fever (FMF), an autosomal recessively inherited autoinflammatory disorder, is characterized by recurrent, self-limited inflammatory attacks involving mainly serosal membranes. The disease has been associated with variations in the MEFV gene, which encodes the pyrin protein, in the great majority of patients [1, 2]. Pyrin is mainly expressed in mature granulocytes and fibroblasts, and it has been suggested that it plays a role in the regulation of inflammasome-mediated interleukin-1b (IL-1b) activation [3]. More than 50 missense mutations associated with the FMF phenotype have been described to date (http://fmf.igh.cnrs.fr/ISSAID/infevers/) that are considered to cause disordered activation and release of IL-1b and episodic inflammation [4]. FMF is the most common type of autoinflammatory disorder, and the heterozygous carrier rate for MEFV gene variat
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