MEFV, TNFRSF1A and CARD15 mutation analysis in Behçet's disease

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Department of Clinical Medicine, University of 'La Sapienza', Rome, Italy. yoavi100@gmail.com

CER3767 Submission on line
2011 Vol.29, N°4 ,Suppl.67 - PI 0024, PF 0027
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Rheumatology Article



Given the pathological similarities between Behçet`s disease (BD), Familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS) and Crohn`s disease (CD) we evaluated the frequency of mutations and polymorphisms in MEFV, TNFRSF1A and CARD15 in Israeli BD patients of either Jewish or Arab descent.
Fifty-four BD patients (11 Jews and 43 Arabs), evaluated with respect to the entire spectrum of BD disease manifestations, were granted a systemic severity score for BD. An association between BD manifestations and MEFV, TNFRSF1A and CARD15 variants was analysed.
Twelve patients (20.7%) displayed a single MEFV mutation and four patients (7.4%) had two mutated FMF alleles. Two patients (3.8%) carried a CARD15 variation and none carried a TNFRSF1A polymorphism. The frequency and distribution of mutated alleles between patients and controls was comparable (p=0.27). No statistically significant differences between carriers and non-carriers with respect to disease manifestations and severity score were calculated. Arab patients were diagnosed earlier than Jewish patients (25.8±11.6 and 37.2±10.7, respectively, p=0.06).
The overall MEFV high carrier frequency in our cohort of BD patients seems to be attributed to their Mediterranean extraction rather than related to BD. The propensity of Arabpatients (79.6%) in a cohort of BD patientsfrom northern Israel is highlighted in face of their proportion (20%) in the general population lending further support to arguments that favour a genetic component for BD.

PMID: 21385537 [PubMed]

Received: 11/04/2010 - Accepted : 20/10/2010 - In Press: 27/09/2011 - Published: 27/09/2011