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OP0157 Prevalence and Significance of MEFV Gene Mutations in Patients with Gouty Arthritis
  1. S. Kobak1,
  2. A. Karaarslan2,
  3. I. Kaya3,
  4. N. Intepe2,
  5. M. Orman4,
  6. A. Berdeli5
  1. 1Rheumatology
  2. 2Ortopedics
  3. 3Genetics, Sifa University Faculty of Medicine
  4. 4Statistics
  5. 5Genetics and Molecular Medicine, Ege University Faculty of Medicine, Izmir, Turkey

Abstract

Background Gouty arthritis is a chronic erosive autoinflammatory disease. Pyrin has anti-inflammatory effects in the regulation of inflammasome and is encoded by the MEFV gene. MEFV gene mutations trigger inflammatory cascade and cause familial Mediterranean fever The relationship between different rheumatic diseases and the MEFV gene mutations was demonstrated.

Objectives The aim of this study was to determine the frequency of MEFV gene mutation in patients with gouty arthritis and identify a possible correlation with disease phenotype.

Methods Ninety-three patients with gouty arthritis and 102 healthy controls, compatible with age, gender and ethnicity, were included in the study. MEFV gene was investigated by PCR method.

Results Out of 93 patients with gouty arthritis, 36 (38.7%) showed MEFV gene mutation carriage, whereas 20.6% in healthy control group. Distribution of mutations identified in patients with gouty arthritis was as; R202Q in 18 (19.3%), E148Q in 5 (5.4%), K695R in 4 (4.3%), M680I in 2 (2.1%), V726A in 2 (2.1%), P369S in 2 (2.1%), R408Q in 2 (2.1%), M694V in 1 (1.1%), respectively. Three patients were identified with compound heterozygosity. Distribution of MEFV gene mutation carriage in healthy controls was; E148Q in 11 (10.7%), M694V in 2 (1.9%), M694I in 1 (0.9%), M680I in 2 (1.9%), V726A in 1 (0.9%), A744S in 1 (0.9%), K695R in 2 (1.9%), and P369S in 1 (0.9%) pateints, respectively. Higher MEFV gene mutation carrier frequency was observed in patients with gouty arthritis, compared with the control group (p=0.009). Heterozygous R202Q was the most common mutation detected in patients with gouty arthritis while heterozygous E148Q in healthy control group. Statistically significant difference was not detected between clinical findings of gouty arthritis and the MEFV gene mutations (p>0.05).

Conclusions We determined higher prevalence of MEFV gene mutation in patients with gouty arthritis compared with the healthy control group. The most frequently detected mutation was heterozygous R202Q wheras E148Q in healthy controls. High carriage rates of MEFV gene mutation in gouty arthritis suggests that it may play an important role in the pathogenesis of the disease and predisposition to the disease. In this regard, prospective studies are needed with larger series of patients.

Disclosure of Interest None declared

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