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THU0531 NOD2/CARD15 Gene Mutations in Patients with Gouty Arthritis
  1. A. Karaarslan1,
  2. S. Kobak2,
  3. A. Berdeli3
  1. 1Ortopedics
  2. 2Rheumatology, Sifa University Faculty of Medicine
  3. 3Genetics and Molecular Medicine, Ege University Faculty of Medicine, Izmir, Turkey

Abstract

Background Gouty arthritis is a chronic erosive autoinflammatory disease. NOD2/CARD15 molecule has been shown to play important roles in the etiopathogenesis of many inflammatory diseases, resulting in predisposition to the diseases. NOD2/CARD15 is a cytoplasmic molecule which plays a role in controlling apoptosis as well as inflammatory processes by recognizing some microbial components.

Objectives The aim of this study was to identify the frequency of NOD2/CARD15 gene mutation in gouty arthritis patients and determine its possible correlation with disease phenotype.

Methods The study included 93 patients with gouty arthritis and 51 healthy controls matched for age, gender and ethnicity. NOD2/CARD15 gene mutations (R702W and G908R, 3020insC) were studied by PCR method.

Results Of the 93 patients included in the study, 72 were male and 21 were female. The mean patient age was 54.2±14.2 years, mean duration of the disease was 3.1 ± 2.9 years. In the clinical and laboratory evaluations of gouty arthritis patients; first MTP joint involvement was detected in 72 (77.4%), ankle arthritis in 43 (46.2%), knee arthritis in 20 (21.5%), finger joint involvement in 18 (19.5%) patients, increased serum levels of uric acid in 76 (81.7%) and CRP in 42 (45.2%) patients, and elevated ESR in 45 (48.4%) patients. Totally 4 (9%) heterozygous mutations were detected in the NOD2/CARD15 G908R and NOD2/CARD15 R702W genes, while no mutation was detected in the NOD2/CARD15 C3020ins gene. When compared with the control group, statistically significant difference was not detected for each of three regions (908,702,3020ins) (p=0.452, p=0.583 and p=0.350, respectively). In the patient group, statistically significant correlations were not detected in clinical and laboratory findings (first MTP arthritis, ankle arthritis, increased serum uric acid, ESR and CRP values) of the patients with and without mutations for each of the three regions (p>0.05)

Conclusions Similar frequency of NOD2/CARD15 gene mutations was detected in patients with gouty arthritis in comparison to healthy control group. Again, no correlation was observed between clinical as well as laboratory findings and NOD2/CARD15 gene mutation. Prospective studies with large series of patients are needed to be carried out on this topic.

Disclosure of Interest None declared

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