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Prevalence and significance of MEFV gene mutations in patients with gouty arthritis

Ahmet Karaarslan1, Senol Kobak2, Işın Kaya3

  • 1Department of Orthopedics, Faculty of Medicine, Sifa University, Bornova/Izmir, 35100, Turkey.

Rheumatology International
|September 3, 2016
PubMed

Insights

Higher MEFV gene mutation carriage was found in gouty arthritis patients compared to controls. The R202Q mutation was most common in patients, suggesting a role in gouty arthritis pathogenesis and predisposition.

Area of Science:

  • Genetics
  • Rheumatology
  • Immunology

Background:

  • Gouty arthritis is a chronic, erosive autoinflammatory disease.
  • Pyrin, encoded by the MEFV gene, regulates inflammasome activity and possesses anti-inflammatory properties.
  • MEFV gene mutations are linked to various rheumatic diseases.

Purpose of the Study:

  • To determine the frequency of MEFV gene mutations in gouty arthritis patients.
  • To investigate the correlation between MEFV gene mutations and gouty arthritis phenotype.

Main Methods:

  • A case-control study involving 93 gouty arthritis patients and 102 healthy controls.
  • MEFV gene mutations were identified using the Polymerase Chain Reaction (PCR) method.

Main Results:

  • MEFV gene mutation carriage was higher in gouty arthritis patients (38.7%) than in controls (20.6%) (p=0.009).
  • Heterozygous R202Q was the most frequent mutation in gouty arthritis patients (19.3%).
  • No statistically significant difference was found between clinical findings and MEFV gene mutations (p>0.05).

Conclusions:

  • A higher prevalence of MEFV gene mutations exists in gouty arthritis patients compared to healthy individuals.
  • The frequent carriage of MEFV gene mutations in gouty arthritis suggests a potential role in disease pathogenesis and predisposition.
  • R202Q mutation is significantly associated with gouty arthritis.
Keywords:
Gouty arthritisMEFV mutationsPrevalence

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