title: Prevalence and significance of MEFV gene mutations in patients with gouty arthritis.
abstract: 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. The relationship between different rheumatic diseases and the MEFV gene mutations was demonstrated. The aim of this study was to determine the frequency of MEFV gene mutations in patients with gouty arthritis and identify a possible correlation with disease phenotype. Ninety-three patients with gouty arthritis and 102 healthy controls, compatible with age, gender and ethnicity, were included in the study. MEFV gene mutations were investigated by PCR method. Out of 93 patients with gouty arthritis, 36 (38.7 %) showed MEFV gene mutations 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 %), M694 V in 1 (1.1 %), respectively. Three patients were identified with compound heterozygosity. Distribution of MEFV gene mutations carriage in healthy controls was; E148Q in 11 (10.7 %), M694 V 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 %) patients, respectively. Higher MEFV gene mutations 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). We determined higher prevalence of MEFV gene mutations in patients with gouty arthritis compared with the healthy control group. The most frequently detected mutation was heterozygous R202Q, whereas E148Q in healthy controls. High carriage rates of MEFV gene mutations in gouty arthritis suggest that it may play an important role in the pathogenesis of the disease and predisposition to the disease.
authors: Department of Orthopedics, Faculty of Medicine, Sifa University, Bornova/Izmir, 35100, Turkey.
authors: Ahmet
authors: A
authors: Karaarslan
authors: Department of Rheumatology, Faculty of Medicine, Sifa University, Bornova/Izmir, 35100, Turkey. senolkobak@yahoo.com.
authors: Senol
authors: S
authors: Kobak
authors: Department of Genetics, Faculty of Medicine, Sifa University, Bornova/Izmir, 35100, Turkey.
authors: Işın
authors: I
authors: Kaya
authors: Department of Orthopedics, Faculty of Medicine, Sifa University, Bornova/Izmir, 35100, Turkey.
authors: Nazım
authors: N
authors: Intepe
authors: Department of Statistics, Faculty of Medicine, Sifa University, Bornova/Izmir, 35100, Turkey.
authors: Mehmet
authors: M
authors: Orman
authors: Department of Genetics and Molecular Medicine, Sifa University, Bornova/Izmir, 35100, Turkey.
authors: Afig
authors: A
authors: Berdelı
mesh_terms: D000328:Adult; D000368:Aged; D015210:Arthritis, Gouty / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D000071198:Pyrin / Q000235:genetics*
chemical_list: C000604192:MEFV protein, human; D000071198:Pyrin
keywords: Gouty arthritis; MEFV mutations; Prevalence