Karaarslan Ahmet, Kobak Senol, Kaya Işın, Intepe Nazım, Orman Mehmet, Berdelı Afig
Department of Orthopedics, Faculty of Medicine, Sifa University, Bornova/Izmir, 35100, Turkey.
Department of Rheumatology, Faculty of Medicine, Sifa University, Bornova/Izmir, 35100, Turkey.
Rheumatol Int. 2016 Nov;36(11):1585-1589. doi: 10.1007/s00296-016-3560-x. Epub 2016 Sep 1.
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.
痛风性关节炎是一种慢性侵蚀性自身炎症性疾病。吡啶在炎性小体调节中具有抗炎作用，由MEFV基因编码。已证实不同风湿性疾病与MEFV基因突变之间的关系。本研究的目的是确定痛风性关节炎患者中MEFV基因突变的频率，并确定其与疾病表型之间可能存在的相关性。本研究纳入了93例痛风性关节炎患者和102例年龄、性别和种族相匹配的健康对照者。采用聚合酶链反应（PCR）方法研究MEFV基因突变情况。93例痛风性关节炎患者中，36例（38.7%）携带MEFV基因突变，而健康对照组为20.6%。痛风性关节炎患者中鉴定出的突变分布如下：R202Q 18例（19.3%）、E148Q 5例（5.4%）、K695R 4例（4.3%）、M680I 2例（2.1%）、V726A 2例（2.1%）、P369S 2例（2.1%）、R408Q 2例（2.1%）、M694V 1例（1.1%）。3例患者鉴定为复合杂合子。健康对照组中MEFV基因突变携带者的分布情况为：E148Q 11例（10.7%）、M694V
