Karaarslan Ahmet, Kobak Senol, Berdeli Afig
Department of Orthopedics, Faculty of Medicine, Sifa University, Izmir, Turkey.
Bosn J Basic Med Sci. 2016 Nov 10;16(4):276-279. doi: 10.17305/bjbms.2016.1339.
Nucleotide binding and oligomerization domains/caspase recruitment domain-containing protein 15 (NOD2/CARD15) is a cytoplasmic molecule controlling apoptosis and inflammatory processes by recognizing some microbial components. We aimed to identify the frequencies of NOD2/CARD15 gene mutations in patients with gouty arthritis and to determine their possible correlation with the disease phenotype. The study included 93 patients with gouty arthritis and 51 healthy controls matched for age, gender, and ethnicity. The NOD2/CARD15 R702W and G908R gene mutations were explored by the polymerase chain reaction restriction fragment length polymorphism method while the 3020insC mutation was analyzed by DNA sequencing. The mean patient age was 54.2 ± 14.2 years and mean duration of the disease was 3.1 ± 2.9 years. The first metatarsophalangeal and finger joint involvements were detected in 72 (77.4%) and 18 (19.5%) patients, respectively. Ankle arthritis and knee arthritis were detected in 43 (46.2%) and 20 (21.5%) patients, respectively. In total, 4 (9%) heterozygous mutations were detected in the G908R and R702W genes, while no mutation was detected in the 3020insC gene. Compared to the control group, there were no significant differences in all three DNA regions (G908R, R702W, and 3020insC; p = 0.452, p = 0.583, and p = 0.350, respectively). No correlation between the NOD2/CARD15 variants and clinical or laboratory findings (p > 0.05) was found. The frequencies of the NOD2/CARD15 gene mutations in the patients were similar to healthy control group. No association between clinical or laboratory findings and the NOD2/CARD15 gene mutations was observed.
核苷酸结合寡聚化结构域/胱天蛋白酶募集结构域包含蛋白15（NOD2/CARD15）是一种细胞质分子，通过识别某些微生物成分来控制细胞凋亡和炎症过程。我们旨在确定痛风性关节炎患者中NOD2/CARD15基因突变的频率，并确定其与疾病表型的可能相关性。该研究纳入了93例痛风性关节炎患者和51名年龄、性别和种族相匹配的健康对照。采用聚合酶链反应-限制性片段长度多态性方法检测NOD2/CARD15的R702W和G908R基因突变，同时通过DNA测序分析3020insC突变。患者的平均年龄为54.2±14.2岁，疾病平均病程为3.1±2.9年。分别在72例（77.4%）和18例（19.5%）患者中检测到第一跖趾关节和手指关节受累。分别在43例（46.2%）和20例（21.5%）患者中检测到踝关节关节炎和膝关节关节炎。总共在G908R和R702W基因中检测到4例（9%）杂合突变，而在3020insC基因中未检测到突变。与对照组相比，所有三个DNA区域（G908R、R702W和3020insC）均无显著差异（p分别为0.452、0.583和0.350）。未发现NOD2/CARD15变异与临床或实验室检查结果之间存在相关性（p>0.05）。患者中NOD2/CARD15基因突变的频率与健康对照组相似。未观察到临床或实验室检查结果与NOD2/CARD15基因突变之间存在关联。
