title: NOD2/CARD15 gene mutations in patients with gouty arthritis.
abstract: 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.
authors.affiliation: Department of Orthopedics, Faculty of Medicine, Sifa University, Izmir, Turkey. ahmetkaraarslan@gmail.com.
authors.forename: Ahmet
authors.initials: A
authors.lastname: Karaarslan
authors.forename: Senol
authors.initials: S
authors.lastname: Kobak
authors.forename: Afig
authors.initials: A
authors.lastname: Berdeli
mesh_terms: D000328:Adult; D000368:Aged; D000842:Ankle / Q000473:pathology; D015210:Arthritis, Gouty / Q000235:genetics* / Q000473:pathology; D004247:DNA / Q000235:genetics; D005260:Female; D005385:Fingers / Q000473:pathology; D006801:Humans; D007596:Joints / Q000473:pathology; D007717:Knee / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D055815:Young Adult
chemical_list: C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein; D004247:DNA