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NOD2/CARD15 gene mutations in patients with gouty arthritis

Ahmet Karaarslan1, Senol Kobak, Afig Berdeli

  • 1Department of Orthopedics, Faculty of Medicine, Sifa University, Izmir, Turkey. ahmetkaraarslan@gmail.com.

Bosnian Journal of Basic Medical Sciences
|July 1, 2016
PubMed

Insights

Frequencies of Nucleotide binding and oligomerization domains/caspase recruitment domain-containing protein 15 (NOD2/CARD15) gene mutations did not differ between gouty arthritis patients and controls. No association was found between NOD2/CARD15 variants and gouty arthritis clinical or laboratory features.

Area of Science:

  • Immunogenetics
  • Rheumatology
  • Molecular Biology

Background:

  • Nucleotide binding and oligomerization domains/caspase recruitment domain-containing protein 15 (NOD2/CARD15) is implicated in inflammatory responses and microbial recognition.
  • Genetic variations in NOD2/CARD15 have been linked to various inflammatory diseases, prompting investigation into its role in gouty arthritis.

Purpose of the Study:

  • To determine the frequencies of specific NOD2/CARD15 gene mutations (R702W, G908R, 3020insC) in patients with gouty arthritis.
  • To investigate potential correlations between these NOD2/CARD15 variants and the clinical or laboratory phenotype of gouty arthritis.

Main Methods:

  • Genotyping of NOD2/CARD15 R702W and G908R mutations using polymerase chain reaction restriction fragment length polymorphism.
  • Analysis of the NOD2/CARD15 3020insC mutation via DNA sequencing.
  • Comparison of mutation frequencies and clinical/laboratory data between 93 gouty arthritis patients and 51 healthy controls.

Main Results:

  • Four heterozygous mutations (9% total) were identified in the G908R and R702W genes; no 3020insC mutations were found.
  • No statistically significant differences in the frequencies of the studied NOD2/CARD15 mutations were observed between gouty arthritis patients and the control group (p > 0.05).
  • No significant correlations were found between NOD2/CARD15 variants and clinical manifestations or laboratory markers of gouty arthritis.

Conclusions:

  • The frequencies of NOD2/CARD15 gene mutations R702W, G908R, and 3020insC are similar in gouty arthritis patients and healthy individuals.
  • These specific NOD2/CARD15 variants do not appear to be associated with the development or clinical presentation of gouty arthritis in the studied population.

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