Association of NOD1, NOD2, PYDC1 and PYDC2 genes with Behcet's disease susceptibility and clinical manifestations. (2nd November 2021)

• Record Type: Journal Article
• Authors: Kocaaga, Ayca; Cakmak Genc, Gunes; Karakas Celık, Sevim; Koca, Rafet; Dursun, Ahmet
• Is Part Of: Ophthalmic genetics. Volume 42:Number 6(2021)
• Page Start: 691
• Page End: 697
• Publication Date: 2021-11-02
• Subjects: Behçet's disease -- NOD1 gene -- NOD2 gene -- polymorphism -- PYDC2 gene -- Sanger sequencing; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.1080/13816810.2021.1955273
• Languages: English
• ISSNs: 1381-6810

Abstract

ABSTRACT: Purpose: Behçet's disease (BD) is an autoinflammatory disease with clinical manifestations such as mucocutaneous, ocular, vascular, gastrointestinal, musculoskeletal and central nervous system involvement. Features of innate and adaptive immunity and inflammasome pathways have been claimed in the pathogenesis of BD. We aimed to investigate the roles of NOD1, NOD2, PYDC1 and PYDC2 genes in the genetic predisposition of BD. Materials and Methods: Genetic variations of NOD1 (rs2075820 and rs2075818) and NOD2 (R334Q and R334W) genes were explored in 68 BD patients and 70 controls with PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) approach. PYDC1 and PYDC2 gene variants were investigated by Sanger sequencing. Results: The polymorphism of rs2075820 (NOD1 G/A) had a statistically significant difference between the BD and controls, AA genotype was 2.460-fold protective. When compared in terms of cardiovascular involvement in BD patients, AA genotype was increased the risk of cardiovascular involvement 4.286-fold. There was a significant difference between BD and controls in rs2075818 (NOD1 G/C) polymorphism and CC genotype increased the risk of BD by 3.780-fold. In terms of rs2075818 variants, there was a statistically significant difference between BD patients with ocular lesions, joints, cardiovascular and gastrointestinal involvement and controls. There was a significant difference between the patients with joint involvement and controls and the risk increased of 3.310-fold. Conclusion: The data shed new light on the association between polymorphisms of NOD1 gene and BD and clinicial manifestations. However, NOD2, PYDC1 and PYDC2 genes were not associated with BD in the Turkish population.