Association of NOD1 and NOD2 Polymorphisms With Susceptibility to Subacute Sclerosing Panencephalitis.

Background: Subacute sclerosing panencephalitis is a progressive neurodegenerative disease that is a late complication of measles infection. However, to date, the pathogenesis of subacute sclerosing panencephalitis is still not explained; both viral and host factors seem to be associated. The present study aimed to investigate the relationship between NOD1 and NOD2 gene variants and subacute sclerosing panencephalitis. Methods: The gene variants of NOD1 (rs2075820 and rs2075818) and NOD2 (R334Q and R334W) were explored in 64 subacute sclerosing panencephalitis patients and 70 controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: The frequencies of the AA genotype and A allele of rs2075820 (NOD1; c.796G>A) polymorphism were lower in patients compared with controls (P = .022 and .014, respectively). The presence of the A allele of rs2075820 may be considered as a protective factor for subacute sclerosing panencephalitis. There was a significant difference between the groups in rs2075818 (NOD1 G/C) polymorphism, and the CC genotype increased the risk of subacute sclerosing panencephalitis by 3.471-fold. The carriers of the C allele of rs2075818 (G/C) had a 1.855-fold susceptibility to subacute sclerosing panencephalitis (P = .018). The GC genotype might be associated with subacute sclerosing panencephalitis susceptibility in the patients compared with patients without having that haplotype (P = .03). Conclusions: Thus, we identified an association between subacute sclerosing panencephalitis and the rs2075820 (NOD1 G/A) and rs2075818 (NOD1 G/C) polymorphisms. These findings implicate a possible effect of this genetic polymorphism in susceptibility to subacute sclerosing panencephalitis, which needs to be confirmed in bigger populations.

Association of NOD1, NOD2, PYDC1 and PYDC2 genes with Behcet's disease susceptibility and clinical manifestations.

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.