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

J Child Neurol. 2023 Feb;38(1-2):38-43. doi: 10.1177/08830738221144081. Epub 2022 Dec 21.

Abstract

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.

Keywords: NOD1 gene; association study; rs2075818; single nucleotide polymorphism; subacute sclerosing panencephalitis.

MeSH terms

  • Genotype
  • Humans
  • Neurodegenerative Diseases*
  • Nod1 Signaling Adaptor Protein / genetics
  • Nod2 Signaling Adaptor Protein / genetics
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Subacute Sclerosing Panencephalitis* / genetics

Substances

  • NOD1 protein, human
  • Nod1 Signaling Adaptor Protein
  • NOD2 protein, human
  • Nod2 Signaling Adaptor Protein