Association of NOD1 and NOD2 Polymorphisms With Susceptibility to Subacute Sclerosing Panencephalitis. (February 2023)

• Record Type: Journal Article
• Authors: Kocaaga, Ayça; Cakmak Genc, Gunes; Karakas Celik, Sevim; Piskin, İbrahim E.; Calik, Mustafa; Dursun, Ahmet
• Is Part Of: Journal of child neurology. Volume 38:Number 1/2(2023)
• Page Start: 38
• Page End: 43
• Publication Date: 2023-02
• Subjects: association study -- NOD1 gene -- single nucleotide polymorphism -- subacute sclerosing panencephalitis -- rs2075818; Nervous system -- Diseases -- Periodicals; 618.928
• DOI: 10.1177/08830738221144081
• Languages: English
• ISSNs: 0883-0738

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.