A single nucleotide polymorphism within Ninjurin 2 is associated with risk of multiple sclerosis

• Published in: Metabolic brain disease Vol. 34; no. 5; pp. 1415 - 1419
• Main Authors: Noroozi, Rezvan, Azari, Iman, Taheri, Mohammad, Omrani, Mir Davood, Ghafouri-Fard, Soudeh
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.10.2019; Springer Nature B.V
• Subjects: Adolescent; Adult; Aged; Alleles; Axonogenesis; Biochemistry; Biomedical and Life Sciences; Biomedicine; Case-Control Studies; Cell Adhesion Molecules, Neuronal - genetics; Central nervous system; Female; Gene Frequency; Gene polymorphism; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Genotypes; Humans; Inflammatory diseases; Iran; Lesions; Male; Metabolic Diseases; Middle Aged; Multiple sclerosis; Multiple Sclerosis - genetics; Myelin; Myelination; Neurology; Neurosciences; Nucleotides; Oncology; Original Article; Pathogenesis; Polymorphism; Polymorphism, Single Nucleotide; Proteins; Regeneration; Risk; Schwann cells; Sheaths; Single-nucleotide polymorphism; Young Adult; Iran; Multiple sclerosis; Ninjurin 2; NINJ2
• ISSN: 0885-7490; 1573-7365; 1573-7365
• DOI: 10.1007/s11011-019-00460-x

Multiple sclerosis (MS) is a devastating inflammatory disease of the central nervous system (CNS) associated with loss of myelin sheaths. The role of Schwan cells in the remyelination of MS lesions has been documented. However, the detailed steps of this process are unknown. Ninjurin 2 ( NINJ2 ) encodes an adhesion protein with high expression in Schwann cells adjoining the distal piece of injured nerve. Based on the role of this protein in neurite outgrowth, it might participate in the process of nerve regeneration after nerve damage. In the present study, we genotyped two NINJ2 single nucleotide polymorphisms (SNPs) namely rs11833579 and rs3809263 in a population of Iranian patients with MS as well as healthy individuals. The frequency of T allele of the rs3809263 was significantly higher in MS patients compared with healthy subjects (OR (95% CI) = 1.33 (1.08–1.63), adjusted P value = 0.01). TT genotype of this SNP was associated with MS risk compared with CC genotype (OR (95% CI) = 2.22 (1.37–3.57), adjusted P value = 0.009). Moreover, the rs3809263 was associated with MS risk in recessive model (OR (95% CI) = 2.09 (1.33–3.31), adjusted P value = 0.003). There were no significant difference in the alleles and genotypes frequencies of rs11833579 between cases and controls. The current research suggests contribution of NINJ2 in the pathogenesis of MS and warrants further studies for elaboration of the underlying mechanism of such contribution.