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Multiple sclerosis (MS) is a chronic disease characterized by degeneration of the central nervous system (CNS). High levels of Neurofilament heavy chain (NEFH) in cerebrospinal fluid (CSF) is associated with MS. 40 MS patients and 40 controls genotyped by polymerase chain reaction (PCR) and Sanger sequencing. Genotypic and allelic distributions were compared between cases and controls. Fisher test was used to estimate the risk of MS associated with genotypes. We showed that NEFH, 1084-244G>A gene polymorphism, has no significant association with the susceptibility or severity of MS in Iranian patients (P = 0.737). Further prospective studies are required for confirmation.

Background and aims: Multiple sclerosis (MS) is a chronic disease characterized by inflammation and degeneration of the central nervous system (CNS). The high level of neurofilament (NF) heavy chain (NEFH) in cerebrospinal fluid (CSF) has been reported to be associated with MS. The aim of the present study was to determine the association between NEFH rs3815335 polymorphism and risk of MS. Materials and Methods: A total of 40 MS patients and 40 controls were genotyped by polymerase chain reaction (PCR) and Sanger sequencing. Genotypic and allelic distributions were compared between cases and controls. Fisher’s exact test was used to estimate the risk of MS based on genotypes in SPSS version 22.0. Results: No significant difference was observed in the distribution of NEFH genotypes and allele frequencies between patients and controls (P=0.737). Conclusion: Our data indicated that NEFH, 1084-244G>A gene polymorphism, has no significant association with the susceptibility or severity of MS in Iranian patients. Further prospective studies are required for confirmation. [ABSTRACT FROM AUTHOR]