Neurofilament light chain gene polymorphism and risk of multiple sclerosis in Iranian patients

Document Type: Research Paper


1 Department of Biology, Faculty of Engineering, Science and Arts University, Yazd, Iran

2 Department of Genetics, Faculty of Biological Sciences, Tehran North Branch, Islamic Azad University, Tehran, Iran

3 Neurologist, Membership of Scientific Communication of Iranian Multiple Sclerosis Society, Tehran, Iran

4 Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran


Background: Multiple sclerosis (MS) is a chronic disease characterized by inflammation and degeneration of the central nervous system (CNS). High levels of neurofilament light chain (NFL) and neurofilament heavy chain (NFH) in cerebrospinal fluid (CSF) have been associated with a wide range of neurological diseases including MS.

Subjects and Methods: Peripheral blood samples were collected from 40 relapsing remitting multiple sclerosis (RRMS) patients and 40 healthy control subjects to extract genomic DNA. Genotyping was performed by polymerase chain reaction (PCR) and sequencing technique. Genotypic and allelic distributions were compared between cases and controls. Logistic regression was used to estimate the risk of MS associated with selected SNP.

Results: The results of the present study revealed that there were significant differences in the distribution of neurofilament light gene (NEFL) genotypes and allele frequencies between Iranian RRMS patients and controls. In Iranian RRMS patients, there was a significant association between NEFL gene polymorphism rs2979687 and the risk of MS.

Conclusion: Our data indicate that there was a significant association between -374A>G NEFL gene polymorphism and risk of MS in Iranian patients. Probably, we can use it as a potential prognostic genetic marker. Further large prospective studies are required to confirm these findings.


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