Polymorphisms in proinflammatory cytokines genes and susceptibility to Multiple Sclerosis
Noha M Bakr1, Noha A Hashim2, Hatim Alaa El-Din El-Baz1
1Biochemistry Department, Genetic Engineering and Biotechnology Research Division, National Research Centre (NRC), Giza, Egypt.
Multiple Sclerosis and Related Disorders
|December 10, 2020
Summary
Genetic variations in tumor necrosis factor-alpha (TNF-α) are linked to multiple sclerosis (MS) severity and disability progression. Interleukin-18 (IL-18) gene polymorphisms may influence MS susceptibility in Egyptians.
Area of Science:
- Genetics
- Immunology
- Neurology
Background:
- Multiple sclerosis (MS) is a chronic CNS inflammatory and neurodegenerative disorder.
- Genetic susceptibility and proinflammatory cytokines are implicated in MS pathogenesis.
- Investigating gene polymorphisms offers insights into MS susceptibility and clinical course.
Purpose of the Study:
- To analyze the association between IL-16, TNF-α, and IL-18 gene polymorphisms and MS susceptibility and clinical features in an Egyptian cohort.
- To determine the role of specific genetic variations in the development and progression of MS.
- To identify potential genetic markers for MS severity and disability.
Main Methods:
- Genotyping of IL-16 (rs4072111 C/T), TNF-α -308 G/A (rs1800629 G/A), and IL-18 -607 C/A (rs1946518 C/A) polymorphisms in 150 subjects (93 MS patients, 57 healthy controls).
- Utilized polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for IL-16 and TNF-α.
- Employed allele-specific polymerase chain reaction (AS-PCR) for IL-18.
Main Results:
- IL-16 (rs4072111 C/T) polymorphism was non-polymorphic in the study cohort.
- TNF-α-308 G/A (rs1800629 G/A) polymorphism was associated with increased MS severity and disability (EDSS, MSSS), but not susceptibility.
- IL-18-607 C/A (rs1946518 C/A) polymorphism showed significant differences between MS patients and controls, suggesting a role in susceptibility.
Conclusions:
- The TNF-α-308 AA genotype and A allele may be linked to MS disability progression and severity.
- The IL-18-607 AA genotype and A allele could be associated with MS susceptibility in the Egyptian population.
- These findings highlight the potential role of specific cytokine gene polymorphisms in MS.
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