Journal of neuroimmunology · 2025
Serum levels of tumor necrosis factor and TNFRSF1A gene polymorphisms in Egyptian multiple sclerosis patients: the influence on susceptibility and severity.
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Naseer Maged Abdel, Hegazy Montasser, El-Mehdawy Karim M, Ashraf Hala, Shawky Ahmed, Fouad Amr Mohamed
Аннотация
INTRODUCTION: Multiple sclerosis (MS) is an autoimmune demyelinating disease of the central nervous system that is caused by a complex interplay of genetic, epigenetic, and environmental factors.
OBJECTIVES: To investigate the relationship between serum levels of TNF and TNFRSF1A gene polymorphisms and their impact on the risk and severity of MS.
METHODS: This case-control study included fifty patients with multiple sclerosis, both familial and non-familial, and fifty healthy matched controls. Molecular analysis of TNFRSF1A gene variants (rs1800693) was performed using TaqMan Real-Time PCR, and TNF serum levels were measured using ELISA.
RESULTS: The frequency of the (C/C) genotype was significantly higher in patients (16 %) compared to controls (2 %). Additionally, the frequency of the (C) allele in TNFRSF1 (rs1800693) was significantly higher in patients (17 %) than in controls (2 %). The median serum TNF level was significantly higher in controls (79.99 Pg/ml, IQR: 67.39 to 434.48) compared to MS patients (67.93 Pg/ml, IQR: 57.15 to 80.79). Furthermore, the serum TNF level was significantly lower in patients with TNFSF1A gene variants C/C and C/T with a median of 56.31 Pg/ml (IQR: 48.84 to 73.9) compared to patients with TNFSF1A gene variant T/T with a median of 69.26 Pg/ml (IQR: 58.7 to 85.08). A significant negative correlation was found between serum TNF and EDSS in MS patients (r = -0.28, p value = 0.04).
CONCLUSION: The rs1800693 SNP (C/C) variant is a significant factor in the development of MS. Additionally, the reduced serum TNF levels observed in the carriers of the C allele may contribute to disease pathogenesis.
OBJECTIVES: To investigate the relationship between serum levels of TNF and TNFRSF1A gene polymorphisms and their impact on the risk and severity of MS.
METHODS: This case-control study included fifty patients with multiple sclerosis, both familial and non-familial, and fifty healthy matched controls. Molecular analysis of TNFRSF1A gene variants (rs1800693) was performed using TaqMan Real-Time PCR, and TNF serum levels were measured using ELISA.
RESULTS: The frequency of the (C/C) genotype was significantly higher in patients (16 %) compared to controls (2 %). Additionally, the frequency of the (C) allele in TNFRSF1 (rs1800693) was significantly higher in patients (17 %) than in controls (2 %). The median serum TNF level was significantly higher in controls (79.99 Pg/ml, IQR: 67.39 to 434.48) compared to MS patients (67.93 Pg/ml, IQR: 57.15 to 80.79). Furthermore, the serum TNF level was significantly lower in patients with TNFSF1A gene variants C/C and C/T with a median of 56.31 Pg/ml (IQR: 48.84 to 73.9) compared to patients with TNFSF1A gene variant T/T with a median of 69.26 Pg/ml (IQR: 58.7 to 85.08). A significant negative correlation was found between serum TNF and EDSS in MS patients (r = -0.28, p value = 0.04).
CONCLUSION: The rs1800693 SNP (C/C) variant is a significant factor in the development of MS. Additionally, the reduced serum TNF levels observed in the carriers of the C allele may contribute to disease pathogenesis.