Akademik Veri Yönetim Sistemi
Diğer Resmi Kurumlarca Desteklenen Proje, 2022 - 2023
Objective:
Multiple sclerosis (MS) is a
complex disease of the central nervous system caused by both genetic and
non-genetic factors. This study aimed to determine whether the interleukin-18
(IL-18) gene promoter polymorphisms -137 G/C, -607 C/A, and -656 G/T are
associated with MS in the Turkish
Patients and Methods: A total of 310 patients with clinically definite MS and
220 healthy controls were included. Genotyping of IL-18 -137 G/C was performed
by allele-specific PCR (AS-PCR), and -607 C/A and -656 G/T were genotyped by
PCR-restriction fragment length polymorphism (PCR-RFLP) using Tru1I and MwoI
enzymes, respectively. PCR products were visualized on agarose gels. Data were
analyzed by the chi-square test to compare genotype and allele frequencies
between groups, and odds ratios (OR) with 95% confidence intervals were
calculated. A p-value <0.05 was considered statistically significant.
Results:
A significant association was found between
IL-18 -137 G/C polymorphism and MS (p<0.001). The GC genotype frequency was
higher in MS patients (51.3%) than in controls (35.5%), while the GG genotype
was lower in MS (42.6% vs 58.6%) (p<0.001). Similarly, the IL-18 -607 C/A
polymorphism showed a significant difference (p<0.001), with the AA genotype
being more frequent in MS patients (19.7%) compared to controls (9.1%).
Carrying the GC genotype at -137 was associated with approximately 2-fold increased
MS risk (OR≈1.99), and the AA genotype at -607 conferred about a 3.25-fold
increased risk. The minor allele frequencies (C for -137 and A for -607) were
significantly higher in patients than controls. In contrast, the IL-18 -656 G/T
polymorphism did not differ significantly between patients and controls in
genotype or allele distribution (p=0.325); the frequency of the T allele was
~37% in MS vs ~36% in controls (p>0.05).
Conclusion:
Our findings indicate that
IL-18 gene -137 G/C and -607 C/A polymorphisms are significantly associated
with MS in the Turkish population, whereas -656 G/T is not. The variant alleles
at -137 and -607 positions appear to confer increased susceptibility to MS.
These results suggest that IL-18 gene polymorphisms may contribute to the
genetic background of MS and could potentially serve as biomarkers for disease
risk, thereby aiding in better understanding of MS pathogenesis and in
developing future diagnostic or therapeutic strategies.
Keywords Multiple Sclerosis; Interleukin-18; Polymorphism; Single
nucleotide polymorphism; Genetic susceptibility