Key genetic variants with multiple sclerosis risk in Egyptian patients | ||
| Egyptian Pharmaceutical Journal | ||
| Articles in Press, Corrected Proof, Available Online from 26 October 2025 | ||
| Document Type: Original Article | ||
| DOI: 10.21608/epj.2025.395413.1127 | ||
| Authors | ||
| Tamer H. A. Ammar1; Haidy Elshebawy2; Khaled Hamed3; Eman E.A. Mohammed* 1; Hazem Mohamed El-Hariri4; Hala T. El-Bassyouni3 | ||
| 1Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt. | ||
| 2Neurology Department, Faculty of Medicine, Cairo University, Cairo, Egypt. | ||
| 3Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt. | ||
| 4Community Medicine Department, Medical Research and Clinical Studies Institute, National Research Centre, Cairo, Egypt. | ||
| Abstract | ||
| Background Multiple sclerosis (MS) is an autoimmune demyelinating disease that affects the central nervous system (CNS) and is becoming more prevalent globally. The interaction between genetic predisposition and environmental factors plays a significant role in the etiopathogenesis of MS. Objectives The study aims to investigate the association between MS likelihood in the Egyptian population and the EVI5 rs11808092, GSTT1 null, and HindIII C>G PAI-1 POLYMORPHISMs. This cohort included 50 multiple sclerosis patients and 100 healthy controls matching age and gender. Results The 50 MS patients (35 females and 15 males) had a mean age of 36.0±6.6 years and 100 healthy controls. The two groups were matched regarding age and sex; the p-value was above 0.05. The types of multiple sclerosis were relapsing-remitting multiple sclerosis (56.0%), secondary progressive multiple sclerosis (38.0%), primary progressive multiple sclerosis (6.0%), and Expanded Disability Status Scale (EDSS). The HindIII C>G PAI-1 GC and rs11808092 AA and A allele were significantly more frequent in the multiple sclerosis group. No statistically significant association was detected between the type of multiple sclerosis and the studied polymorphisms. Conclusion Multiple sclerosis results from environmental, genetic, and epigenetic factors. This study found that the HindIII C>G PAI-1 GC genotype, the rs11808092 AA genotype, and the A allele are strongly associated with an increased risk of multiple sclerosis. However, no correlation was observed between the GSTT1 null polymorphism and susceptibility to MS risk. | ||
| Keywords | ||
| Autoimmune Disease; Multiple Sclerosis; GSTT1 gene; HindIII C>G PAI-1 GC; rs11808092 AA; A allele | ||
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