FOXP3 and cholesterol 7α-hydroxylase variants: unraveling genetic links to multiple sclerosis and neuromyelitis optica
Abstract Background Multiple sclerosis (MS) and neuromyelitis optica (NMO) are autoimmune demyelinating disorders of the central nervous system. The FOXP3 (rs3761547) and CYP7A1 (rs3808607) polymorphisms together with vitamin D are thought to play a significant role in the pathophysiology of autoimm...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2025-07-01
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| Series: | The Egyptian Journal of Neurology, Psychiatry and Neurosurgery |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s41983-025-01002-2 |
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| Summary: | Abstract Background Multiple sclerosis (MS) and neuromyelitis optica (NMO) are autoimmune demyelinating disorders of the central nervous system. The FOXP3 (rs3761547) and CYP7A1 (rs3808607) polymorphisms together with vitamin D are thought to play a significant role in the pathophysiology of autoimmune disorders. The aim of this study is to investigate the association of FOXP3 (rs3761547), CYP7A1 (rs3808607) genotypes, and serum vitamin D3 levels with MS and NMO susceptibility and clinical findings. This is a case–control study involving 200 subjects (110 MS which was subdivided into 77 relapsing–remitting MS and 33 progressive MS, 30 NMO, 60 controls). FOXP3 genotypes were analyzed via real-time PCR, CYP7A1 polymorphism by PCR–RFLP, and serum vitamin D3 levels by ELISA. Results FOXP3 genotypes showed no significant differences between MS and controls, except for the recessive CC model which was more prevalent in controls (p = 0.043). No significant difference was detected between NMO and controls. The CYP7A1 wild AA genotype and A allele were more frequent in controls than in MS (p = 0.009, p = 0.041) and NMO patients (p = 0.016, p = 0.027). No significant difference detected between MS and NMO or between RRMS and progressive MS regarding FOXP3 and CYP7A1 genotypes. FOXP3 polymorphisms were associated with lesion localization and relapse rates in MS. Conclusions The CYP7A1 polymorphic variant may serve as a susceptibility marker for MS and NMO. While it shows potential as a therapeutic target, further studies are required. FOXP3 polymorphisms may influence clinical features in MS but not disease susceptibility. |
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| ISSN: | 1687-8329 |