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Matrix metalloproteases 9 rs3918242 gene polymorphism and serum vit D in MS Egyptian patients
Iman Ibrahim1, Mona El Wassefy2, Shereen Salah Metwally1
1Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Abstract:
The high frequency of MS, especially among women in the Middle East countries as well as the high cost of caring has become a truly public concern. T-cell trafficking across the interrupted BBB, which constitutes a core immunological feature of the disease, needs activation of matrix metallo-proteinases. MMP-9 (which represents the largest and most complex of MMP family) was a subject for functional polymorphism of rs3918242 gene, but with controversial results among different MS ethnic groups. In this study, we evaluated the role of MMP9 genotypes of rs3918242 (-1562 C/T) in MS susceptibility and disability among patients using PCR-RFLP. Vitamin D assessment using ELISA, as an indirect indicator of MMP activity and proinflammatory status, was also measured to find out its relation to this polymorphism. Results: CT, CT+TT genotypes and T allele carriers were found most among MS patients as compared to healthy controls with a P value of 0.009 CI (1.216- 4.346), suggesting higher susceptibility risk for the disease. Also a significant decrease of Vitamin D in MS group (P < 0.001) were detected. Though this genetic polymorphism was found insignificantly among different clinical measures of MS disease severity, vitamin D level was significantly lower in patients with RRMS and for those with high disabilities. This low level was not influenced by the -1562 C/T polymorphism. In conclusion, MMP9 genotypes of rs3918242 have a role in MS susceptibility, but not with severity. Vitamin D deficiency was also a predominant feature among all MS patients irrespective of their MMP9 genotypes of rs3918242, implying its association with MS activity in different courses of the disease. The gentic susceptibility for MS disease is growing and needs to be studied well in different ethnic groups for their important diagnostic and therapeutic implications.
Insights
Matrix metalloproteinase-9 (MMP9) gene variants (rs3918242) may increase susceptibility to multiple sclerosis (MS). Vitamin D deficiency is common in MS patients, regardless of MMP9 genotype.
Area of Science:
- Immunogenetics
- Neuroimmunology
- Biochemistry
Background:
- Multiple Sclerosis (MS) is a significant public health concern, particularly in the Middle East, with high prevalence among women.
- T-cell trafficking across the blood-brain barrier (BBB) is a key immunological feature of MS, involving matrix metalloproteinases (MMPs).
- MMP-9, a complex MMP, has a functional polymorphism (rs3918242) with debated implications in MS across different ethnic groups.
Purpose of the Study:
- To investigate the association between MMP9 genotypes (rs3918242) and susceptibility to MS.
- To evaluate the relationship between MMP9 genotypes and MS disease severity and disability.
- To assess Vitamin D levels as an indicator of MMP activity and inflammation in MS patients and correlate it with the MMP9 polymorphism.
Main Methods:
- Genotyping of the MMP9 rs3918242 (-1562 C/T) polymorphism using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP).
- Quantification of Vitamin D levels using Enzyme-Linked Immunosorbent Assay (ELISA).
- Statistical analysis to compare genotype frequencies and Vitamin D levels between MS patients and healthy controls, and to correlate findings with clinical parameters.
Main Results:
- CT, CT+TT genotypes, and T allele carriers of MMP9 rs3918242 were significantly more prevalent in MS patients than in controls (P=0.009), indicating higher susceptibility.
- MS patients exhibited significantly lower Vitamin D levels compared to healthy controls (P<0.001).
- MMP9 polymorphism did not correlate with clinical measures of MS severity, but lower Vitamin D levels were observed in patients with Relapsing-Remitting MS (RRMS) and higher disability, independent of genotype.
Conclusions:
- The MMP9 rs3918242 polymorphism plays a role in MS susceptibility but not in disease severity.
- Vitamin D deficiency is a prevalent characteristic in MS patients, irrespective of their MMP9 genotype, suggesting a broader association with MS activity.
- Further research in diverse ethnic groups is warranted for the diagnostic and therapeutic implications of genetic susceptibility in MS.
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