Background: Hypovitaminosis D is reported through the literature to be involved in autoimmune diseases such as multiple sclerosis (MS). In the last decade, numerous studies have investigated the association of single ...Background: Hypovitaminosis D is reported through the literature to be involved in autoimmune diseases such as multiple sclerosis (MS). In the last decade, numerous studies have investigated the association of single nucleotide polymorphisms (SNPs) with MS, including rs2248359 (CYP24A1) and rs703842 (CYP27B1) that are involved in vitamin D metabolic pathway. However, results were conflicting, probably due to ethnic differences between the studied populations. In this context, the present study aimed to analyze the association between these two SNPs and MS within the Moroccan population. Methods: rs2248359 and rs703842 were genotyped in 113 patients and 146 healthy controls. To assess their association with the disease risk, we compared the genotypic and allelic frequencies between the study groups. We also explored their possible influence on certain clinical features (age at onset, type, disability status and severity score) and with vitamin D3 serum level (DSL) by comparing mean values of these variables between the different genotypes. Results: No statistically significant differences in the distribution of both SNPs were found between patients and controls. A trend has emerged concerning the minor G allele of rs703842 which appears to have a protective effect on developing MS, but this result remained slightly below significance. Also, the two polymorphisms had no impact on the clinical features tested and the DSL. Conclusion: There is no convincing evidence that rs2248359 and rs703842 are associated with MS risk, its clinical features or vitamin D level in Moroccans. Further larger investigations are needed to confirm these findings.展开更多
文摘Background: Hypovitaminosis D is reported through the literature to be involved in autoimmune diseases such as multiple sclerosis (MS). In the last decade, numerous studies have investigated the association of single nucleotide polymorphisms (SNPs) with MS, including rs2248359 (CYP24A1) and rs703842 (CYP27B1) that are involved in vitamin D metabolic pathway. However, results were conflicting, probably due to ethnic differences between the studied populations. In this context, the present study aimed to analyze the association between these two SNPs and MS within the Moroccan population. Methods: rs2248359 and rs703842 were genotyped in 113 patients and 146 healthy controls. To assess their association with the disease risk, we compared the genotypic and allelic frequencies between the study groups. We also explored their possible influence on certain clinical features (age at onset, type, disability status and severity score) and with vitamin D3 serum level (DSL) by comparing mean values of these variables between the different genotypes. Results: No statistically significant differences in the distribution of both SNPs were found between patients and controls. A trend has emerged concerning the minor G allele of rs703842 which appears to have a protective effect on developing MS, but this result remained slightly below significance. Also, the two polymorphisms had no impact on the clinical features tested and the DSL. Conclusion: There is no convincing evidence that rs2248359 and rs703842 are associated with MS risk, its clinical features or vitamin D level in Moroccans. Further larger investigations are needed to confirm these findings.
