ArticlePloS one2025
Investigating genetic links of vitamin D metabolism pathway genes (CYP2R1, CYP27B1, CYP24A1, and DBP) in Multiple Sclerosis patients.
Article in PloS one, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Multiple sclerosis (MS) is believed to result from a complex interplay of behavioral, genetic, and environmental risk factors. Furthermore, some studies indicated that vitamin D deficiency is linked to the emergence of different diseases, including MS. This study aims to determine the genetic associations between vitamin D metabolism gene polymorphisms and MS susceptibility in the Jordanian community. A total of 388 samples (192 MS patients and 196 controls). Genotypes for CYP2R1 (rs10741657, rs12794714), CYP27B1 (rs10877012), CYP24A1 (rs2248359), and DBP (rs7041, rs4588) were determined by PCR/RFLP assay method. The study revealed a significant association with increased MS risk in SNPs rs10877012 (C/A, P = 0.0002) of the CYP27B1 gene and rs4588 (A/A, P = 0.04) of the DBP gene. Additionally, the haplotypes of the CYP2R1 gene revealed a significant association with MS patients and controls (GG, p = 1e-04; AA, p < 0.0001). Moreover, only a SNP rs4588 of the DBP gene has been significantly associated (P = 0.04) with a clinical phenotype of multiple sclerosis and vitamin D deficiency. Understanding these genetic variations in multiple sclerosis susceptibility genes can help healthcare professionals improve early diagnosis and develop personalized treatment options.
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