Get Multiple Sclerosis while younger if have a poor CYP24A1 vitamin D gene
The CYP24A1 gene variant rs2762943 is associated with low serum 1,25-dihydroxyvitamin D levels in multiple sclerosis patients
Eur J Neurol . 2023 May 14. doi: 10.1111/ene.15866
Sunny Malhotra # 1, Luciana Midaglia # 1, Omar Chuquisana 2, Nikolaos A Patsopoulos 3 4 5, Roser Ferrer 6, Marina Giralt 6, Nicolas Fissolo 1, Elia Gil-Varea 1, Juan Carlos Triviño 7, Jan D Lünemann 2, Xavier Montalban 1, Manuel Comabella 1
1,25(OH)2 D levels much lower in those with poor CPY24A1
This decrease would not be noticed by a standard Vitamin D test
Background: Vitamin D is considered to play a role in multiple sclerosis (MS) etiopathogenesis. We recently identified a polymorphism in the CYP24A1 gene, rs2762943, that was associated with an increased MS risk. CYP24A1 encodes a protein involved in the catabolism of the active form of vitamin D. We investigated the immunological effects of carrying the rs2762943 risk allele, and its role as genetic modifier.
Methods: Serum levels of 25-hydroxyvitamin D (25OHD) and 1,25-dihydroxyvitamin D (1,25(OH)2 D) were measured in a cohort of 167 MS patients. In a subgroup of patients, expression levels of MHC class II and co-stimulatory molecules were determined by flow cytometry, and serum levels of proinflammatory (IFNG, GM-CSF, CXCL13) and anti-inflammatory (IL-10) cytokines and neurofilament light chain were measured by single-molecule array assays. The effect of the rs2762943 polymorphism on disease activity and disability measures was evaluated in 340 MS patients.
Results: Compared to non-carriers, carriers of the rs2762943 risk allele were characterized by reduced levels of 1,25(OH)2 D (p=0.0001), and elevated levels of IFNG (p=0.03) and GM-CSF (p=0.008), whereas no significant differences were observed for the other markers. The presence of the rs2762943 risk allele had no significant impact on disease activity and disability outcomes during follow-up. However, risk allele carriers were younger at disease onset (p=0.04).
Conclusions: These findings suggest that the CYP24A1 rs2762943 polymorphism plays a more important role on MS susceptibility than on disease prognosis, and is associated with lower 1,25(OH)2 D levels and heightened pro-inflammatory environment in MS patients.
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Multiple Sclerosis has been increasing at younger ages
