Association of vitamin D metabolism enzyme gene polymorphisms with multiple sclerosis risk: pilot study

Abstract

To evaluate the association polymorphisms in genes coding for enzymes involved in vitamin D metabolism CYP27B1 (rs703842) and CYP24A1 (rs2248359) with the risk of multiple sclerosis (MS). Ninety Caucasian patients with remitting MS and 87 volunteers without MS, born and living in the Altai region of Russia, participated in the study. Genotyping was performed by the TaqMan probe method. No association of MS with genotypes or alleles of CYP24A1 (rs2248359) is found. CYP27B1C (rs703842) is associated with the risk of MS in women. The TC genotype CYP27B1C (rs703842) is associated with an increased risk of MS (Odd Ratio 3.43; 1.48-7.93, p=0.004), while the TT genotype, on the contrary, has a protective effect on the susceptibility to MS (Odd Ratio 0.31; 0.14-0.72, p=0.005). The results indicate an increased risk of MS in female carriers of the TC genotype CYP27B1 (rs703842) and a low probability of the contribution of the CYP24A1 polymorphism (rs2248359) to the predisposition to MS in Caucasians of the Altai region.