Confirmation of association between multiple sclerosis and CYP27B1

摘要: Multiple sclerosis, MS (OMIM No. 126200), is a complex inflammatory disease that characterized by lesions in the central nervous system. Both genes and other environmental factors influence susceptibility. One of has been implicated autoimmune disease, such as type 1 diabetes, vitamin D deficiency, which patients have lower levels 25-hydroxyvitamin D3 (25-OHD3) blood than do controls. Previtamin produced skin, turned into 25-OHD3 liver. In kidney, skin immune cells, bioactive 1,25(OH)2D3 enzyme coded CYP27B1 (cytochrome P450 family 27 subfamily B peptide 1) on chromosome 12q13.1–3. binds to receptor, expressed T cells antigen-presenting cells. suppressive role adaptive system, decreasing T-cell dendritic cell maturation, proliferation differentiation, shifting balance between T-helper (Th1) Th2 favor increasing function regulatory Rs703842 12q13–14 region was associated with recent study Australian New Zealand Sclerosis Genetics Consortium (ANZgene). We show associations three SNPs this our Swedish materials (2158 cases, 1759 controls) rs4646536, rs10877012 rs10877015 (P=0.01, 0.01 3.5 × 10−3, respectively). imputed rs703842 SNP performed joint analysis ANZgene results, reaching significant association for (P=5.1 10−11; odds ratio 0.83; 95% confidence interval 0.79–0.88). Owing its close 25-OHD3, results lend further support pathology.