Protection from type 1 diabetes by vitamin D receptor haplotypes.
作者： E. RAMOS-LOPEZ , T. JANSEN , V. IVASKEVICIUS , H. KAHLES , C. KLEPZIG
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摘要: Vitamin D has been involved in the modulation of calcium and bone metabolism as well immune system, where it suppresses proliferation activated T cells. These effects are exerted via vitamin receptor (VDR). Polymorphisms within this gene have exhaustively studied diverse autoimmune diseases but with inconsistent results. We previously reported a positive association polymorphisms VDR (Apa I, Taq Bsm Fok I). In present article we extended our previous reports to seven additional (rs757343, rs9729, rs2853559, rs1989969, rs3847987, rs2238135, rs4516035) larger set German simplex type 1 diabetes families. Additionally correlated serum levels 25(OH)D(3) 1,25(OH)(2)D(3) genotypes haplotypes. The haplotypes "CG" (Taq I-Apa I), "CGG" I-Tru "CGC" I-Fok "GCTG" (rs9729-Taq "CGGC"(Taq Tru I) were less often transmitted, thus negatively associated diabetes. Patients who carried genotype "CC" rs3847987 polymorphism had higher median 25(OH)D(3). Furthermore, majority patients possessed normal conclude that variants may confer genetic protection from appear correlate genotype. This supports role pathogenesis
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