Protection from type 1 diabetes by vitamin D receptor haplotypes
| Autor: | Vytautas Ivaskevicius, Elizabeth Ramos-Lopez, Christian Klepzig, Johannes Oldenburg, Klaus Badenhoop, Thomas Jansen, Heinrich Kahles |
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| Rok vydání: | 2006 |
| Předmět: |
Male
medicine.medical_specialty Biology Calcitriol receptor Polymorphism Single Nucleotide General Biochemistry Genetics and Molecular Biology Immune system History and Philosophy of Science Calcitriol Diabetes mellitus Internal medicine Genotype medicine Vitamin D and neurology Humans Receptor Child Calcifediol Type 1 diabetes Polymorphism Genetic General Neuroscience Haplotype Genetic Variation medicine.disease Endocrinology Diabetes Mellitus Type 1 Haplotypes Receptors Calcitriol Female |
| Zdroj: | Annals of the New York Academy of Sciences. 1079 |
| ISSN: | 0077-8923 |
| Popis: | Vitamin D has been involved in the modulation of calcium and bone metabolism as well as in the immune system, where it suppresses the proliferation of activated T cells. These effects are exerted via the vitamin D receptor (VDR). Polymorphisms within this gene have been exhaustively studied in diverse autoimmune diseases but with inconsistent results. We previously reported a positive association of polymorphisms within the VDR gene (Apa I, Taq I, Bsm I, and Fok I). In the present article we extended our previous reports to seven additional polymorphisms (rs757343, rs9729, rs2853559, rs1989969, rs3847987, rs2238135, and rs4516035) in a larger set of German simplex type 1 diabetes families. Additionally we correlated serum levels of 25(OH)D(3) and 1,25(OH)(2)D(3) with VDR genotypes and haplotypes. The haplotypes "CG" (Taq I-Apa I), "CGG" (Taq I-Apa I-Tru I), "CGC" (Taq I-Apa I-Fok I), "GCTG" (rs9729-Taq I-Apa I-Tru I), and "CGGC"(Taq I-Apa I, Tru I, Fok I) were less often transmitted, thus negatively associated with type 1 diabetes. Patients who carried the genotype "CC" of the rs3847987 polymorphism had higher median serum levels of 25(OH)D(3). Furthermore, the majority of patients with this genotype possessed normal serum levels of 25(OH)D(3). We conclude that variants of the VDR may confer a genetic protection from type 1 diabetes. Furthermore, normal serum levels of 25(OH)D(3) appear to correlate with a VDR genotype. This supports a role of vitamin D in the immune pathogenesis of type 1 diabetes. |
| Databáze: | OpenAIRE |
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