| Budget Amount *help |
¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2013: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2012: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2011: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Research Abstract |
Vitamin D deficiency resulting in hypocalcemic seizures or rickets in children is increasing due to an insufficient intake of vitamin D and a lack of sunshine exposure. The prevalence of vitamin D deficiency is low compared to the large number of breastfed children with low serum levels of 25OHD. In this study, we analyzed the genetic predisposition for the onset of vitamin D deficiency. We analyzed polymorphisms in vitamin D related genes in patients with vitamin D deficiency and controls in Japan. We found differences in the polymorphisms or haplotype of VDR, GC, and NADSYN1 genes, suggesting that genetic factors may predispose to vitamin D deficiency to some extent. We further detected congenital rickets in some patients clinically presenting as vitamin D deficiency. Gene analysis may be very useful in the diagnosis of rickets.
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