2013 Fiscal Year Final Research Report
Association of vitamin D-related gene polymorphism with vitamin D deficiency.
| Project/Area Number |
23591489
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | The University of Tokyo |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
ISOJIMA Tsuyoshi 東京大学, 医学部附属病院, 助教 (00568230)
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| Project Period (FY) |
2011 – 2013
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| Keywords | ビタミンD欠乏症 / くる病 / 疾患感受性遺伝子 / 遺伝子多型 |
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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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