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 |
|---|
| Section | 一般 |
|---|
| Research Field |
Pediatrics
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|---|
| Research Institution | The University of Tokyo |
|---|
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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| Project Status |
Completed (Fiscal Year 2013)
|
| 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)
|
|---|
| 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 / ゲノム / ビタミンD受容体 |
|---|
| 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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Report
(4 results)
Research Products
(99 results)
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[Journal Article] LMX1B Mutation with Residual Transcriptional Activity as a Cause of Isolated Glomerulopathy.2014
Author(s)
Isojima T, Harita Y, Furuyama M, Sugawara N, Ishizuka K, Horita S, Kajiho Y, Miura K, Igarashi T, Hattori M, Kitanaka S
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Journal Title
Nephrol Dial Transplant
Volume: 29
Issue: 1
Pages: 81-8
DOI
Related Report
Peer Reviewed
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[Journal Article] A recurrent de novo FAM111A mutation causes Kenny–Caffey syndrome type 2.2013
Author(s)
Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S, and Kitanaka S.
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Journal Title
J Bone Mineral Res
Volume: 29
Issue: 4
Pages: 992-998
DOI
Related Report
Peer Reviewed / Open Access
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[Presentation] 日光曝露とくる病
Author(s)
北中幸子
Organizer
第117回日本小児科学会学術集会
Place of Presentation
名古屋（名古屋国際会議場）
Related Report
Invited
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