Identification of novel susceptibility variants to type 1 diabetes by a next-generation sequencing
Project/Area Number |
23591321
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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 |
Metabolomics
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Research Institution | Saitama Medical University |
Principal Investigator |
AWATA TAKUYA 埼玉医科大学, 医学部, 教授 (40184303)
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Co-Investigator(Renkei-kenkyūsha) |
KURIHARA Susumu 埼玉医科大学, 医学部, 准教授 (90286104)
MORITA Tomoko 埼玉医科大学, 医学部, 講師 (40348214)
IIZUKA Hiroyuki 埼玉医科大学, 医学部, 助教 (20348246)
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Project Period (FY) |
2011 – 2013
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Project Status |
Completed (Fiscal Year 2013)
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Budget Amount *help |
¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2013: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2012: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2011: ¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
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Keywords | 1型糖尿病 / 疾患感受性遺伝子 / SNP / バリアント / GLIS3 / 日本人 / 1型糖尿病 / 感受性 / variant |
Research Abstract |
In Japanese, HLA class II is a very strong susceptibility factor, and the insulin gene is another confirmed susceptible locus to type 1 diabetes (T1D). We have also obtained evidence for an association with several non-HLA loci. However, it was revealed that the cumulative effect of these non-HLA susceptibility loci was much weaker than that of the HLA class II loci. Thus, in the present study, we analyzed low-frequency variants of the non-HLA T1D candidate genes in Japanese. We first screened for protein-changing variants of 24 T1D candidate genes and then the association with T1D was tested in 706 T1D patients and 863 control subjects. In total, 56 protein-changing variants were discovered; among them, 34 were low-frequency variants. The association analysis of the low-frequency variants revealed that only the A908V variant of GLIS3 was strongly associated with resistance to T1D. This is the first report on association of low-frequency variants with T1D in non-white populations.
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Report
(4 results)
Research Products
(16 results)
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[Journal Article] A low-frequency GLIS3 variant associated with resistance to Japanese type 1 diabetes2013
Author(s)
Awata T, Yamashita H, Kurihara S, Morita-Ohkubo T, Miyashita Y, Katayama S, Kawasaki E, Tanaka S, Ikegami H, Maruyama T, Shimada A, Takahashi K, Kawabata Y, Kobayashi T, Nishida N, Mawatari Y
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Journal Title
Biochem Biophys Res Commun
Volume: 437
Pages: 521-525
Related Report
Peer Reviewed
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[Journal Article] Diagnostic criteria for acute-onset type 1 diabetes mellitus (2012)2013
Author(s)
Eiji Kawasaki, Taro Maruyama, Akihisa Imagawa, Takuya Awata, Hiroshi Ikegami, Yasuko Uchigata, Haruhiko Osawa, Yumiko Kawabata, Tetsuro Kobayashi, Akira Shimada, Ikki Shimizu, Kazuma Takahashi, Masao Nagata, Hideichi Makino, Toshiaki Hanafusa
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Journal Title
J Diabetes Invest
Volume: 4
Issue: 4
Pages: 221-225
DOI
Related Report
Peer Reviewed
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[Presentation] A rare GLIS3 variant associated with resistance to type 1 diabetes2012
Author(s)
Takuya Awata, Susumu Kurihara, Tomoko Morita-Ohkubo, Yumi Miyashita, Eiji Kawasaki, Hiroshi Ikegami, Shoichiro Tanaka, Taro Maruyama, Akira Shimada, Kazuma Takahashi, Yumiko Kawabata, Tetsuro Kobayashi.
Organizer
The 48th Annual Meeting of the European Association for the Study of Diabetes (EASD)
Place of Presentation
Berlin, Germany
Year and Date
2012-10-04
Related Report
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