Identification and characterization of susceptible genes to type 1 diabetes using in the clustered family
Project/Area Number |
26461348
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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 | Kindai University |
Principal Investigator |
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Co-Investigator(Kenkyū-buntansha) |
池上 博司 近畿大学, 医学部, 教授 (20221062)
能宗 伸輔 近畿大学, 医学部, 講師 (90460849)
馬場谷 成 近畿大学, 医学部, 講師 (10449837)
廣峰 義久 近畿大学, 医学部, 講師 (30460851)
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Research Collaborator |
MAEGAWA Hiroshi 滋賀医科大学, 医学部, 教授 (00209363)
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Project Period (FY) |
2014-04-01 – 2017-03-31
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Project Status |
Completed (Fiscal Year 2016)
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Budget Amount *help |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2016: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2015: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2014: ¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000)
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Keywords | 1型糖尿病 / 遺伝因子 / 1型糖尿病 / 遺伝子 |
Outline of Final Research Achievements |
More than 50 genetic loci have been associated with type 1 diabetes in multiple studies among Caucasian populations, but they have been able to explain only 70-80% of the heritability for type 1 diabetes. Rare variants with high permeability are likely to explain a part of the remaining missing heritability. In Japan, where the prevalence of type 1 diabetes is very low, it is extremely rare for type 1 diabetes to develop in three or more siblings within a family. We found a family, in which type 1 diabetes occurred in three siblings among four sisters and the fourth sister was positive for GAD antibody but had not developed diabetes. To search the rare causative genetic variants, we performed whole-exome sequencing, using parents and four sisters. We narrowed down all exome variants to 11 candidate variants. Moreover, we performed whole-genome linkage analysis. By combining whole-exome sequencing and linkage analysis, we extracted one locus as candidate regions to type 1 diabetes.
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Report
(4 results)
Research Products
(20 results)
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[Journal Article] Risk factors of sudden death and cardiac arrest at the onset of fulminant type 1 diabetes mellitus.2016
Author(s)
Yamaguchi aden MY, Imagawa A, Iwahashi H, Shimomura I, Awata T, Ikegami H, Uchigata Y, Osawa H, Kajio H, Kawasaki E, Kawabata Y, Shimada A, Takahashi K, Tanaka S, Yasuda K, Yasuda H, Kobayashi T, Hanafusa T
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Journal Title
Diabetology Int
Volume: なし
Issue: 3
Pages: 281-288
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Clinical and Genetic Characteristics of Non-Insulin-Requiring Glutamic Acid Decarboxylase (GAD) Autoantibody-Positive Diabetes: A Nationwide Survey in Japan2016
Author(s)
Yasui J, Kawasaki E, Tanaka S, Awata T, Ikegami H, Imagawa A, Uchigata Y, Osawa H, Kajio H, Kawabata Y, Shimada A, Takahashi K, Yasuda K, Yasuda H, Hanafusa T, Kobayashi T, Japan Diabetes Society Committee on Type 1 Diabetes Mellitus Research
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Journal Title
PLoS ONE
Volume: 11
Issue: 5
Pages: 1-12
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Organ specificity in autoimmune diseases: thyroid and islet autoimmunity in alopecia areata.2015
Author(s)
Noso S, Park C, Babaya N, Hiromine Y, Harada T, Ito H, Taketomo Y, Oiso N, Kawada A, Suzuki T, Kawabata Y, Ikegami H
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Journal Title
J Clin Endocrinol Metab
Volume: 100
Issue: 5
Pages: 1976-1983
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] Low PD-1 expression in peripheral CD4+ T-cells in Japanese patients with autoimmune type 1 diabetes.2015
Author(s)
Fujisawa R, Haseda F, Tsutsumi C, Hiromine Y, Noso S, Kawabata Y, Mitsui S, Terasaki J, Ikegami H, Imagawa A, Hanafusa T.
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Journal Title
Clin Exp Immunol
Volume: Feb 12
Issue: 3
Pages: 452-457
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Organ-specificity in autoimmune diseases: thyroid and islet autoimmunity in alopecia areata.2015
Author(s)
Noso S, Park C, Babaya N, Hiromine Y, Harada T, Ito H, Taketomo Y, Kanto K, Oiso N, Kawada A, Suzuki T, Kawabata Y, Ikegami H
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Journal Title
J Clin Endocrinol Metab
Volume: Mar3
Related Report
Peer Reviewed
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[Journal Article] Diagnostic criteria for acute-onset type 1 diabetes mellitus (2012): Report of the Committee of Japan Diabetes Society on the Research of Fulminant and Acute-onset Type 1 Diabetes Mellitus.2014
Author(s)
Kawasaki E, Maruyama T, Imagawa A, Awata T, Ikegami H, Uchigata Y, Osawa H, Kawabata Y, Kobayashi T, Shimada A, Shimizu I, Takahashi K, Nagata M, Makino H, Hanafusa T
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Journal Title
J Diabetes Investig
Volume: 5
Issue: 1
Pages: 115-118
DOI
NAID
Related Report
Peer Reviewed / Open Access
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