2013 Fiscal Year Final Research Report
Search for novel MODY genes with exome sequencing
| Project/Area Number |
23591319
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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 |
Metabolomics
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| Research Institution | Wakayama Medical University |
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Principal Investigator |
FURUTA Hiroto 和歌山県立医科大学, 医学部, 准教授 (90238684)
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| Project Period (FY) |
2011 – 2013
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| Keywords | 糖尿病 / 遺伝因子 / ＭＯＤＹ |
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| Research Abstract |
Maturity-onset diabetes of the young (MODY) is a diabetes characterized by an autosomal-dominant mode of inheritance and an onset before the age of 25 years. Although thirteen MODY genes have been reported, a major susceptibility gene in Japanese MODY families has not been identified. In this study, we determined susceptibility genes in 8 Japanese MODY families (p.T228M, p.G246R, p.C371Y and p.G446D in glucokinase, p.E274K in HNF-1A, p.R276H and p.S461I in HNF-1B, p.P1198L in ABCC8) with Sanger sequencing. Furthermore, we carried out whole-exome sequencing which is the targeted sequencing of the human genome region that is protein coding to identify a new susceptibility gene for MODY. We obtained 50 X median coverage of the entire targeted exome and found several rare non-synonymous variants co-segregated with diabetes in a MODY family.
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[Journal Article] Familial young-onset diabetes, pre-diabetes and cardiovascular disease are associated with genetic variants of DACH1 in Chinese2014
Author(s)
Ma RC, Lee HM, Lam VK, Tam CH, Ho JS, Zhao HL, Guan J, Kong AP, Lau E, Zhang G, Luk A, Wang Y, Tsui SK, Chan TF, Hu C, Jia WP, Park KS, Lee HK, Furuta H, Nanjo K, Tai ES, Ng DP, Tang NL, Woo J, Leung PC, Xue H, Wong J, Leung PS, Lau TC, Tong PC, Xu G, Ng MC, So WY, Chan JC
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Journal Title
PLoS One
Volume: 9
Pages: e84770
Peer Reviewed
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[Journal Article] Genetic associations of type 2 diabetes with islet amyloid polypeptide processing and degrading pathways in asian populations2013
Author(s)
Lam VK, Ma RC, Lee HM, Hu C, Park KS, Furuta H, Wang Y, Tam CH, Sim X, Ng DP, Liu J, Wong TY, Tai ES, Morris AP; DIAGRAM Consortium, Tang NL, Woo J, Leung PC, Kong AP, Ozaki R, Jia WP, Lee HK, Nanjo K, Xu G, Ng MC, So WY, Chan JC
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Journal Title
PLoS One
Volume: 8(6)
Pages: e62378
Peer Reviewed
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[Journal Article] Clinical and functional characterization of the Pro1198Leu ABCC8 gene mutation associated with permanent neonatal diabetes mellitus2013
Author(s)
Takagi T, Furuta H, Miyawaki M, Nagashima K, Shimada T, Doi A, Matsuno S, Tanaka D, Nishi M, Sasaki H, Inagaki N, Yoshikawa N, Nanjo K, Akamizu T
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Journal Title
J Diabetes Invest
Volume: 4
Pages: 269-273
Peer Reviewed
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[Presentation] Clinical and functional characterization of the Pro1198Leu ABCC8 gene mutation associated with permanent neonatal diabetes mellitus2013
Author(s)
Furuta H, Takagi T, Miyawaki M, Nagashima K, Shimada T, Doi A, Matsuno S, Tanaka D, Nishi M, Sasaki H, Inagaki N, Yoshikawa N, Nanjo K, Akamizu T
Organizer
βCell Workshop 2013
Place of Presentation
Kyoto, Japan
Year and Date
20130423-26
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