Identification of novel diabetes susceptibility genes utilizing whole exome sequencing

2015 Fiscal Year Final Research Report

• Project/Area Number: 26860694
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Metabolomics
• Research Institution: Kyoto University
• Principal Investigator: Tanaka Daisuke 京都大学, 医学(系)研究科(研究院), 助教 (50582904)
• Co-Investigator(Renkei-kenkyūsha): KOIZUMI Akio 京都大学, 大学院医学研究科, 教授 (50124574)
• Project Period (FY): 2014-04-01 – 2016-03-31
• Keywords: 糖尿病

Outline of Final Research Achievements

The aim of this study was to investigate the genetic background of a family with multiple cases of diabetes using whole exome sequencing.　Whole exome sequencing identified 439 non-synonymous variants present in all affected members and absent in unaffected members. After excluding common variants with minor allele frequency of >1% in SNP databases or in 105 Japanese normal controls, 16 candidate variants were selected. Among them R608H mutation in the ARHGEF11 gene might be a mutation for susceptibility to diabetes because the ARHGEF11 gene has been implicated to be involved in glucose metabolism in genetic association studies.

Free Research Field

代謝学