Mechanism of determining genomic copy number according to analyses of early-onset diabetic patients

2015 Fiscal Year Final Research Report

• Project/Area Number: 26670447
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Metabolomics
• Research Institution: Tohoku University
• Principal Investigator: KATAGIRI Hideki 東北大学, 医学(系)研究科(研究院), 教授 (00344664)
• Research Collaborator: Kondo Keiichi 東北大学, 東北メディカルメガバンク機構, フェロー (70644805) ; Kodama Shinjiro 東北大学, 東北メディカルメガバンク機構, フェロー (60747062)
• Project Period (FY): 2014-04-01 – 2016-03-31
• Keywords: 糖尿病 / ゲノム / コピー数多型 / 遺伝子診断

Outline of Final Research Achievements

Genetic factors play very important roles in the onset and progression of type 2 diabetes mellitus (T2DM). We reported that copy number losses in the subtelomeric region on chromosome 4p16.3 were detected in early-onset Japanese T2DM patients at a high frequency.
In this study, we found two novel copy number losses within the subtelomeric regions, which have significant associations with early-onset Japanese T2DM. In addition, using the MassArray system, we detected a “one-copy” region in four diabetic patients within the chromosome 4p16.3 region, indicating some genomic alterations in these affected subjects. Furthermore, the 4p16.3 region and whole exomes of 11 diabetic patients was sequenced by the next generation sequencer. Although the big sequencing data are now analyzing, we obtained novel findings which suggest genomic alterations in one allele of several affected subjects.

Free Research Field

内科学