Functional analysis of GWAS-derived type 2 diabetes susceptibility genes

2016 Fiscal Year Final Research Report

• Project/Area Number: 26461390
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Endocrinology
• Research Institution: University of the Ryukyus (2015-2016); The Institute of Physical and Chemical Research (2014)
• Principal Investigator: IMAMURA Minako 琉球大学, 医学(系)研究科(研究院), 准教授 (00596124)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 2型糖尿病 / 遺伝要因

Outline of Final Research Achievements

We have performed a fine-mapping within the C2CD4A-C2CD4B locus to identify causal variants for type 2 diabetes susceptibility. The most significant association was observed in intergenic region which indicates the causal variant may affect the expression of either C2CD4A or C2CD4B. We also found that these genes dominantly expressed in human pancreas and mouse pancreatic beta cell line. Motivated by the results of fine mapping and expression analysis, we have generated beta-cell specific transgenic mice for C2cd4a and C2cd4b respectively to evaluate the role of these genes in vivo.

Free Research Field

内科系臨床医学　内分泌学　ゲノム医学