Search and functional analysis of causal SNPs regulating blood HDL level

2018 Fiscal Year Final Research Report

• Project/Area Number: 17K13217
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Applied health science
• Research Institution: University of Tsukuba
• Principal Investigator: Aita Yuichi 筑波大学, 医学医療系, 助教 (60752152)
• Project Period (FY): 2017-04-01 – 2019-03-31
• Keywords: 生活習慣病

Outline of Final Research Achievements

For the purpose of searching causal SNPs which regulate blood HDL level, the TFEL scan method was used to analyze SNPs in the promoter region of apoAI. First, a reference sequence of the promoter region was inserted into one of two different luciferase reporter vectors and a sequence having only one SNP in the same region was inserted into the other vector. These vectors were co-transfected into human cell lines to evaluate the ratio of luciferase activity. Next, the TFEL scan method was used to identify transcription factors that bind to SNPs selected by screening.

Free Research Field

応用健康科学

Academic Significance and Societal Importance of the Research Achievements

同定された転写因子をヒト細胞株で過剰発現したところ、内因性のapoAI遺伝子の発現が増加した。apoAIのプロモーター領域にあり、転写活性に影響を与えるSNPと、この部位に結合してapoAI遺伝子の発現を制御する転写因子を同定した。