Identification of locomotive and metabolic syndrome-related genes by genome wide association and functional analysis

2015 Fiscal Year Final Research Report

• Project/Area Number: 25293214
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Endocrinology
• Research Institution: The University of Tokyo
• Principal Investigator: Urano Tomohiko 東京大学, 医学部附属病院, 講師 (20334386)
• Co-Investigator(Kenkyū-buntansha): INOUE Satoshi 東京大学, 医学部附属病院, 特任教授 (40251251)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: 骨粗鬆症 / サルコペニア / 肥満 / ゲノムワイド解析

Outline of Final Research Achievements

Osteoporosis is a skeletal disease characterized by an increased susceptibility to fractures. Evidence from genetic analyses indicates that pathogenesis of osteoporosis is genetically controlled. We show that the SLC25A32, the mitochondrial inner membrane folate transporter, gene polymorphism could be a risk factor for lower folate concentration and future fracture. Moreover, we have identified single-nucleotide polymorphisms (SNPs) that are associated with the development of sarcopenia, which is characterized by a loss of lean body mass, and obesity, which is characterized by high fat mass by genome-wide association studies (GWAS). Here, we have shown that GWAS revealed a functional SNP in the 5'-flanking region of PRDM16 gene associated with lean body mass. We also found that genetic analyses in human and knock out mouse models revealed the importance of SLC25A24/Slc25a24 in the regulation of body fat mass and adipogenesis.

Free Research Field

内分泌学もしくは老年医学