Imaging GWAS : genome wide association study of cortical volumes in Japanese population

2015 Fiscal Year Final Research Report

• Project/Area Number: 25293250
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Psychiatric science
• Research Institution: Osaka University
• Principal Investigator: HASHIMOTO RYOTA 大阪大学, 連合小児発達学研究科, 准教授 (10370983)
• Co-Investigator(Kenkyū-buntansha): YASUDA Yuka 大阪大学, 医学部附属病院, 特任助教 (20448062) ; YAMAMORI Hidenaga 大阪大学, 医学系研究科, 助教 (90570250) ; FUJIMOTO Michiko 大阪大学, 医学部附属病院, 医員 (50647625) ; FUJINO Haruo 大阪大学, 人間科学研究科, 助教 (20707343) ; KUDO Noriko 大阪大学, 連合小児発達学研究科, 招へい研究員 (30751151) ; UMEDA Satomi 大阪大学, 医学系研究科, 特任研究員 (00625329) ; HIGUCHI Arisa 大阪大学, 医学系研究科, 技術補佐員 (60647668)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: 統合失調症 / 全ゲノム関連解析（GWAS） / 脳MRI / 大脳異質体積 / 右上前頭回皮質体積

Outline of Final Research Achievements

The superior frontal gyrus (SFG), an area of the brain frequently found to have reduced gray matter in patients with schizophrenia, is involved in self-awareness and emotion, which are impaired in schizophrenia. To identify single-nucleotide polymorphisms (SNPs) associated with SFG volumes, we demonstrated a genome-wide association study (GWAS) of gray matter volumes in the right or left SFG of 158 patients with schizophrenia and 378 healthy subjects. We found associations between rs4654899, an intronic SNP in the EIF4G3 gene on 1p36.12 and the right SFG volume at a widely used benchmark for genome-wide significance. In silico analyses revealed a proxy SNP of rs4654899 had effect on gene expression of two genes, HP1BP3 lying 3' to EIF4G3 and CAPN14 at 2p, which are expressed in moderate-to-high levels throughout the adult human SFG. These results contribute to understand genetic architecture of a brain structure possibly linked to the pathophysiology of schizophrenia.

Free Research Field

医歯薬学　内科系臨床医学　精神神経学