Polygenic analysis of intermediate phenotypes

2015 Fiscal Year Final Research Report

• Project/Area Number: 26670541
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• 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)
• Project Period (FY): 2014-04-01 – 2016-03-31
• Keywords: 統合失調症 / 大脳皮質体積 / ポリジェニックリスクスコア / 中間表現型 / 遺伝子多型 / 脳MRI

Outline of Final Research Achievements

It is unclear whether polygenic schizophrenia score (PSS) affects variation in specific gray matter volume (GM). PSS was calculated using another Japanese cohort. To identify brain regions related to PSS, we conducted a whole-brain search in 160 patients with schizophrenia and 378 healthy subjects using a multiple regression model. In patients, PSS was significantly negatively correlated with the local GM in the left superior temporal gyrus (STG), an area of the brain reported to have reduced GM in high-risk individuals and first-episode and chronic schizophrenia patients. Higher PSS was associated with smaller left STG volumes in patients, however, there was no effect of the score on the GM in healthy subjects. Our data demonstrating impact of genetic risk variants of schizophrenia on brain morphology could be useful for understanding pathophysiology of schizophrenia.

Free Research Field

医歯薬学　内科系臨床医学　精神神経学