Rare gene variations and risk of schizophrenia: whole-exome sequencing in families with affected siblings followed by targeted resequencing and a case-control study

2016 Fiscal Year Final Research Report

• Project/Area Number: 15K19716
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Psychiatric science
• Research Institution: Niigata University
• Principal Investigator: HOYA Satoshi 新潟大学, 医歯学総合研究科, 非常勤講師 (50748580)
• Project Period (FY): 2015-04-01 – 2017-03-31
• Keywords: 統合失調症 / 罹患同胞対 / 全エクソーム解析 / PDCD11遺伝子

Outline of Final Research Achievements

To identify rare variations that have strong impact on the risk of developing schizophrenia, we performed a three-stage study. In the first stage, we identified two rare missense PDCD11 variations (D961N and V1240L) using whole-exome sequencing (WES) data from three families, each with two affected siblings. In the second stage, we identified three rare non-synonymous variations (V1240L, F1835del, and R1837H) via targeted resequencing of the PDCD11 coding region in 96 patients. In the third stage, a case-control study demonstrated no significant associations between schizophrenia and four rare PDCD11 variations in a total of 1,357 patients and 1,394 controls. Our data do not support the role of rare PDCD11 variations in conferring substantial risk for schizophrenia in the Japanese population.

Free Research Field

精神神経科学