Copy number variation database of Alzheimer's disease for genome analysis

2015 Fiscal Year Final Research Report

• Project/Area Number: 25430181
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: System genome science
• Research Institution: Osaka University (2014-2015); Niigata University (2013)
• Principal Investigator: Nakaya Akihiro 大阪大学, 医学系研究科, 特任教授(常勤) (60301149)
• Co-Investigator(Kenkyū-buntansha): KUWANO Ryozo 新潟大学, 脳研究所, フェロー (20111734) ; MIYASHITA Akinori 新潟大学, 脳研究所, 助教 (60323995)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: アルツハイマー病 / コピー数変異 / マイクロアレイ

Outline of Final Research Achievements

We developed a comprehensive database (AD/GD CNVdb) that comprises genome-wide copy number variations (CNVs) in more than 2,000 unrelated Japanese subjects including patients of Alzheimer’s disease (AD). Besides the healthy controls (N=1,000), it contains diseased subjects categorized into two types, EOAD (early-onset AD, N=300) and LOAD (late-onset AD, N=1,000). All the subjects were analyzed by the Affymetrix SNP 6.0 Array to identify CNVs, and the raw intensity data at more than 1.8 million markers were converted into the actual copy number states. In each subject group, we evaluated rates of CNVs (gain and loss) at the markers, and extracted the CNV regions where the continuous markers indicate rates of CNVs higher than a threshold along the genome sequence. We then conducted case-control studies among the subject groups using the CNV regions, and visualized the results to elucidate the relationships between the structural variations and the disease.

Free Research Field

ゲノム情報学