Phenome Wide Assosiation Study of disease candidate gene using Japanese elderly consecutive autopsy cases

• Project/Area Number: 15K08712
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Epidemiology and preventive medicine
• Research Institution: National Center for Global Health and Medicine
• Principal Investigator: IKEDA SHINOBU 国立研究開発法人国立国際医療研究センター, その他部局等, 上級研究員 (20415508)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Project Status: Completed (Fiscal Year 2017)
• Budget Amount: ¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000); Fiscal Year 2017: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000); Fiscal Year 2016: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000); Fiscal Year 2015: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
• Keywords: PheWAS / 日本人高齢者 / 連続剖検例 / 病理フェノーム情報 / SNV / CNV / 疾患感受性遺伝子 / 老年病 / 脳血管疾患 / Lp(a) / 悪性腫瘍 / 循環器疾患 / 遺伝子多型 / 病理フェノーム / 関連解析 / 分子疫学

Outline of Final Research Achievements

In this study, we investigated the relationship between the genetic variants of disease candidate gene and the pathological phenotype information using Japanese elderly consecutive autopsy cases.Several single nucleotide variations (SNVs) and copy number variants (CNVs) were retrieved from genotyping by TaqMan Assay system and Illumina exome-chip in about 2000 Japanese elderly consecutive autopsy cases. All subjects met well-determined genotyping results and appropriate availability of their clinical history including pathological phenotype information. We were observed for the novel association between some genetic variants and cardiovascular disease or any type of cancer in this study population. This is the first study analyzing the relationship between genetic variants and pathological diagnosis diseases in this study population. Future longitudinal studies are warranted to characterize the mechanisms by each genetic variant may affect the development of diseases.

Research Products

• [Presentation] Associated genes of the cancer in Japanese consecutive autopsy cases. (2017)
  • Author(s): 池田仁子
  • Organizer: 第76回 日本癌学会学術総会
• [Presentation] Genetic variants in LPA gene are associated with the risk of cancer in elderly Japanese population. (2017)
  • Author(s): 池田仁子
  • Organizer: 日本人類遺伝学会 第62回大会
• [Presentation] Genetic variants in LPA gene are associated with the risk of cancer in elderly Japanese population. (2016)
  • Author(s): Shinobu IKEDA
  • Organizer: The 84th EAS congress, International Lp(a) Satellite Meeting
  • Place of Presentation: Insbruck, Austria
  • Year and Date: 2016-05-27
  • Int'l Joint Research