Integrated analysis of blood Lp(a) levels and KIV2 polymorphisms with cancer and cardiovascular disease

2022 Fiscal Year Final Research Report

• Project/Area Number: 18K15055
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 48040:Medical biochemistry-related
• Research Institution: Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology (2019-2022); National Center for Global Health and Medicine (2018)
• Principal Investigator: Yamasaki Maria 地方独立行政法人東京都健康長寿医療センター(東京都健康長寿医療センター研究所), 東京都健康長寿医療センター研究所, 研究員 (60776516)
• Project Period (FY): 2018-04-01 – 2023-03-31
• Keywords: Lp(a) / KIV2 / CNV / cancer / cardiovascular disease

Outline of Final Research Achievements

In this study, we performed an integrated analysis of blood Lp(a) levels and KIV2 polymorphisms, assuming prediction of disease risks such as cancer and cardiovascular disease. In this study, autopsy specimens from the Tokyo Metropolitan Institute for Geriatrics and Gerontology were analyzed using blood Lp(a) concentration, clinical information, and experimentally determined KIV2 copy number. As a result, as in the previous study, it was suggested that low blood Lp(a) concentration in cancer and high blood Lp(a) concentration in myocardial infarction are the risks. In addition, in this study, we conducted an exploratory verification analysis to determine whether the genetic background is related to each disease through the blood Lp(a) concentration, or whether it is an independent factor. It was suggested that it is related to each disease through blood Lp(a) level.

Free Research Field

人類遺伝学

Academic Significance and Societal Importance of the Research Achievements

本研究成果の学術的意義は、①血中Lp(a)濃度、②循環器疾患及びがんの臨床情報、 ③全ゲノムSNP情報、④実験で決定されたKIV2多型のコピー数の情報を有している対象者を用いて、統合的に解析を実施して、候補領域的アプローチにおいて、先行研究にある通りに血中Lp(a)濃度ががんで低値、心筋梗塞で高値がリスクであることが示唆できた点である。また、本研究では遺伝的背景が血中Lp(a)濃度を介して各疾患と関連していることが示唆されたことも意義がある。