大脳白質病変及び認知機能低下に関わる遺伝子多型の解析

脑白质病变及认知能力下降相关基因多态性分析

• 批准号: 15H00643
• 负责人: 馬庭 恭平
• 金额: $ 0.38万
• 依托单位: Shimane University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Encouragement of Scientists
• 财政年份: 2015
• 资助国家: 日本
• 起止时间: 2015 至 无数据
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-15H00643/
• 关键词: CystatinC遺伝子多型; 大脳白質病変

【研究目的】本研究ではCystatinC(CysC)の大脳白質病変または認知機能への遺伝的要因を明らかにすることを目的とし、脳ドックを受診した患者のDNAサンプルを用いて、CysCの遺伝子多型について解析し、遺伝子多型と大脳白質病変、認知機能との関連性について検討した。【研究方法・結果】脳ドックを受診した患者1873例を対照とし、末梢血よりDNAを抽出した。CysC遺伝子は大脳白質病変、認知機能に関連すると考えられるrs5030707、rs1130655、rs73318135、rs1055084、rs1064039、rs201089355の遺伝子多型を対象とし、Taqman法で解析を行った。大脳白質病変は脳室周囲病変(PVH)、深部皮質下白質病変(DSWMH)について、認知機能は岡部式簡易知的評価尺度、Frontal Assessment Battery (FAB)、Kohs立方体検査についてそれぞれ遺伝子多型との関連について解析を行った。その結果、大脳白質病変に関してrs1064039とPVHとの間において有意な差が認められた(p=0.048)。しかし、他の遺伝子については認められなかった。また認知機能に関しては全ての項目と遺伝子多型との間に有意な差は認められなかった。【研究成果】CysC遺伝子多型rs1064039とPVHとの関連性が示唆された。現在までにrs1064039は滲出型加齢黄斑変性症やアルツハイマー病(AD)といった疾患との関連や、ハプロタイプがDSWMHと関連するという報告はあるがPVHとの関連を示す報告はない。rs1064039は血漿中のCysC濃度とも関連する遺伝子多型との報告もあり、今後は血漿CysC濃度と遺伝子多型との関連を明らかにするとともに、ADの原因遺伝子として知られるApoEとの相互作用についての調査も必要である。

[objective] in this study, the main reasons for the detection of CystatinC (CysC) disease were that the patients were infected with DNA, the polymorphisms of CysC were analyzed, the polymorphisms of the disease were detected, and the association was detected. [results] A total of 1873 patients were enrolled in this study. The peripheral blood samples were collected from 1873 patients who received medical attention, and the peripheral blood samples were extracted from the patients. Rs5030707, rs1130655, rs73318135, rs1055084, rs1064039, rs201089355 polymorphisms were detected in CysC patients with leukoplasias, and analyzed by Taqman method. Periventricular disease (PVH), deep subcutaneous leukoplasias (DSWMH), organ-specific scales that can be easily known, Frontal Assessment Battery (FAB), and Kohs cubes are known in periventricular disease (PVH), deep subcutaneous leukoplasias (FAB), deep subcutaneous leukoplasias (DVDs). The results showed that there was no significant difference in the results of the disease (pause 0.048). The results showed that there was no significant difference in the results of the disease. Tell me about it, and let him know that you don't know what to do. You are aware that you are aware of the possibility that the full range of projects will be affected by the number of multiple types of information that you intend to receive. [research results] CysC polymorphisms rs1064039 PVH polymorphisms are instigated by connectivity. Now there is a case of macular disease (AD) in addition to the diagnosis of rs1064039. There is a disease in DSWMH. The report shows that there is a report of macular disease. In rs1064039, there is a report of multiple phenotypes in rs1064039 blood samples. In the future, the blood samples of CysC polymorphisms are not known. The causes of AD polymorphisms are not known. ApoE interactions are necessary.