Department of Radiology and Imaging Sciences, Center for Neuroimaging, Indiana University School of Medicine, Indianapolis, IN, USA.
Alzheimers Dement. 2010 May;6(3):265-73. doi: 10.1016/j.jalz.2010.03.013.
The role of the Alzheimer's Disease Neuroimaging Initiative Genetics Core is to facilitate the investigation of genetic influences on disease onset and trajectory as reflected in structural, functional, and molecular imaging changes; fluid biomarkers; and cognitive status. Major goals include (1) blood sample processing, genotyping, and dissemination, (2) genome-wide association studies (GWAS) of longitudinal phenotypic data, and (3) providing a central resource, point of contact and planning group for genetics within the Alzheimer's Disease Neuroimaging Initiative. Genome-wide array data have been publicly released and updated, and several neuroimaging GWAS have recently been reported examining baseline magnetic resonance imaging measures as quantitative phenotypes. Other preliminary investigations include copy number variation in mild cognitive impairment and Alzheimer's disease and GWAS of baseline cerebrospinal fluid biomarkers and longitudinal changes on magnetic resonance imaging. Blood collection for RNA studies is a new direction. Genetic studies of longitudinal phenotypes hold promise for elucidating disease mechanisms and risk, development of therapeutic strategies, and refining selection criteria for clinical trials.
阿尔茨海默病神经影像学倡议遗传学核心的作用是促进对遗传因素对疾病发病和病程的影响的研究，这些影响反映在结构、功能和分子影像学变化、体液生物标志物和认知状态上。主要目标包括：（1）血液样本处理、基因分型和传播；（2）对纵向表型数据进行全基因组关联研究（GWAS）；（3）提供一个核心资源、联络点和阿尔茨海默病神经影像学倡议内的遗传学规划组。全基因组芯片数据已经公开发布和更新，最近已经有几项神经影像学 GWAS 报告了对基线磁共振成像测量值作为定量表型的研究。其他初步研究包括轻度认知障碍和阿尔茨海默病中的拷贝数变异以及基线脑脊液生物标志物的 GWAS 和磁共振成像上的纵向变化。用于 RNA 研究的血液采集是一个新的方向。对纵向表型的遗传研究有望阐明疾病机制和风险、治疗策略的发展以及临床试验的选择标准的细化。
