Genetic Analysis Of Alzheimer s Disease

我们继续对大量基因组关联数据的重新分析做出贡献，其中许多工作已经发表，其中确定了几个新的基因座和一个趋同的分子途径。我们已经扩展了这项工作，以表征CLU和PICALM位点的遗传变异程度，并检查这些位点和其他位点的变异作为数量性状位点的作用。在这方面，我们的工作使用了我们实验室产生的参考数据，以方便测试候选变异与基因表达和/或近端DNA甲基化之间的关联。此外，我们目前正在与伦敦大学学院的合作者合作，对患有阿尔茨海默病的家庭和个人进行外显子组测序；这项工作旨在确定与疾病相关的中度至高风险变异。

We continue to be a contributor to the reanalysis of large tracts of genome wide association data and much of this work, which identifies several new loci, and a converging molecular pathway, has been published. We have expanded this work to characterize the extent of genetic variability at the CLU and PICALM loci, and to examine the role of variants in these and other loci as quantitative trait loci. In this respect our efforts have used the reference data generated within our laboratory that facilitates testing association between candidate variants and gene expression and/or proximal DNA methylation. In addition, we are currently working with collaborators at UCL to perform exome sequencing on families and individuals with Alzheimer's disease; this work aims to identify moderate- to high-risk variants associated with disease.