Genetic Analysis Of Alzheimer s Disease

我们继续为重新分析大量基因组范围内的关联数据做出贡献，并且已经发表了许多这项工作，其中确定了几个新的基因座和一个会聚的分子途径。我们已经扩大了这项工作的特点，在CLU和PICALM基因座的遗传变异的程度，并检查在这些和其他基因座的数量性状基因座的变异的作用。在这方面，我们的努力使用了我们实验室内生成的参考数据，这些数据有助于测试候选变体与基因表达和/或近端DNA甲基化之间的关联。此外，我们目前正在与UCL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;这项工作旨在识别与疾病相关的中高危变异。

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.