Genetic Analysis Of Non-alzheimer Dementias

非阿尔茨海默痴呆症的遗传分析

• 批准号: 8736665
• 负责人: Andrew Singleton
• 金额: $ 37.01万
• 依托单位: NATIONAL INSTITUTE ON AGING
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8736665
• 关键词: Alzheimer' s Disease; Amyotrophic Lateral Sclerosis; Chromosome Mapping; Chromosomes, Human, Pair 9; Dementia; Disease; Family; Frontotemporal Dementia; Gene Mutation; Genetic; Individual; Laboratories; Lead; Lewy Body Dementia; Light; Molecular Genetics; Mutation; Parkinson Disease; Parkinson' s Dementia; Prion Diseases; Process; Publishing; Recording of previous events; Reporting; Risk; Work; base; exome sequencing; genetic analysis; genome wide association study; non-alzheimer dementia; novel; positional cloning

We have used dense SNP based linkage mapping to identify novel loci associated with familial frontotemporal dementia. This work shows linkage overlapping an extant locus on chromosome 9 which we now is understand is also a risk locus for amyotrophic lateral sclerosis. This positional cloning effort is being lead by Dr. Traynor's group (separate report) and this locus has int he last year been discovered by our laboratory. Our ongoing work on dementia with Lewy bodies and Parkinson's disease with dementia primarily focuses on analysis of loci identified in our genome wide association studies in Alzheimer's disease and Parkinson's disease to see if we can tease out the genetic basis of dementia in these disorders which neuropathologically sit between Alzheimer's and Parkinson's disease. We are in the process of publishing the results of our GWAS in FTD which shows two replicated risk loci for this disorder.

我们使用基于密集 SNP 的连锁图谱来识别与家族性额颞叶痴呆相关的新位点。这项工作显示了与 9 号染色体上现有基因座重叠的连锁，我们现在了解到该基因座也是肌萎缩侧索硬化症的风险基因座。这项定位克隆工作由 Traynor 博士的小组领导（单独报告），我们的实验室去年发现了这个基因座。我们正在进行的关于路易体痴呆和帕金森病痴呆的工作主要集中于分析在阿尔茨海默病和帕金森病的全基因组关联研究中确定的基因座，看看我们是否可以梳理出这些疾病中痴呆的遗传基础，这些疾病在神经病理学上位于阿尔茨海默病和帕金森病之间。我们正在 FTD 中发布 GWAS 结果，该结果显示了这种疾病的两个重复风险位点。