Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

基因组测序分析确定了与路易体痴呆相关的新基因座并深入了解了其遗传结构

阅读:8
作者:Ruth Chia #, Marya S Sabir #, Sara Bandres-Ciga, Sara Saez-Atienzar, Regina H Reynolds, Emil Gustavsson, Ronald L Walton, Sarah Ahmed, Coralie Viollet, Jinhui Ding, Mary B Makarious, Monica Diez-Fairen, Makayla K Portley, Zalak Shah, Yevgeniya Abramzon, Dena G Hernandez, Cornelis Blauwendraat, David

Abstract

The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer's disease and Parkinson's disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition.

特别声明

1、本页面内容包含部分的内容是基于公开信息的合理引用;引用内容仅为补充信息,不代表本站立场。

2、若认为本页面引用内容涉及侵权,请及时与本站联系,我们将第一时间处理。

3、其他媒体/个人如需使用本页面原创内容,需注明“来源:[生知库]”并获得授权;使用引用内容的,需自行联系原作者获得许可。

4、投稿及合作请联系:info@biocloudy.com。