Article
Identification of LRRK2 missense variants in the accelerating medicines partnership Parkinson's disease cohort.
Human molecular genetics - 30 Apr 2021
Bryant Nicole, Malpeli Nicole, Ziaee Julia, Blauwendraat Cornelis, Liu Zhiyong, West Andrew B
Abstract excerpt
Pathogenic missense variants in the leucine-rich repeat kinase 2 (LRRK2) gene have been identified through linkage analysis in familial Parkinson disease (PD). Subsequently, other missense variants with lower effect sizes on PD risk have emerged, as well as non-coding polymorphisms (e.g. rs76904798) enriched in PD cases in genome-wide association studies. Here we leverage recent whole-genome sequences from the...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Case-Control Studies
- Cohort Studies
- Female
- Genetic Predisposition to Disease
