Whole-Exome Sequencing in Familial Parkinson Disease.

ABSTRACT:

Importance

Parkinson disease (PD) is a progressive neurodegenerative disease for which susceptibility is linked to genetic and environmental risk factors.

Objective

To identify genetic variants contributing to disease risk in familial PD.

Design, setting, and participants

A 2-stage study design that included a discovery cohort of families with PD and a replication cohort of familial probands was used. In the discovery cohort, rare exonic variants that segregated in multiple affected individuals in a family and were predicted to be conserved or damaging were retained. Genes with retained variants were prioritized if expressed in the brain and located within PD-relevant pathways. Genes in which prioritized variants were observed in at least 4 families were selected as c

SUBMITTER: Farlow JL 

PROVIDER: S-EPMC4946647 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature