Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders.

ABSTRACT:

Objective

To assess the role of CHCHD2 variants in patients with Parkinson disease (PD) and Lewy body disease (LBD) in Caucasian populations.

Methods

All exons of the CHCHD2 gene were sequenced in a US Caucasian patient-control series (878 PD, 610 LBD, and 717 controls). Subsequently, exons 1 and 2 were sequenced in an Irish series (355 PD and 365 controls) and a Polish series (394 PD and 350 controls). Immunohistochemistry and immunofluorescence studies were performed on pathologic LBD cases with rare CHCHD2 variants.

Results

We identified 9 rare exonic variants of unknown significance. These variants were more frequent in the combined group of PD and LBD patients compared to controls (0.6% vs 0.1%, p = 0.013). In addition, the presence of any rare variant was more c

SUBMITTER: Ogaki K 

PROVIDER: S-EPMC4676755 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature