UQCRC1 variants in early-onset and familial Parkinson's disease in a Taiwanese cohort.

ABSTRACT:

Background

A recent Taiwanese study reported variants of the ubiquinol-cytochrome c reductase core protein 1 (UQCRC1) gene linked to autosomal dominant parkinsonism with polyneuropathy. This study investigated the pathogenicity of UQCRC1 in a Taiwanese cohort of patients with Parkinson's disease (PD).

Method

This study involved 107 participants (98 with early-onset PD and nine with familial PD). All UQCRC1 coding exons and exon-intron boundaries were sequenced. The rarity and pathogenicity of the identified variants were analyzed. The carrier frequencies of our cohort and the Taiwan Biobank were compared through a Pearson's χ² or Fisher's exact test along with Bonferroni corrections.

Results

Three missense variants (c.643G > C, p.D215H;

SUBMITTER: Liao TW 

PROVIDER: S-EPMC9780373 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature