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; c.800C > G, p.P267R, and c.923A > G, p.N308S) and seven rare variants were identified. No significant differences in the missense-variant carrier frequency were noted between our cohort and individuals in the Taiwan Biobank. Furthermore, no significant associations were noted between the variants and the risk of PD.

Conclusions: Our study is not supporting a role of UQCRC1 variants in PD.

Keywords: Parkinson's disease; early-onset; familial; parkinsonism; ubiquinol-cytochrome C reductase core protein 1 (UQCRC1).