AUTHOR=Liao Ting-Wei , Chao Chih-Ying , Wu Yih-Ru 

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

JOURNAL=Frontiers in Neurology

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2022.1090406

DOI=10.3389/fneur.2022.1090406

ISSN=1664-2295

ABSTRACT=<sec><title>Background</title><p>A recent Taiwanese study reported variants of the ubiquinol-cytochrome c reductase core protein 1 (<italic>UQCRC1</italic>) gene linked to autosomal dominant parkinsonism with polyneuropathy. This study investigated the pathogenicity of <italic>UQCRC1</italic> in a Taiwanese cohort of patients with Parkinson's disease (PD).</p></sec><sec><title>Method</title><p>This study involved 107 participants (98 with early-onset PD and nine with familial PD). All <italic>UQCRC1</italic> 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 χ<sup>2</sup> or Fisher's exact test along with Bonferroni corrections.</p></sec><sec><title>Results</title><p>Three missense variants (c.643G &gt; C, p.D215H; c.800C &gt; G, p.P267R, and c.923A &gt; 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.</p></sec><sec><title>Conclusions</title><p>Our study is not supporting a role of <italic>UQCRC1</italic> variants in PD.</p></sec>