UQCRC1 sequencing result.xlsx

UQCRC1 variants in early-onset and familial Parkinson’s disease in a Taiwanese cohort </p

Data_Sheet_1_UQCRC1 variants in early-onset and familial Parkinson's disease in a Taiwanese cohort.docx

BackgroundA 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).MethodThis 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.ResultsThree 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.ConclusionsOur study is not supporting a role of UQCRC1 variants in PD.</p

Correlations (r values) between crossing variables and sensory integration ability (n = 42).

<p><i>P</i><0.05; **<i>P</i><0.01. SOM: somatosensory ratio; VIS: visual ratio; VEST: vestibular ratio.</p

Obstacle crossing parameters.

<p>Obstacle crossing parameters.</p

Correlations (r values) between crossing variables and PDQ39 and FES-I (n = 42).

<p>P<0.05.</p

Stepwise regression analysis for obstacle crossing variables (n = 42).

<p>Stepwise regression analysis for obstacle crossing variables (n = 42).</p

Correlations (r values) between crossing variables and lower extremity muscle strength (n = 42).

<p><i>P</i><0.05; **<i>P</i><0.01.</p

Summarized RT-PCR validation results of the 17 genes in human leukocytes.

*<p>Comparison of the gene expression levels of HD patients (n = 16) with controls (n = 20).</p

Clinical characteristics and gene expression levels of the symptomatic HD patients, PreHD carriers and the controls.

<p>HD: Huntington's Disease. SSRI: selective serotonin uptake inhibitor. UHDRS: The Unified Huntington's Disease Rating Scale. Scale ranges (normal to most severe) include motor score (0 to 124), independence score (100 to 10), and functional capacity (13 to 0).</p>‡<p>: <i>P</i> value of ANCOVA with adjustment of age and gender.</p>*<p>: Statistically significant in comparison with controls, <i>P</i><0.05, ANCOVA with <i>post-hoc</i> Bonferroni test;</p>**<p>: Statistically significant in comparison with PreHD and controls respectively, <i>P</i><0.05, ANCOVA with <i>post-hoc</i> Bonferroni test;</p>#<p>: Statistically significant in comparison with HD patients and controls respectively, <i>P</i><0.05, ANOVA.</p

Lists of assay ID and probe sequence for RT-PCR.

<p>Lists of assay ID and probe sequence for RT-PCR.</p