2020
DOI: 10.1111/cns.13436
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The lack of association between ubiquinol‐cytochrome c reductase core protein I (UQCRC1) variants and Parkinson's disease in an eastern Chinese population

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Cited by 6 publications
(3 citation statements)
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References 12 publications
(14 reference statements)
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“…> C, p.D215H; c.800C > G, p.P267R, and c.923A > G, p.N308S) among our participants, their pathogenicity was low, as indicated by the high allele frequency in East Asian populations and benign functional predictions. The missense variants were also recently reported in a cohort in eastern China, and the frequencies were similar between patients with PD and controls (17). Although the prevalence of c.297 + 21C > T was higher among our participants than among the enrolees of the Taiwan Biobank database, in silico pathogenicity predictors indicated that c.297 + 21C > T does not notably affect the mRNA splicing of UQCRC1.…”
Section: Discussionsupporting
confidence: 78%
“…> C, p.D215H; c.800C > G, p.P267R, and c.923A > G, p.N308S) among our participants, their pathogenicity was low, as indicated by the high allele frequency in East Asian populations and benign functional predictions. The missense variants were also recently reported in a cohort in eastern China, and the frequencies were similar between patients with PD and controls (17). Although the prevalence of c.297 + 21C > T was higher among our participants than among the enrolees of the Taiwan Biobank database, in silico pathogenicity predictors indicated that c.297 + 21C > T does not notably affect the mRNA splicing of UQCRC1.…”
Section: Discussionsupporting
confidence: 78%
“…In the original study in which UQCRC1 variants were implicated, the authors described a family in which 5 carriers of UQCRC1 p.Y314S had late-onset parkinsonism and axonal type sensorimotor polyneuropathy (Lin et al, 2019). Recent replication study in an eastern Chinese population did not reveal association between UQCRC1 and PD (Lin et al, 2020).…”
Section: Discussionmentioning
confidence: 94%
“…Considering the total number of families with AD PD included in the study (383 in total), the UQCRC1 gene seems very rarely implicated in familial European Caucasian cases. In addition, three recent studies including 1647 European, 452 Asian sporadic PD patients, and 477 AD PD Asian families respectively did not find any evidence for association of UQCRC1 with Parkinson's disease [2][3][4].…”
mentioning
confidence: 99%