Objective: To further investigate the association between ubiquinol-cytochrome c reductase core protein I (UQCRC1) and Parkinson’s disease (PD) among ethnic Chinese from southwest China.

Background: Recently, a novel variant p.Y314S in UQCRC1 has been implicated as pathogenic in PD.

Method: Using whole-exome sequencing (WES), we performed genetic analyses of 416 participants including 340 with sporadic and 76 with familial PD from the Movement Disorders Outpatient Clinic of West China Hospital, Sichuan University (Chengdu, China).

Results: Notably, we did not detect the previously reported p.Y314S variant in UQCRC1. We identified one synonymous variant (p.L52L), one nonsense variant (p.R228*) and six nonsynonymous variants (p.P46L, p.S51G, p.N55S, p.V287M, p.A309T, and p.V322M) of the UQCRC1 gene. Our identified rare variants in UQCRC1 were absent or rare in the East Asian population according to ExAC. Moreover, burden analyses did not reveal an association between the rare variants in UQCRC1 and PD.

Conclusion: In conclusion, our results do not support a major role for UQCRC1 in PD in southwest China. Further genetic analysis with larger sample sizes from diverse ethnic populations and functional assays are still needed to clarify the role of UQCRC1 in the pathogenesis of PD.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/the-lack-of-association-between-uqcrc1-and-parkinsons-disease-in-a-southwest-chinese-population/