Variants in DNAJC13 Are Not Associated with Parkinson’s Disease Across Different Ancestral Backgrounds

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Abstract
Background: DNAJC13 was initially linked to autosomal dominant (AD) Parkinson’s disease (PD) in a European Mennonite family carrying the p.N855S variant. However, imperfect segregation and conflicting reports of pathogenicity raised uncertainty of DNAJC13 ’s role in the disease. Objectives: Explore the association between common and rare variants in DNAJC13 and Parkinson’s disease. Methods: We leveraged the largest available PD genetics data from the Accelerating Medicines Partnership - Parkinson Disease (AMP-PD) and the diverse ancestry available through the Global Parkinson’s Genetics Program (GP2), consisting of 2,471 patients and 3,098 controls, and 44,186 patients and 27,066 controls, respectively, to perform burden tests and association tests for rare and common variants, respectively. Results: Burden analysis showed no association between rare variants in DNAJC13 and PD. However, association analysis within common non-synonymous variants nominated 5 variants within DNAJC13 . Nevertheless, these associations require further validation since the analyses are still underpowered. Discussion: Our analysis did not find further evidence supporting DNAJC13 involvement in PD. However, studies of even larger cohorts and AD-PD families may bring definite answers about DNAJC13’s role in PD.

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