Work

Multi-ancestry rare variant burden analysis of E3 ubiquitin ligase genes in Parkinson's disease

Year: 2026

Type: preprint

Abstract: E3 ubiquitin ligases regulate protein degradation through the ubiquitin-proteasome system and have been implicated in early-onset Parkinson's disease (EOPD). We performed a multi-ancestry rare variant burden analysis of seven E3 ubiquitin ligase genes (HERC1, IRF2BPL, KMT2D, RAPSN, RNF168, RNF216, TRIM2) using GP2 Release 11 WGS data from 17,928 PD patients (including 6,659 EOPD) and 8,977 controls across five major ancestry groups (African, Central Asian, East Asian, European, and Middle Eastern). We did not identify any association between gene based rare burden and PD, using the optimised sequence kernel association test (SKAT-O).

Source: medRxiv

DOI: 10.64898/2026.11.01.26366966

Authors: Karen L. Velasquez-Mendez, Daniel F. Santos-Gil, Maria Teresa Perinan, Konstantin Senkevich, the Global Parkinson's Genetic Program (GP2)

Institutions: Universidad Nacional de Colombia, Instituto de Biomedicina de Sevilla, McGill University

Language: English

Topic: Parkinson's Disease Mechanisms and Treatments

Subfield: Clinical Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W7225200569

Cites: 3

Cited by:

Related to: 10