Year: 2026
Type: preprint
Study design: Observational Study
Abstract: Recent evidence suggests that TMEM106B expression is reduced in the brains of patients with Parkinson's disease (PD). However, an association between rare genetic variants in TMEM106B and PD risk has not been previously established. In this work, we investigated the association between rare TMEM106B variants and PD risk. We leveraged whole-genome sequencing data from 22,010 cases and 40,550 controls across diverse ancestries from the Global Parkinson's Genetics Program (GP2), the Accelerating Medicines Partnership in Parkinson's Disease (AMP-PD), and the UK Biobank (UKBB). A total of 4,581 unique rare variants were identified across all groups. We found no evidence that rare coding variants in TMEM106B were associated with PD risk, either individually or through cumulative burden. These findings suggest that rare variation in TMEM106B does not play a major role in PD susceptibility across the populations studied.
Source: medRxiv
Language: English
Subfield: Clinical Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: green
Funders: U.S. Department of Health and Human Services, Michael J. Fox Foundation for Parkinson's Research, Bristol-Myers Squibb, Pfizer, GlaxoSmithKline, Sanofi, Yale University, American Parkinson Disease Association, Celgene, McGill University, Verily Life Sciences, Ministério da Ciência, Tecnologia e Inovação, Canada First Research Excellence Fund, Fulbright Colombia, National Institutes of Health, Fonds de Recherche du Québec - Santé, National Institute on Aging, National Institute of Neurological Disorders and Stroke
OpenAlex ID: W7215818938