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01-02-2020 | Frontotemporal Dementia | Original Paper

Overlapping genetic architecture between Parkinson disease and melanoma

Authors: Umber Dube, Laura Ibanez, John P. Budde, Bruno A. Benitez, Albert A. Davis, Oscar Harari, Mark M. Iles, Matthew H. Law, Kevin M. Brown, Carlos Cruchaga, 23andMe Research Team, Melanoma-Meta-analysis Consortium

Published in: Acta Neuropathologica | Issue 2/2020

Abstract

Epidemiologic studies have reported inconsistent results regarding an association between Parkinson disease (PD) and cutaneous melanoma (melanoma). Identifying shared genetic architecture between these diseases can support epidemiologic findings and identify common risk genes and biological pathways. Here, we apply polygenic, linkage disequilibrium-informed methods to the largest available case–control, genome-wide association study summary statistic data for melanoma and PD. We identify positive and significant genetic correlation (correlation: 0.17, 95% CI 0.10–0.24; P = 4.09 × 10⁻⁰⁶) between melanoma and PD. We further demonstrate melanoma and PD-inferred gene expression to overlap across tissues (correlation: 0.14, 95% CI 0.06 to 0.22; P = 7.87 × 10⁻⁰⁴) and highlight seven genes including PIEZO1, TRAPPC2L, and SOX6 as potential mediators of the genetic correlation between melanoma and PD. These findings demonstrate specific, shared genetic architecture between PD and melanoma that manifests at the level of gene expression.

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Title: Overlapping genetic architecture between Parkinson disease and melanoma
Authors: Umber Dube
Laura Ibanez
John P. Budde
Bruno A. Benitez
Albert A. Davis
Oscar Harari
Mark M. Iles
Matthew H. Law
Kevin M. Brown
Carlos Cruchaga
23andMe Research Team
Melanoma-Meta-analysis Consortium
Publication date: 01-02-2020
Publisher: Springer Berlin Heidelberg
Keywords: Frontotemporal Dementia
Melanoma
Melanoma
Frontotemporal Dementia
Parkinson's Disease
Published in: Acta Neuropathologica / Issue 2/2020
Print ISSN: 0001-6322
Electronic ISSN: 1432-0533
DOI: https://doi.org/10.1007/s00401-019-02110-z

2024 ASCO Annual Meeting

Springer Medicine

Overlapping genetic architecture between Parkinson disease and melanoma

Abstract

2024 ASCO Annual Meeting

Springer Medicine

Abstract

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