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American Association for the Advancement of Science, Science Translational Medicine, 633(14), 2022

DOI: 10.1126/scitranslmed.abj0264

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Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

Journal article published in 2022 by Paul J. Hop ORCID, Carla J. H. van der Kallen, Ruud van der Breggen, Peter van ‘t Hof, Ramona A. J. Zwamborn, Eilis Hannon ORCID, Gemma L. Shireby, Marta F. Nabais, Joke J. F. A. van Vugt, Emma M. Walker ORCID, Wouter van Rheenen, Annelot M. Dekker, Henk-Jan Westeneng, Gijs H. P. Tazelaar, Ahmad Al Khleifat and other authors.
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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Data provided by SHERPA/RoMEO

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with an estimated heritability between 40 and 50%. DNA methylation patterns can serve as proxies of (past) exposures and disease progression, as well as providing a potential mechanism that mediates genetic or environmental risk. Here, we present a blood-based epigenome-wide association study meta-analysis in 9706 samples passing stringent quality control (6763 patients, 2943 controls). We identified a total of 45 differentially methylated positions (DMPs) annotated to 42 genes, which are enriched for pathways and traits related to metabolism, cholesterol biosynthesis, and immunity. We then tested 39 DNA methylation–based proxies of putative ALS risk factors and found that high-density lipoprotein cholesterol, body mass index, white blood cell proportions, and alcohol intake were independently associated with ALS. Integration of these results with our latest genome-wide association study showed that cholesterol biosynthesis was potentially causally related to ALS. Last, DNA methylation at several DMPs and blood cell proportion estimates derived from DNA methylation data were associated with survival rate in patients, suggesting that they might represent indicators of underlying disease processes potentially amenable to therapeutic interventions.