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Characterising sex differences of autosomal DNA methylation in whole blood using the Illumina EPIC array.

Grant, Olivia A and Wang, Yucheng and Kumari, Meena and Zabet, Nicolae Radu and Schalkwyk, Leonard (2022) 'Characterising sex differences of autosomal DNA methylation in whole blood using the Illumina EPIC array.' Clinical Epigenetics, 14 (1). 62-. ISSN 1868-7083

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Background Sex differences are known to play a role in disease aetiology, progression and outcome. Previous studies have revealed autosomal epigenetic differences between males and females in some tissues, including differences in DNA methylation patterns. Here, we report for the first time an analysis of autosomal sex differences in DNAme using the Illumina EPIC array in human whole blood by performing a discovery (n = 1171) and validation (n = 2471) analysis. Results We identified and validated 396 sex-associated differentially methylated CpG sites (saDMPs) with the majority found to be female-biased CpGs (74%). These saDMP’s are enriched in CpG islands and CpG shores and located preferentially at 5’UTRs, 3’UTRs and enhancers. Additionally, we identified 266 significant sex-associated differentially methylated regions overlapping genes, which have previously been shown to exhibit epigenetic sex differences, and novel genes. Transcription factor binding site enrichment revealed enrichment of transcription factors related to critical developmental processes and sex determination such as SRY and ESR1. Conclusion Our study reports a reliable catalogue of sex-associated CpG sites and elucidates several characteristics of these sites using large-scale discovery and validation data sets. This resource will benefit future studies aiming to investigate sex specific epigenetic signatures and further our understanding of the role of DNA methylation in sex differences in human whole blood.

Item Type: Article
Uncontrolled Keywords: CpG Islands; DNA Methylation; Epigenesis, Genetic; Epigenomics; Female; Humans; Male; Sex Characteristics
Divisions: Faculty of Science and Health
Faculty of Social Sciences
Faculty of Science and Health > Life Sciences, School of
Faculty of Social Sciences > Institute for Social and Economic Research
SWORD Depositor: Elements
Depositing User: Elements
Date Deposited: 25 Sep 2022 15:16
Last Modified: 25 Sep 2022 15:16

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