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

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 auto...

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Bibliographic Details
Published in:Clinical epigenetics 2022-05, Vol.14 (1), p.62-62, Article 62
Main Authors: Grant, Olivia A, Wang, Yucheng, Kumari, Meena, Zabet, Nicolae Radu, Schalkwyk, Leonard
Format: Article
Language:English
Subjects:
Analysis
B cells
Bias
Blood
Cancer
CpG Islands
Disease
DNA
DNA binding proteins
DNA Methylation
Enhancers
Epigenesis, Genetic
Epigenetic inheritance
Epigenetics
Epigenomics
ESR1 protein
Female
Females
Gender differences
Gene expression
Genes
Genetic research
Genetic transcription
Genomes
Hormones
Humans
Male
Males
Methylation
Sex Characteristics
Sex chromosomes
Sex determination
Sex differences
Shores
Transcription factors
X chromosomes
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Summary: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. 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. 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.
ISSN:1868-7075
1868-7083
1868-7083
1868-7075
DOI:10.1186/s13148-022-01279-7