McCarthy, NS and Melton, PE and Cadby, G and Yazar, S and Franchina, M and Moses, EK and Mackey, DA and Hewitt, A, Meta-analysis of human methylation data for evidence of sex-specific autosomal patterns, BMC Genomics, 15 Article 981. ISSN 1471-2164 (2014) [Refereed Article]
Copyright 2016 The Authors. Licensed under Creative Commons Attribution 4.0 International (CC BY 4.0) https://creativecommons.org/licenses/by/4.0/
RESULTS: Overall autosomal methylation profiles varied substantially by study, and we encountered substantial batch effects. We accounted for these by conducting random effects meta-analysis for individual autosomal CpG methylation associations. After excluding non-specific probes, we found 184 autosomal CpG sites differentially methylated by sex after correction for multiple testing. In line with previous studies, average beta differences were small. Many of the most significantly associated CpG probes were new. Of note was differential CpG methylation in the promoters of genes thought to be involved in spermatogenesis and male fertility, such as SLC9A2, SPESP1, CRISP2, and NUPL1. Pathway analysis revealed overrepresentation of genes differentially methylated by sex in several broad Gene Ontology biological processes, including RNA splicing and DNA repair.
CONCLUSIONS: This study represents a comprehensive analysis of sex-specific methylation patterns. We demonstrate the existence of sex-specific methylation profiles and report a large number of novel DNA methylation differences in autosomal CpG sites between sexes.
|Item Type:||Refereed Article|
|Keywords:||Methylation, Genome, Sex, CpG, Illumina Infinium HumanMethylation27K, Meta- analysis|
|Research Division:||Biomedical and Clinical Sciences|
|Research Group:||Ophthalmology and optometry|
|Objective Group:||Clinical health|
|Objective Field:||Clinical health not elsewhere classified|
|UTAS Author:||Mackey, DA (Professor David Mackey)|
|UTAS Author:||Hewitt, A (Professor Alex Hewitt)|
|Web of Science® Times Cited:||45|
|Deposited By:||Menzies Institute for Medical Research|
|Downloads:||145 View Download Statistics|
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