Show simple item record

dc.contributor.authorMcCarthy, N.
dc.contributor.authorMelton, P.
dc.contributor.authorCadby, G.
dc.contributor.authorYazar, S.
dc.contributor.authorFranchina, M.
dc.contributor.authorMoses, Eric
dc.contributor.authorMackey, D.
dc.contributor.authorHewitt, A.
dc.date.accessioned2017-01-30T13:12:45Z
dc.date.available2017-01-30T13:12:45Z
dc.date.created2016-01-20T20:00:36Z
dc.date.issued2014
dc.identifier.citationMcCarthy, N. and Melton, P. and Cadby, G. and Yazar, S. and Franchina, M. and Moses, E. and Mackey, D. et al. 2014. Meta-analysis of human methylation data for evidence of sex-specific autosomal patterns. BMC Genomics. 15 (1): Article ID 981.
dc.identifier.urihttp://hdl.handle.net/20.500.11937/29422
dc.identifier.doi10.1186/1471-2164-15-981
dc.description.abstract

Background: Several individual studies have suggested that autosomal CpG methylation differs by sex both in terms of individual CpG sites and global autosomal CpG methylation. However, these findings have been inconsistent and plagued by spurious associations due to the cross reactivity of CpG probes on commercial microarrays. We collectively analysed 76 published studies (n = 6,795) for sex-associated differences in both autosomal and sex chromosome CpG sites. 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.

dc.titleMeta-analysis of human methylation data for evidence of sex-specific autosomal patterns
dc.typeJournal Article
dcterms.source.volume15
dcterms.source.number1
dcterms.source.titleBMC Genomics
curtin.departmentSchool of Biomedical Sciences
curtin.accessStatusOpen access via publisher


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record