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    DNA methylation changes at infertility genes in newborn twins conceived by in vitro fertilisation

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    Author
    Castillo-Fernandez, JE; Loke, YJ; Bass-Stringer, S; Gao, F; Xia, Y; Wu, H; Lu, H; Liu, Y; Wang, J; Spector, TD; ...
    Date
    2017-03-24
    Source Title
    Genome Medicine: medicine in the post-genomic era
    Publisher
    BMC
    University of Melbourne Author/s
    Saffery, Richard; Craig, Jeffrey
    Affiliation
    Paediatrics (RCH)
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Castillo-Fernandez, J. E., Loke, Y. J., Bass-Stringer, S., Gao, F., Xia, Y., Wu, H., Lu, H., Liu, Y., Wang, J., Spector, T. D., Saffery, R., Craig, J. M. & Bell, J. T. (2017). DNA methylation changes at infertility genes in newborn twins conceived by in vitro fertilisation. GENOME MEDICINE, 9 (1), https://doi.org/10.1186/s13073-017-0413-5.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/259033
    DOI
    10.1186/s13073-017-0413-5
    Abstract
    BACKGROUND: The association of in vitro fertilisation (IVF) and DNA methylation has been studied predominantly at regulatory regions of imprinted genes and at just thousands of the ~28 million CpG sites in the human genome. METHODS: We investigated the links between IVF and DNA methylation patterns in whole cord blood cells (n = 98) and cord blood mononuclear cells (n = 82) from newborn twins using genome-wide methylated DNA immunoprecipitation coupled with deep sequencing. RESULTS: At a false discovery rate (FDR) of 5%, we identified one significant whole blood DNA methylation change linked to conception via IVF, which was located ~3 kb upstream of TNP1, a gene previously linked to male infertility. The 46 most strongly associated signals (FDR of 25%) included a second region in a gene also previously linked to infertility, C9orf3, suggesting that our findings may in part capture the effect of parental subfertility. Using twin modelling, we observed that individual-specific environmental factors appear to be the main overall contributors of methylation variability at the FDR 25% IVF-associated differentially methylated regions, although evidence for methylation heritability was also obtained at several of these regions. We replicated previous findings of differential methylation associated with IVF at the H19/IGF2 region in cord blood mononuclear cells, and we validated the signal at C9orf3 in monozygotic twins. We also explored the impact of intracytoplasmic sperm injection on the FDR 25% signals for potential effects specific to male or female infertility factors. CONCLUSIONS: To our knowledge, this is the most comprehensive study of DNA methylation profiles at birth and IVF conception to date, and our results show evidence for epigenetic modifications that may in part reflect parental subfertility.

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