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    Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X

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    Author
    Arpone, M; Baker, EK; Bretherton, L; Bui, M; Li, X; Whitaker, S; Dissanayake, C; Cohen, J; Hickerton, C; Rogers, C; ...
    Date
    2018-02-26
    Source Title
    Scientific Reports
    Publisher
    NATURE PUBLISHING GROUP
    University of Melbourne Author/s
    Bretherton, Lesley; Amor, David; Hickerton, Chriselle; Bui, Quang; Godler, David; Arpone, Marta; Baker, Emma
    Affiliation
    Melbourne School of Population and Global Health
    Melbourne School of Psychological Sciences
    Paediatrics (RCH)
    Melbourne Law School
    Metadata
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    Document Type
    Journal Article
    Citations
    Arpone, M., Baker, E. K., Bretherton, L., Bui, M., Li, X., Whitaker, S., Dissanayake, C., Cohen, J., Hickerton, C., Rogers, C., Field, M., Elliott, J., Aliaga, S. M., Ling, L., Francis, D., Hearps, S. J. C., Hunter, M. F., Amor, D. J. & Godler, D. E. (2018). Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X. SCIENTIFIC REPORTS, 8 (1), https://doi.org/10.1038/s41598-018-21990-x.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/255916
    DOI
    10.1038/s41598-018-21990-x
    Abstract
    Increased intragenic DNA methylation of the Fragile X Related Epigenetic Element 2 (FREE2) in blood has been correlated with lower intellectual functioning in females with fragile X syndrome (FXS). This study explored these relationships in a paediatric cohort of males with FXS using Buccal Epithelial Cells (BEC). BEC were collected from 25 males with FXS, aged 3 to 17 years and 19 age-matched male controls without FXS. Methylation of 9 CpG sites within the FREE2 region was examined using the EpiTYPER approach. Full Scale IQ (FSIQ) scores of males with FXS were corrected for floor effect using the Whitaker and Gordon (WG) extrapolation method. Compared to controls, children with FXS had significant higher methylation levels for all CpG sites examined (p < 3.3 × 10-7), and within the FXS group, lower FSIQ (WG corrected) was associated with higher levels of DNA methylation, with the strongest relationship found for CpG sites within FMR1 intron 1 (p < 5.6 × 10-5). Applying the WG method to the FXS cohort unmasked significant epi-genotype-phenotype relationships. These results extend previous evidence in blood to BEC and demonstrate FREE2 DNA methylation to be a sensitive epigenetic biomarker significantly associated with the variability in intellectual functioning in FXS.

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