ESPE2018 Poster Presentations Adrenals and HPA Axis P1 (24 abstracts)
Altered DNA Methylation in Peripheral T-cells from Patients with Congenital Adrenal Hyperplasia
Leif Karlsson a , Michela Barbaro a, , Ewoud Ewing a , David Gomez-Cabrero a, & Svetlana Lajic a
aKarolinska Institutet, Stockholm, Sweden; bKarolinska University Hospital, Stockholm, Sweden; cKings Collage, London, UK; dUniversidad Pública de Navarra, Pamplona, Spain
Background: Patients with Congenital Adrenal Hyperplasia (CAH) are at risk of several co-morbidities, such as impaired cognitive functions, short stature and adverse effects on metabolism. The causes of these effects are suboptimal glucocorticoid replacement therapy, adrenal crises and prenatal glucocorticoid exposure. However, there are no data available to this day how these factors are affecting epigenomic programs.
Objective and hypotheses: We investigated DNA methylation in patients with CAH. We hypothesized that the epigenetic programming in patients with CAH is affected.
Method: We used CD4+T-cell DNA from patients with CAH, and population controls (n=63). The Infinium HumanMethylation450 BeadChip array was used to measure locus specific DNA methylation. Statistical analyses were performed in R.
Results: By comparing DNA methylation between patients with CAH and population controls we identified differential methylation in peripheral T-cells. Changes were associated with CAH per se, but we also identified significant correlations between DNA methylation and the subject’s phenotype (salt-wasting,simple virilising or unaffected) as well as the CYP21A2 genotype.
Conclusion: Our findings suggest that DNA methylation is altered in patients with CAH. These changes may be relevant for the health of the individual.
Article tools
My recent searches
My recently viewed abstracts
ESPE Abstracts
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more