Journal article

Interleukin-2 receptor-alpha proximal promoter hypomethylation is associated with multiple sclerosis

J Field, A Fox, MA Jordan, AG Baxter, T Spelman, M Gresle, H Butzkueven, TJ Kilpatrick, JP Rubio



Genetic studies have demonstrated association between single-nucleotide polymorphisms within the IL2RA (interleukin-2 receptor α-subunit) gene and risk of developing multiple sclerosis (MS); however, these variants do not have obvious functional consequences. DNA methylation is a source of genetic variation that could impact on autoimmune disease risk. We investigated DNA methylation of the IL2RA promoter in genomic DNA obtained from peripheral blood mononuclear cells and neural tissue using matrix-assisted laser desorption/ionization-time of flight (MALDI-TOF) mass spectrometry. A differential methylation profile of IL2RA was identified, suggesting that IL2RA expression was regulated by DNA..

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Awarded by NHMRC

Funding Acknowledgements

We thank all the people with MS and control persons who participated in this study, and are grateful to Jennifer Eckholdt and John Carey for their assistance with the collection of blood samples for this study. This work was supported by NHMRC Project Grants (nos 257518 and 509184) and JF was supported by a Multiple Sclerosis Research Australia Fellowship. This work was also funded by Multiple Sclerosis Research Australia, National Health and Medical Research Council Australia, Lions International and Rebecca L Cooper Foundation. MAJ is supported by an NHMRC/MSRA Betty Cuthbert fellowship. AGB is supported by an Australian National Health and Medical Research Council (NHMRC) Research Fellowship.