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- Title
CpG Methylation Changes within the <i>IL2RA</i> Promoter in Type 1 Diabetes of Childhood Onset.
- Authors
Belot, Marie-Pierre; Fradin, Delphine; Mai, Nga; Le Fur, Sophie; Zélénika, Diana; Kerr-Conte, Julie; Pattou, François; Lucas, Bruno; Bougnères, Pierre
- Abstract
None of the polymorphic variants of the IL2RA gene found associated with Type 1 Diabetes (T1D) was shown to have a functional effect. To test if the epigenetic variation could play a role at this locus, we studied the methylation of 6 CpGs located within the proximal promoter of IL2RA gene in 252 T1D patients compared with 286 age-matched controls. We found that DNA methylation at CpGs −373 and −456 was slightly but significantly higher in patients than in controls (40.4±4.6 vs 38.3±5.4, p = 1.4E4; 91.4±2.8 vs 89.5±5.3, p = 1.8E-6), while other CpG showed a strictly comparable methylation. Among 106 single nucleotide polymorphisms (SNPs) located in the neighboring 180kb region, we found that 28 SNPs were associated with DNA methylation at CpG −373. Sixteen of these SNPs were known to be associated with T1D. Our findings suggest that the effect of IL2RA risk alleles on T1D may be partially mediated through epigenetic changes.
- Subjects
TYPE 1 diabetes; PROMOTERS (Genetics); DIABETES in children; DNA methylation; GENETIC polymorphisms; SINGLE nucleotide polymorphisms
- Publication
PLoS ONE, 2013, Vol 8, Issue 7, p1
- ISSN
1932-6203
- Publication type
Article
- DOI
10.1371/journal.pone.0068093