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E-GEOD-37966 - Guthrie card methylomics identifies temporally stable epialleles that are present at birth in humans (Methylation BeadChip)

Released on 27 August 2012, last updated on 4 October 2012
Homo sapiens
Samples (7)
Array (1)
Protocols (6)
A major concern in common disease epigenomics is distinguishing causal from consequential epigenetic variation. One means of addressing this issue is to identify the temporal origins of epigenetic variants via longitudinal analyses. However, prospective birth-cohort studies are expensive and time-consuming. Here we report DNA methylomics of archived Guthrie cards for the retrospective longitudinal analyses of in utero-derived DNA methylation variation. We first validate two methodologies for generating comprehensive DNA methylomes from Guthrie cards. Then, using an integrated epigenomic/genomic analysis of Guthrie cards and follow-up samplings, we identify inter-individual DNA methylation variation that is present both at birth and three years later. These findings suggest that disease-relevant epigenetic variation could be detected at birth i.e. before overt clinical disease. Guthrie card methylomics offers a potentially powerful and cost-effective strategy for studying the dynamics of inter-individual epigenomic variation in a range of common human diseases. Bisulphite converted DNA was hybridised to the Illumina Infinium 450k Human Methylation Beadchip
Experiment type
methylation profiling by array 
Thomas A Down <>, A Lernmark, A Nilsson, B O Boehm, C Gemma, C M Cilio, G C Ebers, G Giovannoni, H Beyan, K Uvebrant, M L Holland, R D Leslie, S V Ramagopalan, T A Down, V K Rakyan
Guthrie card methylomics identifies temporally stable epialleles that are present at birth in humans. Beyan H, Down T, Ramagopalan S, Uvebrant K, Nilsson A, Holland M, Gemma C, Giovannoni G, Boehm B, Ebers G, Lernmark A, Cilio CM, Leslie D, Rakyan V. , PMID:22919074
Investigation descriptionE-GEOD-37966.idf.txt
Sample and data relationshipE-GEOD-37966.sdrf.txt
Processed data (1)
Additional data (1)
Array designA-GEOD-13534.adf.txt