RT Journal
A1 Beyan, Huriya
A1 Down, Thomas A.
A1 Ramagopalan, Sreeram V.
A1 Uvebrant, Kristina
A1 Nilsson, Anita
A1 Holland, Michelle L.
A1 Gemma, Carolina
A1 Giovannoni, Gavin
A1 Boehm, Bernhard O.
A1 Ebers, George C.
A1 Lernmark, Åke
A1 Cilio, Corrado M.
A1 Leslie, R. David
A1 Rakyan, Vardhman K.
T1 Guthrie card methylomics identifies temporally stable epialleles that are present at birth in humans
JF Genome Research 
JO Genome Research 
YR 2012 
FD November 01 
VO 22 
IS 11 
SP 2138 
OP 2145 
DO 10.1101/gr.134304.111 
UL http://genome.cshlp.org/content/22/11/2138.abstract 
AB 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 interindividual DNA methylation variation that is present both at birth and 3 yr 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 interindividual epigenomic variation in a range of common human diseases.