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Guthrie card methylomics identifies temporally stable epialleles that are present at birth in humans

Beyan, Huriya; Down, Thomas A.; Ramagopalan, Sreeram V.; Uvebrant, Kristina; Ramelius, Anita LU ; Holland, Michelle L.; Gemma, Carolina; Giovannoni, Gavin; Boehm, Bernhard O. and Ebers, George C., et al. (2012) In Genome Research 22(11). p.2138-2145
Abstract
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... (More)
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. (Less)
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Contribution to journal
publication status
published
subject
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Genome Research
volume
22
issue
11
pages
2138 - 2145
publisher
Cold Spring Harbor Laboratory Press
external identifiers
  • wos:000310584400006
  • scopus:84868103364
ISSN
1549-5469
DOI
10.1101/gr.134304.111
language
English
LU publication?
yes
id
b763c47b-4325-4bb5-a61b-e08f497bfb96 (old id 3259349)
date added to LUP
2013-01-07 09:38:19
date last changed
2017-09-03 04:02:04
@article{b763c47b-4325-4bb5-a61b-e08f497bfb96,
  abstract     = {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.},
  author       = {Beyan, Huriya and Down, Thomas A. and Ramagopalan, Sreeram V. and Uvebrant, Kristina and Ramelius, Anita and Holland, Michelle L. and Gemma, Carolina and Giovannoni, Gavin and Boehm, Bernhard O. and Ebers, George C. and Lernmark, Åke and Cilio, Corrado and Leslie, R. David and Rakyan, Vardhman K.},
  issn         = {1549-5469},
  language     = {eng},
  number       = {11},
  pages        = {2138--2145},
  publisher    = {Cold Spring Harbor Laboratory Press},
  series       = {Genome Research},
  title        = {Guthrie card methylomics identifies temporally stable epialleles that are present at birth in humans},
  url          = {http://dx.doi.org/10.1101/gr.134304.111},
  volume       = {22},
  year         = {2012},
}