Your browser has javascript turned off or blocked. This will lead to some parts of our website to not work properly or at all. Turn on javascript for best performance.

The browser you are using is not supported by this website. All versions of Internet Explorer are no longer supported, either by us or Microsoft (read more here: https://www.microsoft.com/en-us/microsoft-365/windows/end-of-ie-support).

Please use a modern browser to fully experience our website, such as the newest versions of Edge, Chrome, Firefox or Safari etc.

Default user image.

Anita Ramelius

Biomedical analyst

Default user image.

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

Author

  • Huriya Beyan
  • Thomas A. Down
  • Sreeram V. Ramagopalan
  • Kristina Uvebrant
  • Anita Ramelius
  • Michelle L. Holland
  • Carolina Gemma
  • Gavin Giovannoni
  • Bernhard O. Boehm
  • George C. Ebers
  • Åke Lernmark
  • Corrado Cilio
  • R. David Leslie
  • Vardhman K. Rakyan

Summary, in English

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.

Department/s

  • Diabetes and Celiac Unit
  • Diabetes - Immunovirology
  • EXODIAB: Excellence of Diabetes Research in Sweden

Publishing year

2012

Language

English

Pages

2138-2145

Publication/Series

Genome Research

Volume

22

Issue

11

Document type

Journal article

Publisher

Cold Spring Harbor Laboratory Press (CSHL)

Topic

  • Genetics

Status

Published

Research group

  • Diabetes and Celiac Unit
  • Diabetes - Immunovirology

ISBN/ISSN/Other

  • ISSN: 1549-5469