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Influence of DNMT Genotype on Global and Site Specific DNA Methylation Patterns in Neonates and Pregnant Women

Lookup NU author(s): Dr Jill McKay, Dr Alexandra Groom, Professor Dianne Ford, Lisa Coneyworth, Professor John Mathers, Professor Caroline Relton



This study examines the relationship between common genetic variation within DNA methyltransferase genes and inter-individual variation in DNA methylation. Eleven polymorphisms spanning DNMT1 and DNMT3B were genotyped. Global and gene specific (IGF2, IGFBP3, ZNT5) DNA methylation was quantified by LUMA and bisulfite Pyrosequencing assays, respectively, in neonatal cord blood and in maternal peripheral blood. Associations between maternal genotype and maternal methylation (n approximate to 333), neonatal genotype and neonatal methylation (n approximate to 454), and maternal genotype and neonatal methylation (n approximate to 137) were assessed. The findings of this study provide some support to the hypothesis that genetic variation in DNA methylating enzymes influence DNA methylation at global and gene-specific levels; however observations were not robust to correction for multiple testing. More comprehensive analysis of the influence of genetic variation on global and site specific DNA methylation is warranted.

Publication metadata

Author(s): Potter C, McKay J, Groom A, Ford D, Coneyworth L, Mathers JC, Relton CL

Publication type: Article

Publication status: Published

Journal: PLoS ONE

Year: 2013

Volume: 8

Issue: 10

Online publication date: 01/10/2013

Acceptance date: 27/08/2013

Date deposited: 18/11/2014

ISSN (electronic): 1932-6203

Publisher: Public Library of Science


DOI: 10.1371/journal.pone.0076506


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Funder referenceFunder name
European Nutrigenomics Organisation (NuGO): linking genomics, nutrition and health research
NIHR Newcastle Biomedical Research Centre
BB/G007993/1Biotechnology and Biological Sciences Research Council (BBSRC)
BH081097Biotechnology and Biological Sciences Research Council (BBSRC)
CT-2004-505944FP6 European