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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 (≈) 333), neonatal genotype and neonatal methylation (n (≈) 454), and maternal genotype and neonatal methylation (n (≈) 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.


Catherine Potter, Jill McKay, Alexandra Groom, Dianne Ford, Lisa Coneyworth, John C Mathers, Caroline L Relton. Influence of DNMT genotype on global and site specific DNA methylation patterns in neonates and pregnant women. PloS one. 2013;8(10):e76506

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PMID: 24098518

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