Methylation of the FGFR2 gene is associated with high birth weight centile in humans

Epigenomics. 2014;6(5):477-91. doi: 10.2217/epi.14.40.


Aims: This study examined links between DNA methylation and birth weight centile (BWC), and explored the impact of genetic variation.

Materials & methods: Using HumanMethylation450 arrays, we examined candidate gene-associated CpGs in cord blood from newborns with low (<15th centile), medium (40-60th centile) and high (>85th centile) BWC (n = 12). Candidates were examined in an investigation cohort (n = 110) using pyrosequencing and genotyping for putative methylation-associated polymorphisms performed using standard PCR.

Results: Array analysis identified 314 candidate genes associated with BWC extremes, four of which showed ≥ 4 BWC-linked CpGs. Of these, PM20D1 and MI886 suggested genetically determined methylation levels. However, methylation at three CpGs in FGFR2 remained significantly associated with high BWC (p = 0.004-0.027).

Conclusion: We identified a novel biologically plausible candidate (FGFR2) for with BWC that merits further study.

Keywords: DNA methylation; FGFR2; birth weight centile; cord blood; epigenetic-genetic interactions.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Birth Weight / genetics*
  • CpG Islands
  • DNA Methylation*
  • Female
  • Gene Expression Profiling
  • Genetic Association Studies*
  • Genotype
  • Humans
  • Infant, Newborn
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics*
  • Reproducibility of Results
  • Young Adult


  • Receptor, Fibroblast Growth Factor, Type 2