Epigenome-wide study identifies novel methylation loci associated with body mass index and waist circumference

Obesity (Silver Spring). 2015 Jul;23(7):1493-501. doi: 10.1002/oby.21111.

Abstract

Objective: To conduct an epigenome-wide analysis of DNA methylation and obesity traits.

Methods: DNA methylation was quantified in CD4+ T-cells using the Illumina Infinium HumanMethylation450 array in 991 participants of the Genetics of Lipid Lowering Drugs and Diet Network. Methylation at individual cytosine-phosphate-guanine (CpG) sites as a function of body mass index (BMI) and waist circumference (WC), adjusting for age, gender, study site, T-cell purity, smoking, and family structure, was modeled.

Results: Epigenome-wide significant associations between eight CpG sites and BMI and five CpG sites and WC, successfully replicating the top hits in whole blood samples from the Framingham Heart Study (n = 2,377) and the Atherosclerosis Risk in Communities study (n = 2,097), were found. Top findings were in CPT1A (meta-analysis P = 2.7 × 10(-43) for BMI and 9.9 × 10(-23) for WC), PHGDH (meta-analysis P = 2.0 × 10(-15) for BMI and 4.0 × 10(-9) for WC), CD38 (meta-analysis P = 6.3 × 10(-11) for BMI and 1.6 × 10(-12) for WC), and long intergenic non-coding RNA 00263 (meta-analysis P = 2.2 × 10(-16) for BMI and 8.9 × 10(-14) for WC), regions with biologically plausible relationships to adiposity.

Conclusions: This large-scale epigenome-wide study discovered and replicated robust associations between DNA methylation at CpG loci and obesity indices, laying the groundwork for future diagnostic and/or therapeutic applications.

Publication types

  • Research Support, American Recovery and Reinvestment Act
  • Research Support, N.I.H., Extramural

MeSH terms

  • Body Mass Index
  • Carnitine O-Palmitoyltransferase / genetics*
  • DNA Methylation / genetics*
  • Epigenesis, Genetic / genetics*
  • Epigenomics / methods*
  • Female
  • Gene Expression Regulation / physiology
  • Genome-Wide Association Study / methods*
  • Humans
  • Male
  • Middle Aged
  • Obesity / genetics
  • Phenotype
  • Waist Circumference / genetics*

Substances

  • CPT1A protein, human
  • Carnitine O-Palmitoyltransferase