Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants

Nat Commun. 2015 May 29:6:7211. doi: 10.1038/ncomms8211.

Abstract

Most genome-wide methylation studies (EWAS) of multifactorial disease traits use targeted arrays or enrichment methodologies preferentially covering CpG-dense regions, to characterize sufficiently large samples. To overcome this limitation, we present here a new customizable, cost-effective approach, methylC-capture sequencing (MCC-Seq), for sequencing functional methylomes, while simultaneously providing genetic variation information. To illustrate MCC-Seq, we use whole-genome bisulfite sequencing on adipose tissue (AT) samples and public databases to design AT-specific panels. We establish its efficiency for high-density interrogation of methylome variability by systematic comparisons with other approaches and demonstrate its applicability by identifying novel methylation variation within enhancers strongly correlated to plasma triglyceride and HDL-cholesterol, including at CD36. Our more comprehensive AT panel assesses tissue methylation and genotypes in parallel at ∼4 and ∼3 M sites, respectively. Our study demonstrates that MCC-Seq provides comparable accuracy to alternative approaches but enables more efficient cataloguing of functional and disease-relevant epigenetic and genetic variants for large-scale EWAS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adipose Tissue / metabolism*
  • CD36 Antigens / genetics*
  • CD36 Antigens / metabolism
  • Cholesterol, HDL / blood*
  • Cholesterol, HDL / genetics
  • CpG Islands
  • DNA Methylation*
  • Enhancer Elements, Genetic
  • Epigenesis, Genetic*
  • Genomics
  • Genotype
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Triglycerides / blood*
  • Triglycerides / genetics

Substances

  • CD36 Antigens
  • Cholesterol, HDL
  • Triglycerides

Associated data

  • GEO/GSE59524