Comparison of whole-genome DNA methylation patterns in whole blood, saliva, and lymphoblastoid cell lines

Behav Genet. 2013 Mar;43(2):168-76. doi: 10.1007/s10519-012-9579-1. Epub 2012 Dec 27.


Epigenetic mechanisms, including DNA methylation, that underlie neuropsychiatric conditions have become a promising area of research. Most commonly used DNA sources in such studies are peripheral (whole) blood (WB), saliva (SL), and lymphoblastoid cell lines (LCLs); thus, the question of the consistency of DNA methylation patterns in those cells is of particular interest. To investigate this question we performed comparative analyses of methylation patterns in WB, SL, and LCLs derived from the same individuals, using Illumina HumanMethylation27 BeadChip arrays. Our results showed that DNA methylation patterns in SL are relatively consistent with those in WB, whereas the patterns in LCLs are similarly distinct from both WB and SL. The results indicated that due to multiple random and directed changes in DNA methylation throughout cell culturing, LCLs are not a reliable source of DNA for epigenetic studies and should be used with caution when investigating epigenetic mechanisms underlying biological processes.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Adult
  • Blood Chemical Analysis / methods
  • Cell Line
  • Child
  • DNA Methylation*
  • Epigenesis, Genetic
  • Female
  • Gene Expression Profiling / methods*
  • Humans
  • Lymphocytes*
  • Male
  • Middle Aged
  • Saliva / chemistry
  • Young Adult