Epigenome-wide analysis uncovers a blood-based DNA methylation biomarker of lifetime cannabis use

Am J Med Genet B Neuropsychiatr Genet. 2021 Apr;186(3):173-182. doi: 10.1002/ajmg.b.32813. Epub 2020 Aug 17.

Abstract

Cannabis use is highly prevalent and is associated with adverse and beneficial effects. To better understand the full spectrum of health consequences, biomarkers that accurately classify cannabis use are needed. DNA methylation (DNAm) is an excellent candidate, yet no blood-based epigenome-wide association studies (EWAS) in humans exist. We conducted an EWAS of lifetime cannabis use (ever vs. never) using blood-based DNAm data from a case-cohort study within Sister Study, a prospective cohort of women at risk of developing breast cancer (Discovery N = 1,730 [855 ever users]; Replication N = 853 [392 ever users]). We identified and replicated an association with lifetime cannabis use at cg15973234 (CEMIP): combined p = 3.3 × 10-8 . We found no overlap between published blood-based cis-meQTLs of cg15973234 and reported lifetime cannabis use-associated single nucleotide polymorphism (SNPs; p < .05), suggesting that the observed DNAm difference was driven by cannabis exposure. We also developed a multi-CpG classifier of lifetime cannabis use using penalized regression of top EWAS CpGs. The resulting 50-CpG classifier produced an area under the curve (AUC) = 0.74 (95% CI [0.72, 0.76], p = 2.00 × 10-5 ) in the discovery sample and AUC = 0.54 ([0.51, 0.57], p = 2.87 × 10-2 ) in the replication sample. Our EWAS findings provide evidence that blood-based DNAm is associated with lifetime cannabis use.

Keywords: DNA methylation; EWAS; biomarker; cannabis; epigenome-wide association study; marijuana.

Publication types

  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Cannabis / chemistry*
  • Case-Control Studies
  • DNA Methylation*
  • Epigenesis, Genetic*
  • Epigenome*
  • Female
  • Genetic Markers*
  • Genome-Wide Association Study*
  • Humans
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Prospective Studies
  • Substance-Related Disorders / blood
  • Substance-Related Disorders / genetics*
  • Substance-Related Disorders / pathology

Substances

  • Genetic Markers