Genome-wide association study implicates CHRNA2 in cannabis use disorder

Nat Neurosci. 2019 Jul;22(7):1066-1074. doi: 10.1038/s41593-019-0416-1. Epub 2019 Jun 17.

Abstract

Cannabis is the most frequently used illicit psychoactive substance worldwide; around one in ten users become dependent. The risk for cannabis use disorder (CUD) has a strong genetic component, with twin heritability estimates ranging from 51 to 70%. Here we performed a genome-wide association study of CUD in 2,387 cases and 48,985 controls, followed by replication in 5,501 cases and 301,041 controls. We report a genome-wide significant risk locus for CUD (P = 9.31 × 10-12) that replicates in an independent population (Preplication = 3.27 × 10-3, Pmeta-analysis = 9.09 × 10-12). The index variant (rs56372821) is a strong expression quantitative trait locus for cholinergic receptor nicotinic α2 subunit (CHRNA2); analyses of the genetically regulated gene expression identified a significant association of CHRNA2 expression with CUD in brain tissue. At the polygenic level, analyses revealed a significant decrease in the risk of CUD with increased load of variants associated with cognitive performance. The results provide biological insights and inform on the genetic architecture of CUD.

Publication types

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

MeSH terms

  • Age of Onset
  • Alleles
  • Attention Deficit Disorder with Hyperactivity / genetics
  • Brain / metabolism
  • Case-Control Studies
  • Chromosomes, Human, Pair 8 / genetics
  • Cognition / physiology
  • Cohort Studies
  • Confounding Factors, Epidemiologic
  • Denmark
  • Educational Status
  • Female
  • Gene Expression Profiling
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Humans
  • Iceland
  • Male
  • Marijuana Abuse / genetics*
  • Multifactorial Inheritance
  • Nerve Tissue Proteins / biosynthesis
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / physiology*
  • Polymorphism, Single Nucleotide
  • Quantitative Trait Loci
  • Receptors, Nicotinic / biosynthesis
  • Receptors, Nicotinic / genetics
  • Receptors, Nicotinic / physiology*
  • Schizophrenia / genetics
  • Smoking / genetics
  • Transcriptome

Substances

  • CHRNA2 protein, human
  • Nerve Tissue Proteins
  • Receptors, Nicotinic