Effect of Human Genetic Variability on Gene Expression in Dorsal Root Ganglia and Association with Pain Phenotypes

Marc Parisien, Samar Khoury, Anne Julie Chabot-Doré, Susana G. Sotocinal, Gary D. Slade, Shad B. Smith, Roger B. Fillingim, Richard Ohrbach, Joel D. Greenspan, William Maixner, Jeffrey S. Mogil, Inna Belfer, Luda Diatchenko

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


Dorsal root ganglia (DRG) relay sensory information to the brain, giving rise to the perception of pain, disorders of which are prevalent and burdensome. Here, we mapped expression quantitative trait loci (eQTLs) in a collection of human DRGs. DRG eQTLs were enriched within untranslated regions of coding genes of low abundance, with some overlapping with other brain regions and blood cell cis-eQTLs. We confirm functionality of identified eQTLs through their significant enrichment within open chromatin and highly deleterious SNPs, particularly at the exon level, suggesting substantial contribution of eQTLs to alternative splicing regulation. We illustrate pain-related genetic association results explained by DRG eQTLs, with the strongest evidence for contribution of the human leukocyte antigen (HLA) locus, confirmed using a mouse inflammatory pain model. Finally, we show that DRG eQTLs are found among hits in numerous genome-wide association studies, suggesting that this dataset will help address pain components of non-pain disorders.

Original languageEnglish (US)
Pages (from-to)1940-1952
Number of pages13
JournalCell Reports
Issue number9
StatePublished - May 30 2017


  • DRG
  • GWAS
  • QST
  • SNPs
  • dorsal root ganglion
  • eQTLs
  • expression quantitative trait loci
  • genome-wide association study
  • pain
  • quantitative sensory testing
  • single nucleotide polymorphism

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology


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