Notes
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.
Application 20802
A replication study of pain interactions with comorbidities
Full cohort, with the possibility of adding data from the future web-based questionnaire on pain.
Lead investigator: | Professor Luda Diatchenko |
Lead institution: | McGill University |
1 related Return
Return ID | App ID | Description | Archive Date |
3034 | 20802 | Human pain genetics database: a resource dedicated to human pain genetics research | 7 Dec 2020 |