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

Publication ,  Journal Article
Parisien, M; Khoury, S; Chabot-Doré, A-J; Sotocinal, SG; Slade, GD; Smith, SB; Fillingim, RB; Ohrbach, R; Greenspan, JD; Maixner, W; Mogil, JS ...
Published in: Cell Rep
May 30, 2017

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.

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Published In

Cell Rep

DOI

EISSN

2211-1247

Publication Date

May 30, 2017

Volume

19

Issue

9

Start / End Page

1940 / 1952

Location

United States

Related Subject Headings

  • Transcriptome
  • Quantitative Trait Loci
  • Phenotype
  • Pain
  • Mice
  • Humans
  • Genome-Wide Association Study
  • Genetic Variation
  • Genetic Loci
  • Gene Expression Regulation
 

Citation

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Parisien, M., Khoury, S., Chabot-Doré, A.-J., Sotocinal, S. G., Slade, G. D., Smith, S. B., … Diatchenko, L. (2017). Effect of Human Genetic Variability on Gene Expression in Dorsal Root Ganglia and Association with Pain Phenotypes. Cell Rep, 19(9), 1940–1952. https://doi.org/10.1016/j.celrep.2017.05.018
Parisien, Marc, Samar Khoury, Anne-Julie Chabot-Doré, Susana G. Sotocinal, Gary D. Slade, Shad B. Smith, Roger B. Fillingim, et al. “Effect of Human Genetic Variability on Gene Expression in Dorsal Root Ganglia and Association with Pain Phenotypes.Cell Rep 19, no. 9 (May 30, 2017): 1940–52. https://doi.org/10.1016/j.celrep.2017.05.018.
Parisien M, Khoury S, Chabot-Doré A-J, Sotocinal SG, Slade GD, Smith SB, et al. Effect of Human Genetic Variability on Gene Expression in Dorsal Root Ganglia and Association with Pain Phenotypes. Cell Rep. 2017 May 30;19(9):1940–52.
Parisien, Marc, et al. “Effect of Human Genetic Variability on Gene Expression in Dorsal Root Ganglia and Association with Pain Phenotypes.Cell Rep, vol. 19, no. 9, May 2017, pp. 1940–52. Pubmed, doi:10.1016/j.celrep.2017.05.018.
Parisien M, Khoury S, Chabot-Doré A-J, Sotocinal SG, Slade GD, Smith SB, Fillingim RB, Ohrbach R, Greenspan JD, Maixner W, Mogil JS, Belfer I, Diatchenko L. Effect of Human Genetic Variability on Gene Expression in Dorsal Root Ganglia and Association with Pain Phenotypes. Cell Rep. 2017 May 30;19(9):1940–1952.
Journal cover image

Published In

Cell Rep

DOI

EISSN

2211-1247

Publication Date

May 30, 2017

Volume

19

Issue

9

Start / End Page

1940 / 1952

Location

United States

Related Subject Headings

  • Transcriptome
  • Quantitative Trait Loci
  • Phenotype
  • Pain
  • Mice
  • Humans
  • Genome-Wide Association Study
  • Genetic Variation
  • Genetic Loci
  • Gene Expression Regulation