Skip to main content
Journal cover image

Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain.

Publication ,  Journal Article
Hernandez, DG; Nalls, MA; Moore, M; Chong, S; Dillman, A; Trabzuni, D; Gibbs, JR; Ryten, M; Arepalli, S; Weale, ME; Zonderman, AB; Troncoso, J ...
Published in: Neurobiol Dis
July 2012

Genome-wide association studies have nominated many genetic variants for common human traits, including diseases, but in many cases the underlying biological reason for a trait association is unknown. Subsets of genetic polymorphisms show a statistical association with transcript expression levels, and have therefore been nominated as expression quantitative trait loci (eQTL). However, many tissue and cell types have specific gene expression patterns and so it is not clear how frequently eQTLs found in one tissue type will be replicated in others. In the present study we used two appropriately powered sample series to examine the genetic control of gene expression in blood and brain. We find that while many eQTLs associated with human traits are shared between these two tissues, there are also examples where blood and brain differ, either by restricted gene expression patterns in one tissue or because of differences in how genetic variants are associated with transcript levels. These observations suggest that design of eQTL mapping experiments should consider tissue of interest for the disease or other traits studied.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

Neurobiol Dis

DOI

EISSN

1095-953X

Publication Date

July 2012

Volume

47

Issue

1

Start / End Page

20 / 28

Location

United States

Related Subject Headings

  • Quantitative Trait Loci
  • Polymorphism, Single Nucleotide
  • Neurology & Neurosurgery
  • Humans
  • Genome-Wide Association Study
  • Gene Expression Regulation
  • Gene Expression Profiling
  • Brain
  • Blood
  • 3209 Neurosciences
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Hernandez, D. G., Nalls, M. A., Moore, M., Chong, S., Dillman, A., Trabzuni, D., … Cookson, M. R. (2012). Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain. Neurobiol Dis, 47(1), 20–28. https://doi.org/10.1016/j.nbd.2012.03.020
Hernandez, Dena G., Mike A. Nalls, Matthew Moore, Sean Chong, Allissa Dillman, Daniah Trabzuni, J Raphael Gibbs, et al. “Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain.Neurobiol Dis 47, no. 1 (July 2012): 20–28. https://doi.org/10.1016/j.nbd.2012.03.020.
Hernandez DG, Nalls MA, Moore M, Chong S, Dillman A, Trabzuni D, et al. Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain. Neurobiol Dis. 2012 Jul;47(1):20–8.
Hernandez, Dena G., et al. “Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain.Neurobiol Dis, vol. 47, no. 1, July 2012, pp. 20–28. Pubmed, doi:10.1016/j.nbd.2012.03.020.
Hernandez DG, Nalls MA, Moore M, Chong S, Dillman A, Trabzuni D, Gibbs JR, Ryten M, Arepalli S, Weale ME, Zonderman AB, Troncoso J, O’Brien R, Walker R, Smith C, Bandinelli S, Traynor BJ, Hardy J, Singleton AB, Cookson MR. Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain. Neurobiol Dis. 2012 Jul;47(1):20–28.
Journal cover image

Published In

Neurobiol Dis

DOI

EISSN

1095-953X

Publication Date

July 2012

Volume

47

Issue

1

Start / End Page

20 / 28

Location

United States

Related Subject Headings

  • Quantitative Trait Loci
  • Polymorphism, Single Nucleotide
  • Neurology & Neurosurgery
  • Humans
  • Genome-Wide Association Study
  • Gene Expression Regulation
  • Gene Expression Profiling
  • Brain
  • Blood
  • 3209 Neurosciences