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


Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • 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

Published Date

  • July 2012

Published In

Volume / Issue

  • 47 / 1

Start / End Page

  • 20 - 28

PubMed ID

  • 22433082

Pubmed Central ID

  • 22433082

Electronic International Standard Serial Number (EISSN)

  • 1095-953X

Digital Object Identifier (DOI)

  • 10.1016/j.nbd.2012.03.020


  • eng

Conference Location

  • United States