Article thumbnail

The role of heritability in mapping expression quantitative trait loci

By Song Huang, David Ballard and Hongyu Zhao


Gene expression, as a heritable complex trait, has recently been used in many genome-wide linkage studies. The estimated overall heritability of each trait may be considered as evidence of a genetic contribution to the total phenotypic variation, which implies the possibility of mapping genome regions responsible for the gene expression variation via linkage analysis. However, heritability has been found to be an inconsistent predictor of significant linkage signals. To investigate this issue in human studies, we performed genome-wide linkage analysis on the 3554 gene expression traits of 194 Centre d'Etude du Polymorphisme Humain individuals provided by Genetic Analysis Workshop 15. Out of the 422 expression traits with significant linkage signals identified (LOD > 5.3), 89 traits have low estimated heritability (h2 < 10%), among which 23 traits have an estimated heritability equal to 0. The linkage analysis on individual pedigree shows that the overall LOD scores may result from a few pedigrees with strong linkage signals. Screening gene expressions before linkage analysis using a relatively low heritability (h2 < 20%) may result in a loss of significant linkage signals, especially for trans-acting expression quantitative trait loci (49%)

Topics: Proceedings
Publisher: BioMed Central
OAI identifier:
Provided by: PubMed Central

To submit an update or takedown request for this paper, please submit an Update/Correction/Removal Request.

Suggested articles


  1. (2002). Abecasis GR: Powerful regressionbased quantitative-trait linkage analysis of general pedigrees.
  2. (2006). Aitman TJ: Heritability and tissue specificity of expression quantitative trait loci. PLoS Genet
  3. (2004). Cheung VG: Genetic analysis of genome-wide variation in human gene expression. Nature
  4. (1998). Components of environmental variation. In Genetics and Analysis of Quantitative Traits
  5. EM: Comparison of multipoint linkage analyses for quantitative traits in the CEPH data: parametric LOD scores, variance components LOD scores, and Bayes factors. BMC Proc 2007, 1(Suppl 1):S93.
  6. (2003). Friend SH: Genetics of gene expression surveyed in maize, mouse and man. Nature
  7. (2002). Kruglyak L: Genetic dissection of transcriptional regulation in budding yeast. Science
  8. (2002). LR: Merlin – rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet
  9. (2005). RW: Complex trait analysis of gene expression uncovers polygenic and pleiotropic networks that modulate nervous system function. Nat Genet
  10. (2003). Spielman RS: Natural variation in human gene expression assessed inlymphoblastoid cells. Nat Genet
  11. (2004). The genomics of gene expression. Genomics
  12. (2005). The quantitative genetics of transcription. Trends Genet