Heritability and genomics of gene expression in peripheral blood

Fred A. Wright, Patrick F. Sullivan, Andrew I. Brooks, Fei Zou, Wei Sun, Kai Xia, Vered Madar, Rick Jansen, Wonil Chung, Yi Hui Zhou, Abdel Abdellaoui, Sandra Batista, Casey Butler, Guanhua Chen, Ting Huei Chen, David D'Ambrosio, Paul Gallins, Min Jin Ha, Jouke Jan Hottenga, Shunping HuangMathijs Kattenberg, Jaspreet Kochar, Christel M. Middeldorp, Ani Qu, Andrey Shabalin, Jay Tischfield, Laura Todd, Jung Ying Tzeng, Gerard Van Grootheest, Jacqueline M. Vink, Qi Wang, Wei Wang, Weibo Wang, Gonneke Willemsen, Johannes H. Smit, Eco J. De Geus, Zhaoyu Yin, Brenda W.J.H. Penninx, Dorret I. Boomsma

Research output: Contribution to journalArticlepeer-review

248 Citations (Scopus)


We assessed gene expression profiles in 2,752 twins, using a classic twin design to quantify expression heritability and quantitative trait loci (eQTLs) in peripheral blood. The most highly heritable genes (â ̂1/4777) were grouped into distinct expression clusters, enriched in gene-poor regions, associated with specific gene function or ontology classes, and strongly associated with disease designation. The design enabled a comparison of twin-based heritability to estimates based on dizygotic identity-by-descent sharing and distant genetic relatedness. Consideration of sampling variation suggests that previous heritability estimates have been upwardly biased. Genotyping of 2,494 twins enabled powerful identification of eQTLs, which we further examined in a replication set of 1,895 unrelated subjects. A large number of non-redundant local eQTLs (6,756) met replication criteria, whereas a relatively small number of distant eQTLs (165) met quality control and replication standards. Our results provide a new resource toward understanding the genetic control of transcription.

Original languageEnglish
Pages (from-to)430-437
Number of pages8
JournalNature Genetics
Issue number5
Publication statusPublished - 2014 May

All Science Journal Classification (ASJC) codes

  • Genetics


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