Rxivist logo

Abundant contribution of short tandem repeats to gene expression variation in humans

By Melissa Gymrek, Thomas Willems, Haoyang Zeng, Barak Markus, Mark J Daly, Alkes L. Price, Jonathan Pritchard, Yaniv Erlich

Posted 02 Apr 2015
bioRxiv DOI: 10.1101/017459 (published DOI: 10.1038/ng.3461)

Expression quantitative trait loci (eQTLs) are a key tool to dissect cellular processes mediating complex diseases. However, little is known about the role of repetitive elements as eQTLs. We report a genome-wide survey of the contribution of Short Tandem Repeats (STRs), one of the most polymorphic and abundant repeat classes, to gene expression in humans. Our survey identified 2,060 significant expression STRs (eSTRs). These eSTRs were replicable in orthogonal populations and expression assays. We used variance partitioning to disentangle the contribution of eSTRs from linked SNPs and indels and found that eSTRs contribute 10%-15% of the cis-heritability mediated by all common variants. Functional genomic analyses showed that eSTRs are enriched in conserved regions, co-localize with regulatory elements, and are predicted to modulate histone modifications. Our results show that eSTRs provide a novel set of regulatory variants and highlight the contribution of repeats to the genetic architecture of quantitative human traits.

Download data

  • Downloaded 1,846 times
  • Download rankings, all-time:
    • Site-wide: 4,188 out of 89,651
    • In genomics: 722 out of 5,704
  • Year to date:
    • Site-wide: 85,420 out of 89,651
  • Since beginning of last month:
    • Site-wide: 66,896 out of 89,651

Altmetric data

Downloads over time

Distribution of downloads per paper, site-wide


Sign up for the Rxivist weekly newsletter! (Click here for more details.)