Functional disease architectures reveal unique biological role of transposable elements.

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ID: 40195
2019
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Abstract
Transposable elements (TE) comprise roughly half of the human genome. Though initially derided as junk DNA, they have been widely hypothesized to contribute to the evolution of gene regulation. However, the contribution of TE to the genetic architecture of diseases remains unknown. Here, we analyze data from 41 independent diseases and complex traits to draw three conclusions. First, TE are uniquely informative for disease heritability. Despite overall depletion for heritability (54% of SNPs, 39 ± 2% of heritability), TE explain substantially more heritability than expected based on their depletion for known functional annotations. This implies that TE acquire function in ways that differ from known functional annotations. Second, older TE contribute more to disease heritability, consistent with acquiring biological function. Third, Short Interspersed Nuclear Elements (SINE) are far more enriched for blood traits than for other traits. Our results can help elucidate the biological roles that TE play in the genetic architecture of diseases.
Reference Key
hormozdiari2019functionalnature Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Hormozdiari, Farhad;van de Geijn, Bryce;Nasser, Joseph;Weissbrod, Omer;Gazal, Steven;Ju, Chelsea J-T;Connor, Luke O';Hujoel, Margaux L A;Engreitz, Jesse;Hormozdiari, Fereydoun;Price, Alkes L;
Journal Nature communications
Year 2019
DOI
10.1038/s41467-019-11957-5
URL
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