ArticleNature communications2019
Functional disease architectures reveal unique biological role of transposable elements.
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 18 citations in OpenAlex.
- When can whole-genome SNP heritability be reliably estimated from summary statistics?bioRxiv : the preprint server for biology · 2026Article
- Derepression of transposable elements in the mouse prefrontal cortex disrupts social behavior.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- SNP-to-gene linking strategies reveal contributions of enhancer-related and candidate master-regulator genes to autoimmune disease.Cell genomics · 2022Article
- The Role of Transposable Elements in Sexual Development.Frontiers in behavioral neuroscience · 2022Review
- Topologically associating domain boundaries that are stable across diverse cell types are evolutionarily constrained and enriched for heritability.American journal of human genetics · 2021Article
- Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease.Nature communications · 2020Article
- Evaluating the informativeness of deep learning annotations for human complex diseases.Nature communications · 2020Article
- Identification of Novel Alzheimer's Disease Loci Using Sex-Specific Family-Based Association Analysis of Whole-Genome Sequence Data.Scientific reports · 2020Article
- Genome-wide analysis of polymerase III-transcribedGenome research · 2019Article
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
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.
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