The DOI matches its Crossref record; 130 of the 130 references it cites were found in a registry or an index.
Interpreting type 1 diabetes risk with genetics and single-cell epigenomics
Open accessAbstract
Genetic risk variants that have been identified in genome-wide association studies of complex diseases are primarily non-coding1. Translating these risk variants into mechanistic insights requires detailed maps of gene regulation in disease-relevant cell types2. Here we combined two approaches: a genome-wide association study of type 1 diabetes (T1D) using 520,580 samples, and the identification of candidate cis-regulatory elements (cCREs) in pancreas and peripheral blood mononuclear cells using single-nucleus assay for transposase-accessible chromatin with sequencing (snATAC–seq) of 131,554 nuclei. Risk variants for T1D were enriched in cCREs that were active in T cells and other cell types, including acinar and ductal cells of the exocrine pancreas. Risk variants at multiple T1D signals overlapped with exocrine-specific cCREs that were linked to genes with exocrine-specific expression. At the CFTR locus, the T1D risk variant rs7795896 mapped to a ductal-specific cCRE that regulated CFTR; the risk allele reduced transcription factor binding, enhancer activity and CFTR expression in ductal cells. These findings support a role for the exocrine pancreas in the pathogenesis of T1D and highlight the power of large-scale genome-wide association studies and single-cell epigenomics for understanding the cellular origins of complex disease. A genome-wide association study combined with single-cell epigenomics identifies risk loci for type 1 diabetes.
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Metadata
- Authors
- Chiou, J., Geusz, R. J., Okino, M.-L., Han, J. Y., Miller, M., Melton, R., Beebe, E., Benaglio, P., Huang, S., Korgaonkar, K., Heller, S., Kleger, A., Preissl, S., Gorkin, D. U., Sander, M., & Gaulton, K. J.
- Venue
- Nature
- Published
- 2021-05-19
- Volume
- 594
- Issue
- 7863
- Pages
- 398-402
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W3163935900
- Cited by
- 458
- References
- 130
- FWCI
- 36.76
- Type
- journal article
- Language
- en
- Open access
- green
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- Chiou, J., Geusz, R. J., Okino, M.-L., Han, J. Y., Miller, M., Melton, R., Beebe, E., Benaglio, P., Huang, S., Korgaonkar, K., Heller, S., Kleger, A., Preissl, S., Gorkin, D. U., Sander, M., & Gaulton, K. J. (2021). Interpreting type 1 diabetes risk with genetics and single-cell epigenomics. Nature. https://doi.org/10.1038/s41586-021-03552-w
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