Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Research Briefing
  • Published:

Linking non-coding variants to function in microglia in Alzheimer’s disease

Nature Genetics volume 55, pages 1615–1616 (2023)Cite this article

Subjects

Genetic studies have associated thousands of non-coding variants with Alzheimer’s disease (AD), yet the functions of these variants remain elusive. We conducted cell-type-specific genetic fine mapping of AD variants and performed extensive functional characterization to unravel the causal variants that contribute to transcriptional regulation and AD­related phenotypes in microglia.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Fig. 1: Proposed model linking AD risk variant rs7922621 to function in microglia.

References

  1. Nott, A. et al. Brain cell type-specific enhancer- promoter interactome maps and disease-risk association. Science 366, 1134–1139 (2019). This paper reports enrichment of AD variants at microglia enhancers.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Douvaras, P. et al. Directed differentiation of human pluripotent stem cells to microglia. Stem Cell Rep. 8, 1516–1524 (2017). This paper reports a method for differentiating hPSCs into microglia.

    Article  CAS  Google Scholar 

  3. Bellenguez, C. et al. New insights into the genetic etiology of Alzheimer’s disease and related dementias. Nat. Genet. 54, 412–436 (2022). This paper presents the most comprehensive study of the AD genetic landscape.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Anzalone, A. V. et al. Search-and-replace genome editing without double-strand breaks or donor DNA. Nature 576, 149–157 (2019). This paper describes prime-editing methods.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Ren, X. et al. High throughput PRIME editing screens identify functional DNA variants in the human genome. bioRxiv 2023.07.12.548736 (2021). This paper presents a high-throughput prime-editing method for characterizing genome function.

Download references

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

This is a summary of: Yang, X. et al. Functional characterization of Alzheimer’s disease genetic variants in microglia. Nat. Genet. https://doi.org/10.1038/s41588-023-01506-8 (2023).

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Linking non-coding variants to function in microglia in Alzheimer’s disease. Nat Genet 55, 1615–1616 (2023). https://doi.org/10.1038/s41588-023-01503-x

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/s41588-023-01503-x

Search

Advanced search

Quick links

Nature Briefing: Translational Research

Sign up for the Nature Briefing: Translational Research newsletter — top stories in biotechnology, drug discovery and pharma.

Get what matters in translational research, free to your inbox weekly. Sign up for Nature Briefing: Translational Research