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Cited by 513

The DOI matches its Crossref record; 73 of the 73 references it cites were found in a registry or an index.

Single-cell RNA-seq reveals cell type–specific molecular and genetic associations to lupus

Open access
Perez, Richard K., Gordon, M. Grace, Subramaniam, Meena, Kim, Min Cheol, Hartoularos, George C., Targ, Sasha, Sun, Yang, Ogorodnikov, Anton, Bueno, Raymund, Lu, Andrew, Thompson, Mike, Rappoport, Nadav, Dahl, Andrew, Lanata, Cristina M., Matloubian, Mehrdad, Maliskova, Lenka, Kwek, Serena S., Li, Tony, Slyper, Michal, Waldman, Julia, Dionne, Danielle, Rozenblatt-Rosen, Orit, Fong, Lawrence, Dall’Era, Maria, Balliu, Brunilda, Regev, Aviv, Yazdany, Jinoos, Criswell, Lindsey A., Zaitlen, Noah, Ye, Chun Jimmie·2022·Science

Abstract

Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease. Knowledge of circulating immune cell types and states associated with SLE remains incomplete. We profiled more than 1.2 million peripheral blood mononuclear cells (162 cases, 99 controls) with multiplexed single-cell RNA sequencing (mux-seq). Cases exhibited elevated expression of type 1 interferon–stimulated genes (ISGs) in monocytes, reduction of naïve CD4 + T cells that correlated with monocyte ISG expression, and expansion of repertoire-restricted cytotoxic GZMH + CD8 + T cells. Cell type–specific expression features predicted case-control status and stratified patients into two molecular subtypes. We integrated dense genotyping data to map cell type–specific cis–expression quantitative trait loci and to link SLE-associated variants to cell type–specific expression. These results demonstrate mux-seq as a systematic approach to characterize cellular composition, identify transcriptional signatures, and annotate genetic variants associated with SLE.

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Metadata

Authors
Perez, R. K., Gordon, M. G., Subramaniam, M., Kim, M. C., Hartoularos, G. C., Targ, S., Sun, Y., Ogorodnikov, A., Bueno, R., Lu, A., Thompson, M., Rappoport, N., Dahl, A., Lanata, C. M., Matloubian, M., Maliskova, L., Kwek, S. S., Li, T., Slyper, M., Waldman, J., Dionne, D., Rozenblatt-Rosen, O., Fong, L., Dall’Era, M., Balliu, B., Regev, A., Yazdany, J., Criswell, L. A., Zaitlen, N., & Ye, C. J.
Venue
Science
Published
2022-04-08
Volume
376
Issue
6589
Pages
eabf1970-eabf1970
ISSN
  • 0036-8075 (ISSN-L)
  • 1095-9203
OpenAlex
W4223992851
Cited by
513
References
73
FWCI
64.47
Type
journal article
Language
en
Open access
green

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CoChat. (2026). Citation check: Single-cell RNA-seq reveals cell type–specific molecular and genetic associations to lupus. https://app.cochat.ai/papers/10.1126/science.abf1970
The paper
Perez, R. K., Gordon, M. G., Subramaniam, M., Kim, M. C., Hartoularos, G. C., Targ, S., Sun, Y., Ogorodnikov, A., Bueno, R., Lu, A., Thompson, M., Rappoport, N., Dahl, A., Lanata, C. M., Matloubian, M., Maliskova, L., Kwek, S. S., Li, T., Slyper, M., . . . Ye, C. J. (2022). Single-cell RNA-seq reveals cell type–specific molecular and genetic associations to lupus. Science. https://doi.org/10.1126/science.abf1970

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.