Lupus immunomodulation research based on large cohort and single-cell RNA sequencing technology

To accompany the lupus advocacy, we share here two innovative studies that have brought new insights into systemic lupus erythematosus (SLE) to understand genomic differences in circulating immune cells and cell-type-specific genes Express the relationship between features

How is a disease diagnosed and treated differently in every patient? Systemic lupus erythematosus (SLE) is one such highly heterogeneous autoimmune disease that causes widespread inflammation and tissue damage in affected organs, including joints, skin, brain, lungs, kidneys, and blood vessels (1)

Despite the variety of clinical manifestations of lupus, two recent papers by Perez et al.

Comprehensive census of lupus immune cells

Previous studies have identified a key culprit in lupus pathogenesis as aberrant T-cell biology, "which aggravates inflammation by secreting pro-inflammatory cytokines, helps B cells produce autoantibodies, and maintains disease through the accumulation of autoreactive memory T cells.

Perez et al.

By analyzing the CD8+ T cell compartment of SLE cases, they observed that the proportion of CD8GZMH cells expressing granzymes was significantly increased compared to controls

Perez et al.

When Population Genetics Meets Single-Cell RNA-seq

Having defined cell-type-specific expression signatures in the peripheral immune profiles of lupus patients and healthy subjects, the research team hopes to integrate their results with a deeper biology: the genome

Their approach used genotyping data that generated reads of expressed quantitative trait loci (eQTLs), the loci that explain differences in mRNA expression levels

Among the eight most predominant cell types in SLE samples, Perez et al.

Yazar et al.

These two analyses underscore the potential of combining genomic and transcriptomic technologies to not only inform each other, but to more deeply annotate disease-associated risk loci, mapping not only genetic variants to disease-causing genes, but also to specific cell types and pathways that drive disease

Welcome to download 10x Genomics' latest brochure "Breaking New Frontiers in Immunology Research"

references:

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Sumida T and Hafler D.
Population genetics meets single-cell sequencing.
Science 376: 134–135 (2022).
doi: 10.
1126/science.
abq0426

5.
Yazar S, et al.
Single-cell eQTL mapping identifies cell type-specific genetic control of autoimmune disease.
Science 376: eabf3041 (2022).
doi: 10.
1126/science.
abf3041