Wednesday, 09 March 2022 14:09

Single nucleotide changes in T cells can lead to autoimmune diseases Featured

Small individual variations in genes expressed in a subset of T cells may increase the risk of autoimmune diseases. This is what scientists from the La Jolla Institute of Immunology in San Diego, California, write in the journal Science Immunology.

For their studies, the scientists, led by Professor Pandurangan Vijayanand, M.D., Ph.D., obtained over one million CD4+ T cells from 89 healthy volunteers. They activated the cells and performed single-cell sequencing on them. Then, they analyzed how single nucleotide changes in the human genome affect gene activity in different types of CD4+ T cells. The researchers found that single nucleotide alterations can affect the expression of more than 4,000 genes in activated CD4+ T cells, some of which are associated with autoimmune diseases.

The study also demonstrated a link between biological sex and changes in T-cell function, which could explain the differences in immunity between men and women.

The data is now available in the Database for Immune Cell Expression, an initiative of the La Jolla Institute of Immunology, which is freely available to other researchers.  

Original publication:
Schmiedel BJ, Gonzalez-Colin C, Fajardo V, Rocha J, Madrigal A, Ramírez-Suástegui C, Bhattacharyya S, Simon H, Greenbaum JA, Peters B, Seumois G, Ay F, Chandra V, Vijayanand P. Single-cell eQTL analysis of activated T cell subsets reveals activation and cell type-dependent effects of disease-risk variants. Sci Immunol. 2022 Feb 25;7(68):eabm2508. doi: 10.1126/sciimmunol.abm2508. Epub 2022 Feb 25. PMID: 35213211.


Database for Immune Cell Expression: