Nat Genet: Genetic mutations associated with immune cells may affect an individual's risk of developing autoimmune diseases.

21, 2020 // -- In a recent study published in the international journal Nature Genetics, scientists from Italy, the United Kingdom and the United States studied and isolated a group of immune cell-related genetic mutations that may affect the body's risk of developing autoimmune diseases, detailing techniques and tools used to reveal previously unknown mutations in immune cells that are directly related to a variety of human immune-related diseases.
Photo Source: Pixabay/CC0 Public Domain Previous studies have shown that many diseases that were once thought to be organ-specific or place-specific may be related to the body's immune status, while inflammatory diseases, multiple sclerosis and Kawasaki disease are just a few examples, and in response to these findings, scientists have been delving into related immune cells and related mutations that may cause these diseases. In the
study, researchers studied blood samples from 3,500 participants in sardinia, Italy, using genotype spectrometry and attribution analysis as a means of finding mutations involving 731 immune cell properties, including the use of cell surface markers and cell segments based on fluid cytometry.
Overall, the researchers analyzed data on about 22 million mutations in blood samples, some of them from individuals in the same family, and in the process found 122 single nucleotide polymorphisms, 52 of which were new features, and 17 gene points were independently associated with 459 single cell characteristics, which the researchers noted included about 36 mutations associated with known autoimmune disease genes.
The researchers then performed fine-grained mapping, follow-up validation, selective analysis, expression, and quantitative feature location analysis to better understand the correlation between their isolated characteristics, and more importantly, they wanted to see if they could find an unknown association with the occurrence of autoimmune diseases, and the next step would be to use protein quantitative feature points. Technology to investigate the existence of such a link to help identify any associations with drugs already in use and to clarify whether these drugs can also be used to treat other conditions, and in the future, targeted studies of more than one path path or protein may be a major direction for future research in the course of research based on immunocytocyte subtypes and related diseases.
() Original source: Orrù, V., Seri, M., Sidore, C. et al. Complex genetic signatures in immune cells underlie autoimmunity and inform therapy. Nat Genet (2020). doi:10.1038/s41588-020-0684-4.