A joint research team of RIKEN Center for Integrative Medical Sciences and the University of Tokyo Hospital has created a genetic catalog related to individual differences in immune function and developed a new analysis method for the genetic mechanism of immune diseases.Research on multiple immune cells is said to be the first attempt in Asia.
Part of human health and immune function depends on individual differences in DNA sequences.In recent years, many DNA polymorphisms (risk polymorphisms) involved in the development of immune diseases have been identified, but it is unclear in which immune cells and which gene expression levels the risk polymorphisms affect. rice field.
This time, the research team collected 105 types of major immune cells from 5 healthy subjects and comprehensively analyzed individual differences in gene expression levels using a next-generation sequencer.From the analysis results, we created a gene catalog (eQTL catalog) related to individual differences in immune function.
Furthermore, by applying this catalog, we have developed a new method to evaluate the overall picture of the genetic mechanism of immune diseases.As an example, it was confirmed that activation of the TNF pathway in CD4-positive T cells plays an important role in the pathophysiology of rheumatoid arthritis.
The eQTL catalog and analysis method obtained in this study can be applied to many immune-related diseases such as pollinosis, asthma, and cancer, in addition to autoimmune diseases.In the future, it is expected to contribute to the search for drug discovery targets based on the genetic mechanism and the development of therapeutic methods.
Paper information:[Nature Genetics] Polygenic burdens on cell-specific pathways underlie the risk of rheumatoid arthritis