The Hidden Gene Behind Immune Diseases

Scientists at the Wellcome Sanger Institute in England are suggesting that the role of genetics in the risk of having an immune disease could be missed during research. These scientists and their collaborators have discovered that the contribution of genetic variations in disease risk lies not only in genes but in the molecular “switches” that control these genes as well.

Genetics Make Some More Prone to Immune System Problems

It was discovered that the differences in immune responses due to genetic variation were only visible at certain stages of their experiment when the immune cells were in particular states. In certain other states, only a shadow or “footprint” of the genetic variation’s contribution could be seen. By looking at the genes and regulatory regions the molecular “switches” that control the expression of those genes, the researchers were able to identify the full impact of genetic differences on the immune response.

Data Helps Targeted Therapy

By understanding the role genetic variants play in helping our immune systems fight diseases, scientists will be able to make greater strides towards targeted therapies.

For example, the scientists found that the impact of genetic variants on how people’s immune cells respond to a pathogen like Salmonella are condition-specific. This means they are only visible at certain stages of infection. So, the effects of genetic differences in immune disorders could be missed in research if scientists aren’t studying both the genes and their control regions of immune cells at all stages of an infection.

Ready or Not…For Disease

Genetic variation impacts how ready immune cells are to take down an infection. Noted in particular, some individuals’ immune cells were ready to tackle the Salmonella infection, whereas other individuals’ macrophages were less prepared and took longer to respond. This level of immune support is due to a phenomenon called enhancer priming–where some of the “switches” were already turned on in the unstimulated cells to facilitate a quicker response. In some cases, the immune cells are too excited, which can lead to an inflammatory response associated with immune disorders, like lupus or rheumatoid arthritis, that are hard to diagnose.

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