A recent study also demonstrated the role played by macrophages in the development of the disease due to known genetic factors, such as the case of the susceptibility gene GSDMA, which has been involved in cell death in the skin and was associated to the disease in 4,436 SSc patients, but whose function in macrophages from SSc patients was unclear.
‘Macrophages, a type of white blood cells is associated with the development of systemic sclerosis due to known genetic factors.’
Previous genetic studies have found various genes associated with SSc susceptibility, but so far, it is not known for certain which type of cells are crucial for the development of the disease.
The team used advanced transcriptomic and genetic analyses, which included RNA-sequencing and systems-genetics in macrophages of 57 SSc patients, and established decisively the role for hundreds of macrophage genes in the development of SSc. Their discovery will point the way for researchers looking to develop new therapies for SSc.
"In the long quest for finding therapies for systemic sclerosis, our findings have implications for understanding the genetic basis of the disease, and we believe our discovery will prompt detailed functional studies in macrophages and immune cells, hopefully providing a starting point to develop greatly needed treatments for this disease" explained Professor Petretto, co-lead principal investigator, and coordinator of the study.
The study further discovered hundreds of genes that were previously not known to be associated with SSc. This provides a new starting point to better understand the disease etiology, its genetic causes and develop therapies for SSc.
"Investigating how genetic variation is responsible for systemic sclerosis is a colossal task. By looking at immune cells such as macrophages, we can generate specific hypotheses that will allow us to understand how these cells cause damage," added Dr Jacques Behmoaras, co-lead principal investigator from Centre for Complement and Inflammation Research, Imperial College London.