Researchers from China identified five genes that might be implicated in the development of pulmonary sarcoidosis through interactions with each other. According to the authors, this finding, which was published in the scientific journal Gene, offers new insights into the initial cause of pulmonary sarcoidosis, and lays the foundation for the development of future targeted therapies for the disease.
In the study “Bioinformatics analysis of gene expression profile data to screen key genes involved in pulmonary sarcoidosis,” the team of researchers led by Hailing Yang, MD, of the China-Japan Union Hospital in China, analyzed gene expression data obtained from six pulmonary sarcoidosis patients and compared these to six lung samples obtained from healthy individuals.
Researchers then identified genes that were expressed differentially between the two types of samples. Using bioinformatics analyses, they also generated protein-protein interaction networks.
In total, the team identified 208 genes that were differentially expressed between lung samples obtained from pulmonary sarcoidosis patients and normal lung samples. A total of 179 of these genes were up-regulated (more active) in patients with sarcoidosis, while 29 genes were down-regulated (less active).
Following the construction of protein-protein interaction networks, the researchers identified five genes called CXCL9, STAT1, CCL5, CXCL11, and GBP1 that likely were interacting with each other and involved in pulmonary sarcoidosis development.
Further analysis showed that three of these genes, CXCL9, CCL5, and CXCL11, likely were involved in immune response, while STAT1 was involved in chemokine and JAK-STAT signaling pathways, which are both important in cell-cell communication.
According to the authors, these predicted results obtained through bioinformatics analysis should be validated by further experimental research to fully understand the involvement of these genes in the development of pulmonary sarcoidosis.
Sarcoidosis is an inflammatory disease that involves many organs and systems, but it mainly manifests as pulmonary sarcoidosis. The exact cause of sarcoidosis is not fully understood, but a genetic involvement is likely as people who have a family member with sarcoidosis are more likely to also develop the disease.
The identification of genetic markers could help doctors diagnose sarcoidosis more effectively, as well as allow them to monitor how patients are responding to a certain treatment.