Sarcoidosis in the Genomic Era: From Genetic Drivers to Tailored Therapies

This review aims to synthesize existing literature on the genetics of sarcoidosis, including the genetic architectures associated with various clinical phenotypes, as well as current treatment options. It will also examine studies on phenotyping and endophenotyping sarcoidosis, along with offering new perspectives into pharmacogenetics and pharmacogenomics. The latter remains largely unexplored, which could potentially lead to new opportunities and further the goals of precision medicine.

Genetics and genomics have provided new insights into the study of sarcoidosis. According to current literature, there are variations in the genetic structure of sarcoidosis when categorized by phenotypic definitions. A common element among these findings is the HLA-DRB1 gene, which is associated with many autoimmune diseases. Genetic analysis is a valuable tool for identifying patient groups based on their genetic profiles, offering an opportunity to classify patients for targeted treatment approaches. Genetics can provide valuable insights that, when combined with other omics disciplines, can aid in diagnosing and managing sarcoidosis and help discover new disease biomarkers. Genetics improve the detection of sarcoidosis endophenotypes, and the combination of pharmacogenetics and pharmacogenomics will support the use of appropriate treatments and help eliminate unnecessary therapies in patients with specific genetic susceptibility.