Purpose of review: To perform analysis of evidence in current literature on the topic of genetics and chronic rhinosinusitis (CRS), with a particular focus on recent findings in the cystic fibrosis transmembrane regulator (CFTR), genes associated with primary ciliary dyskinesia, and taste receptor T2R38. Other genes that have been found to have association with CRS are also presented and discussed.
Recent findings: Recent studies in CFTR and CRS research have investigated possible CFTR-potentiators for treatment of refractory CRS. The T2R38 gene has been shown to be applicable in the clinical setting with a testable phenotype and may have a role in the prognosis and influencing management strategies of CRS patients. Many genes of the immune system have been studied, with genome-wide association studies and candidate-gene approaches identifying new associations that will need replication and further elucidation.
Summary: CRS is a multifactorial disease, with strong evidence of a genetic component in its pathophysiology for some cases. Currently, there are over 70 genes that have been genetically associated with CRS in the past 15 years. Future investigations into genetic causes and predispositions of CRS may allow for improved prognostication and development of disease-prevention strategies as well as novel therapeutic targets.