The GIWU–CF study: exploring genetic modifiers in cystic fibrosis

Abstract

Aim. Genome–wide association studies (GWAS) effectively identify links between genetic variants and diseases. Cystic fibrosis (CF) results from the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene mutations; however, disease severity varies among patients with the same mutations because of other genetic factors. We launched the GIWU–CF study (Genetic Investigation into Western Ukrainian CF) to explore CF's genetic foundation. Conclusions. This research seeks to advance our understanding of CF genetics by integrating individual genetic profiles, thereby contributing to a more nuanced approach to managing and understanding the disease and its complications.