Functional analysis of regulatory variants that determine the outcome of the monogenic disease cystic fibrosis

The clinical outcome of patients with Cystic Fibrosis is highly variable, even among patients who harbour the same CFTR mutation genotype, indicating that environmental and non-CFTR genetic factors such as modifying genes shape the course of the disease. Two contrasting alleles (C or T) of SNP rs7910656 on intron 2 of the FAS gene have been associated with mild and severe CF outcome. To gain mechanistic insight into how the SNPs of FAS alter the course and the outcome of the disease, we performed in- silico analysis using ENCODE data which showed that rs7910656 is on a nucleosome free region and occupied with RN…