Strategies to identify clinically relevant interaction partners of cystic fibrosis modifying genes: analysis of SCNN1B

The course of the monogenic disease cystic fibrosis is influenced by non-genetic factors and by CF modifier genes. During the last years, several CF modifying genes were identified and the clinically relevant variants were mapped by the base in the patient population of the European CF Twin and Sibling study. The identified genetic variants largely are located within the non-coding sequence of the human genome, thus implying that they do not change the amino acid sequence of the corresponding modifier gene but instead reflect an essential regulatory mechanism. During the last years, we have used complementary te…