Researchers have found that carriers of the most common genetic variant that causes cystic fibrosis experience some symptoms similar to those of people with cystic fibrosis. These findings were enabled by large-scale genomic data made available just a few years ago. Yu-Chung (Jerry) Lin, BA, MSc, a graduate student at the University of Toronto, presented the research on October 17, 2019 at the American Society of Human Genetics (ASHG) 2019 Annual Meeting in Houston, Texas (October 15-19). The presentation abstract is titled “Defining the Phenotypic Signature of CFTR Mutation Carriers in the UK Biobank.” Cystic fibrosis is a recessive disease caused by variants of the CFTR gene, which means that affected individuals have two such variants. It affects many organs, and symptoms vary from patient to patient. They can include lung function decline, intestinal obstruction, diabetes, and pancreatic dysfunction. The extent of a person’s symptoms can be affected by modifier genes, which do not directly cause cystic fibrosis, but can affect how an individual’s experience of the disease. Researchers have long assumed that carriers, who have one copy of a disease-causing CFTR variant, do not experience any symptoms. However, given the disease’s wide breadth of symptoms, Mr. Lin explained, researchers needed a very large sample size to definitively answer this question. Senior author Lisa Strug, PhD, Associate Director of The Centre for Applied Genomics at The Hospital for Sick Children, explained, “Although many individuals are learning of their CFTR carrier status through family planning or the use of personal genomics companies, researchers have not yet thoroughly investigated whether a phenotype for cystic fibrosis carriers exists.”Login Or Register To Read Full Story