UNC scientists help find genomic regions key to cystic fibrosis

University of North Carolina at Chapel Hill, School of Medicine

New cystic fibrosis research has found regions of the human genome that have a role in the disease and has provided a path to find new diagnostic and therapeutic approaches to this disease and other lung conditions.

The research, which includes the work of scientists from the School of Medicine at the University of North Carolina at Chapel Hill, was the product of the North America CF Gene Modifier Consortium. The consortium brought together dozens of investigators throughout North America to identify regions of the genome associated with lung disease severity in nearly 3,500 CF patients. Their research has been published in the journal Nature Genetics.

CF is a genetic disease. Each CF patient carries mutations in the coding for a protein called cystic fibrosis transmembrane conductance regulator, or CFTR. The disease causes the lungs to fill with thick, sticky mucus that is prone to infection. The severity of symptoms can vary widely from patient to patient.


Dr. Susan Shurin, acting director of the National Heart, Lung and Blood Institute, said in a statement that the research brings scientists closer to understanding why patients with the exact same genetic mutation in the cystic fibrosis gene have such widely varying manifestations of lung disease.

Dr. Michael Knowles, professor of pulmonary and critical care medicine at UNC, said in a statement that the CF gene discoveries could lead to therapies for other diseases as well. As an example, he cited a previous study by the consortium that found a gene associated with diabetes in CF patients. Genetic variation in that gene is the strongest common genetic variant associated with the risk for type 2 diabetes in the general population, he said.

The consortium’s findings pointed to two regions of the genome, chromosome 11 and chromosome 20. Members of the consortium have divided up these chromosomal spots to study how variants in these regions could lead to CF progression. Knowles will focus on chromosome 11, which contains genes relevant to airway cell function.

The UNC research was funded by the National Heart, Lung and Blood Institute, a component of the National Institutes of Health, and the Cystic Fibrosis Foundation.

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