Conventional wisdom says that having just one mutated copy of the cystic fibrosis gene has no effects on a person’s health — the disease occurs when both copies of the gene are mutated. But a new study from the University of Iowa suggests that may not be the case.
The research, published recently in the journal PNAS, found that people with one mutated copy of the cystic fibrosis (CF) gene, sometimes called CF carriers, are at increased risk for all of the conditions that affect people with CF.
Importantly, although the relative risk is higher, the study shows that the absolute risk – the likelihood of a CF carrier getting many of these conditions – is still very low. However, because more than 10 million Americans are CF carriers, the new findings suggest that the amount of illness caused by CF-related conditions could be substantial.
“CF carriers are nowhere near as at-risk as patients with CF,” says Dr. Philip Polgreen, University of Iowa professor of internal medicine, professor of epidemiology at the University of Iowa College of Public Health, and senior author on the study. “But compared to people with no CF mutations, they have a slightly higher risk for some diseases.”
Some previous reports have linked being a CF carrier with an increased risk for some CF-related conditions, like pancreatitis, male infertility, and airway infections. The new study shows that CF carriers also have an increased risk for other CF-related conditions, including type 1 diabetes, gastrointestinal cancer, and newborn failure to thrive.
The UI team used data from the IBM Watson/Truven Health Analytics MarketScan Database, a very large database of health information, to analyze the effect of CF carrier status on increased risk for CF-related conditions.Friday Letter Submission, Publish on January 17