Nav: Home

Cystic fibrosis carriers at increased risk of digestive symptoms

October 17, 2019

HOUSTON, Texas - 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 at the American Society of Human Genetics 2019 Annual Meeting in Houston, Texas.

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 they experience 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."

By utilizing the UK Biobank, Mr. Lin and the team studied 263,000 people of European ancestry - the population among which cystic fibrosis is most common - whose medical records reflected at least one diagnosis from the ICD-10 classification of disease. Of these individuals, 8,700 were carriers of the most common cystic fibrosis variant.

Through a phenome-wide association study, the researchers found specific associations between cystic fibrosis carrier status, modifier genes, and several digestive system phenotypes.

"For example, we found that carriers were twice as likely as non-carriers to experience bile duct obstruction," Mr. Lin said. "While it is important to note that being a carrier doesn't predict symptoms for any given individual, the association study shows that there may be phenotypic risks to having even one copy of the cystic fibrosis variant. It's important to consider the clinical impact of this information carefully."

Mr. Lin and Dr. Strug plan to continue performing association studies using the data from the UK Biobank, to identify other phenotypic associations, including associations to symptoms like cough and lung function that do not have a diagnosis code in the ICD-10. They are also further examining the effects of cystic fibrosis modifier genes, which affect the severity of symptoms in people with the disease, on the symptoms experienced by carriers. They are hopeful that such a breadth of data will provide answers for carriers that were not available before.
-end-
Media Interest: To learn more about Mr. Lin's work or set up an interview, please contact press@ashg.org to coordinate.

Reference: Y Lin et al. (2019 Oct 17). Abstract: Defining the phenotypic signature of CFTR mutation carriers in the UK Biobank. Presented at the American Society of Human Genetics 2019 Annual Meeting. Houston, Texas.

American Society of Human Genetics

Related Cystic Fibrosis Articles:

Cystic fibrosis: why so many respiratory complications?
Cystic fibrosis, one of the most common genetic diseases in Switzerland, causes severe respiratory and digestive disorders.
A newly discovered disease may lead to better treatment of cystic fibrosis
Cystic fibrosis is the most frequent severe inherited disorder worldwide.
New treatment kills off infection that can be deadly to cystic fibrosis patients
The findings, which are published in the journal Scientific Reports, show that scientists from Aston University, Mycobacterial Research Group, combined doses of three antibiotics -- amoxicillin and imipenem-relebactam and found it was 100% effective in killing off the infection which is usually extremely difficult to treat in patients with cystic fibrosis.
Cystic fibrosis carriers are at increased risk for cystic fibrosis-related conditions
A University of Iowa study challenges the conventional wisdom that having just one mutated copy of the cystic fibrosis (CF) gene has no effects on a person's health.
Modifier gene may explain why some with cystic fibrosis are less prone to infection
People with cystic fibrosis who carry genetic variants that lower RNF5 gene expression have more mutant CFTR protein on cell surfaces.
Rare mutations drive cystic fibrosis in Caribbean
Cystic Fibrosis (CF) in the Caribbean is dominated by unusual gene mutations not often observed in previously studied CF populations, according to comprehensive genome sequencing led by physician-scientists at UC San Francisco and Centro de Neumología Pediátrica in San Juan.
Cystic fibrosis carriers at increased risk of digestive symptoms
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.
In cystic fibrosis, lungs feed deadly bacteria
A steady supply of its favorite food helps a deadly bacterium thrive in the lungs of people with cystic fibrosis, according to a new study by Columbia researchers.
Cibio knocks out cystic fibrosis
The fight against cystic fibrosis continues, targeting in particular some of the mutations that cause it.
Hypertonic saline may help babies with cystic fibrosis breathe better
Babies with cystic fibrosis may breathe better by inhaling hypertonic saline, according to a randomized controlled trial conducted in Germany and published in the American Thoracic Society's American Journal of Respiratory and Critical Care Medicine.
More Cystic Fibrosis News and Cystic Fibrosis Current Events

Trending Science News

Current Coronavirus (COVID-19) News

Top Science Podcasts

We have hand picked the top science podcasts of 2020.
Now Playing: TED Radio Hour

Debbie Millman: Designing Our Lives
From prehistoric cave art to today's social media feeds, to design is to be human. This hour, designer Debbie Millman guides us through a world made and remade–and helps us design our own paths.
Now Playing: Science for the People

#574 State of the Heart
This week we focus on heart disease, heart failure, what blood pressure is and why it's bad when it's high. Host Rachelle Saunders talks with physician, clinical researcher, and writer Haider Warraich about his book "State of the Heart: Exploring the History, Science, and Future of Cardiac Disease" and the ails of our hearts.
Now Playing: Radiolab

Insomnia Line
Coronasomnia is a not-so-surprising side-effect of the global pandemic. More and more of us are having trouble falling asleep. We wanted to find a way to get inside that nighttime world, to see why people are awake and what they are thinking about. So what'd Radiolab decide to do?  Open up the phone lines and talk to you. We created an insomnia hotline and on this week's experimental episode, we stayed up all night, taking hundreds of calls, spilling secrets, and at long last, watching the sunrise peek through.   This episode was produced by Lulu Miller with Rachael Cusick, Tracie Hunte, Tobin Low, Sarah Qari, Molly Webster, Pat Walters, Shima Oliaee, and Jonny Moens. Want more Radiolab in your life? Sign up for our newsletter! We share our latest favorites: articles, tv shows, funny Youtube videos, chocolate chip cookie recipes, and more. Support Radiolab by becoming a member today at Radiolab.org/donate.