04:13pm Tuesday 22 October 2019

Cystic fibrosis now seen as a disease affecting many ethnicities

Cystic fibrosis (CF) has long been thought of by most people as a disease affecting only Caucasians. While some experts asserted this was not the case, they did not have the data to correct this misconception. Now they do.

A new North American study led by researchers at The Hospital for Sick Children (SickKids) reveals previously unrecognized ethnic diversity among CF patients across Canada and the United States. The study is published in the July 29 advance online edition of Clinical Genetics.

Cystic fibrosis is a fatal genetic disease affecting multiple organs, such as the lungs and digestive system.  One in every 3,600 children born in Canada has cystic fibrosis

“In genetic association studies, when the population is presumed to be made up of people of the same ethnicity, there is little need to adjust for population structure. If it turns out that the population is actually made up of different ethnicities, this could generate biased results,” says the study’s lead author, Weili Li, Biostatistician at SickKids.

This was the first study to use genetic data to examine the ethnic makeup of the North American cystic fibrosis population. The North American CF Modifier Gene Consortium analyzed results from three separate research groups: the Canadian Cystic Fibrosis Genetic Modifier Study (a population-based study representing 70 per cent of the Canadian cystic fibrosis population); the University of North Carolina/Case Western Reserve University Extremes of Lung Phenotype Study; and the US Twin and Sibling Study (a family-based study).

The researchers analyzed the genomes of greater than 3,000 unrelated North American patients to see how much their genomes varied from person to person. The researchers found that while the North American cystic fibrosis population remains predominantly Caucasian in origin, similar and clearly-defined population subcultures were identified across all three research groups. Many patients were recognized as having mixed-ethnic backgrounds, most commonly African-Caucasian, Mexican-Caucasian and Indian-Caucasian.

“This study shows how ethnically diverse the North American cystic fibrosis population really is,” says Dr. Lisa Strug, principal investigator of the study, Scientist in the Child Health Evaluative Sciences Program at SickKids and Assistant Professor at the Dalla Lana School of Public Health at the University of Toronto. “This diversity reflects the ethnic makeup of the general North American population.”

The authors say the implications for this study could be far-reaching when it comes to future research into cystic fibrosis, as well as other conditions that are presumed to affect only one ethnic group, such as sickle cell disease.

“Future genetic association studies in cystic fibrosis patients will need to adjust for ethnic background,” says Strug. “Analyses of population structure in other disease populations may also be beneficial.”

The study was supported by Genome Canada through the Ontario Genomics Institute, the Canadian Cystic Fibrosis Foundation, the Ontario Research Foundation, the Natural Sciences and Engineering Research Council of Canada, National Institutes of Health (National Heart and Blood Institute), Cystic Fibrosis Foundation, Flight Attendant Medical Research Institute and SickKids Foundation.

The Hospital for Sick Children (SickKids) is recognized as one of the world’s foremost paediatric health-care institutions and is Canada’s leading centre dedicated to advancing children’s health through the integration of patient care, research and education. Founded in 1875 and affiliated with the University of Toronto, SickKids is one of Canada’s most research-intensive hospitals and has generated discoveries that have helped children globally.  Its mission is to provide the best in complex and specialized family-centred care; pioneer scientific and clinical advancements; share expertise; foster an academic environment that nurtures health-care professionals; and champion an accessible, comprehensive and sustainable child health system.  SickKids is proud of its vision of Healthier Children. A Better World.™ 

For more information, please contact:

Matet Nebres
Manager, Media Relations
Communications and Public Affairs
The Hospital for Sick Children
Tel: 416-813-6380
Fax: 416-813-5328
e-mail: matet.nebres@sickkids.ca

Suzanne Gold
Communications Specialist – Media Relations
Communications and Public Affairs
The Hospital for Sick Children
Tel: 416-813-7654 ext. 2059
Fax: 416-813-5328
e-mail: suzanne.gold@sickkids.ca

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