Environmental exposures more determinant of respiratory health than inherited genetics

March 6, 2018, Ontario Institute for Cancer Research
Credit: CC0 Public Domain

Researchers have found strong evidence that environmental exposures, including air pollution, affect gene expressions associated with respiratory diseases much more than genetic ancestry. The study, published today in Nature Communications, analyzed more than 1.6 million data points from biological specimens, health questionnaires and environmental datasets, making this study one of the largest ever to examine the relationship between gene expression and environmental stimuli. These findings represent a groundbreaking use of big data to uncover the environmental factors that are behind diseases and inform strategies for prevention, an approach that would apply to a number of diseases, including cancer.

Genetic, health and disease data of participants from Montreal, Quebec City and Saguenay were linked with such as , walkability and access to food to see how these factors impact gene expression. Participants were enrolled in the Quebec arm (CARTaGENE) of the Canadian Partnership for Tomorrow Project (CPTP), which supports research into environmental, lifestyle and genetic factors related to the development and progression of cancer and chronic diseases. More than 300,000 Canadians, 1 per cent of the population, have enrolled in CPTP since its launch in 2008.

The study used deep characterization of gene expression signatures from participants and linked that data with environmental information. "We were surprised to find that we were able to stratify within Quebec, identifying individuals whose descendants were from Montreal versus Saguenay for example," explains Dr. Philip Awadalla, the study's senior author. "This helped us to show how most gene expression is not derived by ancestry, and that environmental exposures associated with living in a particular city or region are more impactful on gene expression associated with disease traits than heritable variation."

One of the main findings of the study was that exposure to higher levels of particulate matter and nitrous dioxide in the Saguenay area affected the expression of genes associated with oxygen pathways and respiratory function. This resulted in higher rates of respiratory ailments such as asthma and chronic (COPD). The study also revealed that there are genetic variants that control how a person's responds when exposed to .

"This study demonstrates Ontario's leadership in research and in particular, the importance of ," said Reza Moridi, Minister of Research, Innovation and Science. "Today, with quantities of data never before available, we are able to make important discoveries that will help us fight and overcome disease."

"Our study shows how one can use the large scope and scale of data in Canada's largest health cohort to better understand how our genes interact with and shape individual health," says Awadalla. "I encourage all those engaged in this type of research, both in Canada and around the world, to take advantage of this resource."

Awadalla is Director and Sr. Principal Investigator, Computational Biology, OICR, the Executive Scientific Director of the Ontario Health Study (Ontario's CPTP cohort), Director of the Genome Canada, Canadian Data Integration Centre and Professor, Department of Molecular Genetics, Faculty of Medicine, University of Toronto

Controlled access to cohort data and biological samples is available to researchers through the CPTP Data Portal and CARTaGENE.

Explore further: Study identifies new loci associated with asthma enriched in epigenetic marks

More information: Marie-Julie Favé et al, Gene-by-environment interactions in urban populations modulate risk phenotypes, Nature Communications (2018). DOI: 10.1038/s41467-018-03202-2

Related Stories

Study identifies new loci associated with asthma enriched in epigenetic marks

December 22, 2017
An international study led by scientists from Inserm and Paris Diderot University (France), the University of Chicago (USA), the National Heart and Lung Institute (UK) and the University of Colorado Anschutz Medical Campus ...

Genetic variants found to play key role in human immune system

August 16, 2017
It is widely recognized that people respond differently to infections. This can partially be explained by genetics, shows a new study published today in Nature Communications by an international collaboration of researchers ...

Men and women are different in terms of genetic predispositions, study shows

September 20, 2012
We are not all the same when it comes to illness. In fact, the risk of developing a disease such as diabetes or heart disease varies from one individual to another. A study led by Emmanouil Dermitzakis, Louis-Jeantet Professor ...

Researchers show genetic variants and environmental exposures have influence on health

November 3, 2016
Scientists at the Wayne State University School of Medicine's Center for Molecular Medicine and Genetics have shown for the first time the extent by which interactions between environmental exposures and genetic variation ...

Asthma gene's effect on respiratory symptoms in infancy depends on breastfeeding status

September 4, 2016
Infants who have a genetic profile linked with asthma risk could be protected against respiratory symptoms if they are breastfeed, according to a new study.

Recommended for you

Psychiatric disorders share an underlying genetic basis

June 21, 2018
Psychiatric disorders such as schizophrenia and bipolar disorder often run in families. In a new international collaboration, researchers explored the genetic connections between these and other disorders of the brain at ...

Deep data dive helps predict cerebral palsy

June 21, 2018
When University of Delaware molecular biologist Adam Marsh was studying the DNA of worms living in Antarctica's frigid seas to understand how the organisms managed to survive—and thrive—in the extremely harsh polar environment, ...

Genetic variation in progesterone receptor tied to prematurity risk, study finds

June 21, 2018
Humans have unexpectedly high genetic variation in the receptor for a key pregnancy-maintaining hormone, according to research led by scientists at the Stanford University School of Medicine. The finding may help explain ...

Shared genetics may shape treatment options for certain brain disorders

June 20, 2018
Symptoms of schizophrenia and bipolar disorder, including psychosis, depression and manic behavior, have both shared and distinguishing genetic factors, an international consortium led by researchers from Vanderbilt University ...

Scientists unravel DNA code behind rare neurologic disease

June 20, 2018
Scientists conducting one of the largest full DNA analyses of a rare disease have identified a gene mutation associated with a perplexing brain condition that blinds and paralyzes patients.

Simple sugar delays neurodegeneration caused by enzyme deficiency

June 20, 2018
A new therapeutic approach may one day delay neurodegeneration typical of a disease called mucopolysaccharidoses IIIB (MPS IIIB). Neurodegeneration in this condition results from the abnormal accumulation of essential cellular ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.