Study identifies New Loci Associated With Asthma Enriched in Epigenetic Marks


Source: CU Anschutz Medical Campus

Summary: Researchers have discovered five new regions of the genome that increase the risk of asthma enriched in epigenetic marks characterizing gene enhancers.


Asthma is a chronic inflammatory disease involving the airway in the lungs that affects more than 300 million people worldwide including 10 to 20 % of children. Symptoms include episodes of wheezing, coughing, chest tightness, and shortness of breath. It has a significant socio-economic impact and characterized by clinical heterogeneity. Asthma results from genetic predisposition and exposure to environmental factors.

An international study led by researchers 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 (USA) together with researchers of the Trans-National Asthma Genetics Consortium (TAGC) have discovered five new regions of the genome that increase the risk of asthma enriched in epigenetic marks characterizing gene enhancers. The study findings were published in the journal Nature Genetics.

A chronic Inflammatory disease

Credit: CC0 Public Domain

The TAGC study allowed pooling data on millions of DNA polymorphisms (genetic variants) throughout the genome in more than 142,000 asthmatic and non-asthmatic subjects of European, African, Latino and Japanese ancestry. Genome-wide association meta-analyses studies were conducted in these ethnically-diverse populations identified a total of 878 genetic variants belonging to 18 loci associated with asthma risk. Another important element is the shared associations of variants with asthma, autoimmune diseases and diseases with an inflammatory component such as cardiovascular diseases, cancers, neuro-psychiatric diseases.

In conclusion, these results highlight the importance of large-scale genetic studies to better characterize complex diseases. This study opens new avenues of research in understanding the biological mechanisms underlying asthma in relationship with environmental exposures and helps in the development of new therapies.


More Information: Florence Demenais et al, “Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks, Nature Genetics (2017). DOI: 10.1038/s41588-017-0014-7


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