Gene Variation Increases Asthma

Gene Variant Increases Asthma


Asthma is a common respiratory disease that affects nearly 155 million individuals worldwide. This disease causes chronic inflammation of the airways and restricts breathing, causes coughing and these symptoms can range from moderate to life threatening. Genetics are crucially important in understanding asthma to combat this debilitating disease and continual research is being conducted to find an answer to this genetic puzzle. There are over 100 genes that have been reported to be associated with asthma and 53 genes linked to this disease in one year alone. Research is now being undertaken to distinguish between genes that are directly related to the cause of asthma and those that combine with environmental factors.
One gene CHI3L1 ( chitinase 3-like 1 ) is now being studied closely as a tiny variation of this gene increases susceptibility to asthma by causing increased blood levels of YKL-40, a biomarker for asthma. YKL-40 are enzymes that are part of the bodies immune systems response to biologic polymers that are found in dust mites, insects and cockroaches all of which have been associated to asthma. Recent study on the levels of this enzyme in a genetically isolated community in South Dakota ( chosen as a excellent test pool , as they have similar but not identical genomes ) has shown that elevated YKL-40 levels were hereditary and that differences between individuals were down to genetic differences. It was documented that the people within the test pool who suffered from asthma were more likely to have a consistent variation of the gene CHI3L1. This variation changes one of the DNA base pairs from cytosine to guanine at the location -131CG within the gene.
After this was discovered other clinical studies were undertaken and resulting samples showed that those with cytosine (c) – cytosine (c) or CC configuration at the 131CG location were more likely to suffer from asthma. The lowest risk of asthma is identified with the GG configuration, while the CG configuration showed an intermediate risk.
The subsequent findings have prompted scientists to pursue drug development in an attempt to block the YKL-40 enzyme and thus lower the risk of asthma.
Source: http://www.medicalnewstoday.com/articles/
Lachlan Charles 41784161