Gene variant increases risk of asthma

A gene identified as CHI3L1 raises susceptibility to asthma, bronchial sensitivity and deteriorating lung function, acccording to researchers at the University of Chicago (reported in the New England Journal of Medicine). A gene variant for this gene causes elevated blood levels of a protein YKL-40, which is a marker for asthma. Another version of the gene lowers YKL-40 levels and protects patients against asthma.

The original discovery came from the study of a genetically isolated population,(Hutterites of South Dakota). Researchers have confirmed that the same connections exist between the CHI3L1 variations, YKL-40 levels and asthma reactivity in three genetically diverse Caucasian populations from different countries.This gene, “may have important implications in the early identification of, susceptibility to, and prevention and treatment of asthma,” said Elizabeth G. Nabel, MD, director, the National Heart, Lung, and Blood Institute.

“This is exciting because it connects asthma susceptibility to a whole new pathway at the protein and the genetic levels,” reports Carole Ober, professor at the University of Chicago Medical Center.

Geoffrey Chupp fromYale University demonstrated a link between asthmand high levels of the protein YKL-40. The more severe asthma the higher the levels of YKL-40.

The reason that researchers believe that YKL-40 is associated with asthma is that it is a protein that breaks down a protein called chitin–a component of the hard shell of most insects and arthropods such as dust mites and it is present in other things such as fungi and parasitic worms.These insects and fungi trigger inflammation, which is a essential component of asthma.

That variation changes one DNA base pair, out of the 3 billion in the human genome, at a location in the CHI3L1gene known as -131C/G. Those with asthma were more likely to have a cytosine (C), rather than guanine (G) at this location.

To get an idea of the significance of being able to find this gene , this variation represents one DNA base pair, out of the 3 billion in the human genome, located at the CHI3L1gene. Those with asthma were more likely to have a cytosine (C), rather than guanine (G) at this location.

source: http://healthblaster.com/?p=44

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