Found a genetic variation that provides protection against asthma

Researchers at deCode Genetics have found a genetic variation that protects against asthma, but those who are carriers are 73% less likely to develop severe asthma than those who do not have the genetic variation.

This is reported in an announcement from deCode Genetics, but it is noted that it is a rare genetic variation in the STAT6 gene. An article about the study has been published in the Journal of Allergy and Clinical Immunology.

The authors of the article are Kári Stefánsson, Guðmundur Norðdahl, Þórunn Á. Ólafsdóttir and Katla Kristjánsdóttir.

Affects 300 million people worldwide

The announcement states that it is believed that asthma, which is a complex and varied inflammatory disease of the respiratory system, affects about 300 million people worldwide, but it is estimated that about 5-10% of them have severe asthma that does not respond to conventional steroid treatment.

The genetic variation described in this article changes one amino acid in the STAT6 protein. It reduces the protein product of the gene in T immune cells and thus reduces the ability of the cells to respond and activate the T2 inflammatory response. The protection was most effective against severe T2 high asthma, as mentioned above.

The genetic variation was also associated with a decrease in other molecules and cell types that characterize the T2 immune response in the blood, that is, IgE, eosinophils, and basophils. Although the genetic variation is found almost exclusively in Iceland, the announcement states that a similar effect on protection against asthma and a reduction in eosinophils was seen in Icelandic, Danish, and British data when all the rare genetic variations that stop or reduce the activity of the gene were tested together (e. gene burden test).

All biotech anti-severe asthma drugs on the market today work against individual molecules of the T2 inflammatory response. Since STAT6 is a key factor in mediating the T2 inflammatory response, Icelandic genetic analysis believes that it is possible that drugs that reduce the activity of STAT6 can combine the effects of many of these drugs. This study therefore suggests that STAT6 is an interesting molecule for drug development against severe T2 asthma.