Figure: www.luft-zum-leben.de
As part of an international cooperative effort, scientists of the National Genome Research Network (NGFN) have identified genetic variants that greatly increase the risk for asthma diseases during childhood.
Together with European and American colleagues, the research team of Dr. Michael Kabesch of the Ludwig Maximilian University in Munich studied the DNA of more than 2,000 children.
They analyzed miniscule changes in the DNA sequence, so-called SNPs. In these genetic mutations, only one base letter is changed on a specific locus of the DNA. The researchers have characterized over 317,000 of such variants.
“Multiple gene mutations on one segment of chromosome 17 increase the asthma risk by 50 percent,” explained Michael Kabesch.
Further studies showed that the gene mutations on chromosome 17 influence the formation of the ORMDL3 protein, which was previously unknown. The blood cells of children with asthma contain more ORMDL3 than the cells of healthy children. However, exactly how this protein functions is still unclear.
“The disease gene that we found has never been associated with asthma until now. The effects are amazing. In various independent studies we were able to show that it is indeed an important asthma gene,” Michael Kabesch said. “Right now we are trying to find out just how ORMDL3 influences the development of asthma. That could be an important step in achieving a better understanding of asthma and a more effective, sustainable therapy.”
Asthma is one of the most common chronic diseases in children. Today about ten percent of all children in Germany suffer from this inflammatory disease of the respiratory tract. Both environmental influences and genetic factors are involved in the development of asthma.
To identify the genetic causes of this disease, the Federal Ministry of Education and Research (BMBF) has been funding asthma research conducted in the National Genome Research Network since 2001.
Website of scientists involved in this NGFN project
