tellmegen logo

DISEASE STUDIES

Allergic Asthma

Asthma is a complex genetic syndrome that affects some 300 million persons in the world. The response to treatment is also genetically complex and is characterized by a high intra-individual repeatability and high inter-individual variability, where 40% of the patients with asthma might not have a response to therapy. Inhaled glucocorticoids (also called inhaled corticosteroids or ICS) are the most prescribed medicines for controlling asthma. The endogenous glucocorticoid levels are inherited and vary at the beginning of the treatment in addition to the response to the variations of the environment. On the other hand, the studies carried out in families with distinct asthma conditions have shown family segregation as well as inherited conditions in the response to glucocorticoids. Given the inheritability within the therapeutic class of glucocorticoids, as well as the high levels of variability between patients and within the repeatability in response to the inhaled glucocorticoids for asthma treatment, it is possible that the response have a genetic base.

The hypothesis of some of the studies by the genome association is to identify new variants associated with the response to inhaled glucocorticoids for asthma. This hypothesis has been put to the test with the use of an algorithm for “detection based on the subjects’ families” randomly assigned inhaled glucocorticoids in the Childhood Asthma Management Program (CAMP). Through this detection SNPs have been identified that offer a greater potential for association which is also reproducible for the response to inhaled glucocorticoids, a measured as a change in the forced expiratory volume in 1 second (FEV1). After the selection, the association of the SNPs of four additional populations, taken from independent clinical trials with asthma patients was assessed.

GENE OR REGION STUDIED


  • TLR2
  • TBX21
  • 17q21.32