Purpose of review: The number of single nucleotide polymorphisms (SNPs) found to be associated with asthma and related phenotypes outnumbers those with functional impacts. In this review we briefly described some of the approaches used to investigate functionality of SNPs, and summarized recent findings related to the characterization of functional SNPs in asthma.
Recent findings: For disease-associated SNPs residing in the promoter or 3′ untranslated regions, differential protein binding affinity between the major and minor alleles is often the first logical area of investigation. In this review, we described SNPs associated with asthma or related phenotypes in five genes which in the past 12 months have new data implicating potential mechanisms in asthma development.
Summary: Variability in treatment responses poses a great challenge in asthma management. It is established that the genetic makeup of individuals plays a role in asthma development, yet the mechanisms remain unclear. Investigations on the functional impacts of disease-associated SNPs will help us gain insights into potential disease mechanisms, and ultimately lead to effective therapies for those who suffer from asthma.
aMeakins-Christie Laboratories, McGill University Health Centre, Montreal, Quebec, Canada
bDepartment of Sciences Fondamentales, Université du Québec à Chicoutimi, Chicoutimi, Quebec, Canada
dDivision of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA
Correspondence to Audrey Poon, McGill University, Meakins-Christie Laboratories, 3626 Saint Urbain, Montreal, Quebec H2X2P2, CanadaTel: +1 514 398 3864 ext.09539; e-mail: Audrey.firstname.lastname@example.org