Recent advances in asthma genetics

Respir Res. 2008 Jan 15;9(1):4. doi: 10.1186/1465-9921-9-4.


There are over 100 genes that have been reported to be associated with asthma or related phenotypes. In 2006-2007 alone there were 53 novel candidate gene associations reported in the literature. Replication of genetic associations and demonstration of a functional mechanism for the associated variants are needed to confirm an asthma susceptibility gene. For most of the candidate genes there is little functional information. In a previous review by Hoffjan et al. published in 2003, functional information was reported for 40 polymorphisms and here we list another 22 genes which have such data. Some important genes such as filaggrin, interleukin-13, interleukin-17 and the cysteinyl leukotriene receptor-1 which not only were replicated by independent association studies but also have functional data are reviewed in this article.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Asthma / genetics*
  • Asthma / physiopathology
  • Filaggrin Proteins
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Interleukin-13 / genetics
  • Interleukin-17 / genetics
  • Intermediate Filament Proteins / genetics
  • Membrane Proteins / genetics
  • Phenotype
  • Polymorphism, Genetic*
  • Receptors, Leukotriene / genetics
  • Risk Factors


  • FLG protein, human
  • Filaggrin Proteins
  • IL17F protein, human
  • Interleukin-13
  • Interleukin-17
  • Intermediate Filament Proteins
  • Membrane Proteins
  • ORMDL3 protein, human
  • Receptors, Leukotriene
  • leukotriene D4 receptor