Functional Genomics and Proteomics in Allergy Research

  • Struan F. A. Grant
  • Hakon Hakonarson
Part of the Allergy Frontiers book series (ALLERGY, volume 6)


Asthma is a complex phenotype caused by a combination of genetic and environmental factors that remain poorly understood. It has proven difficult to isolate genes involved in the pathogenesis of asthma, and the vast majority of candidate asthma and atopy genes have not replicated in independent studies, and as a consequence, even fewer genetic variants that influence clinical response to asthma and allergy medications have been uncovered. The family-based linkage approach is well powered for discovery of relatively rare genetic variants and successfully discovered the ADAM33, DPP10, PHF11 and G protein-coupled receptor of asthma, as susceptibility genes for asthma or atopy. However, the genome-wide association (GWA) approach has been shown to be more robust in identifying common variants that associate with and predispose to complex disorders, including asthma. In a study including 1,000 patients with childhood onset asthma and 1,200 non-asthmatics controls, the investigators identified multiple SNP markers on chromosome 17q21 that were strongly and reproducibly associated with childhood onset asthma. Moreover, these SNPs were strongly associated with transcript levels of ORMDL3, suggesting that genetic variants regulating ORMDL3 expression are determinants of susceptibility to childhood asthma. This and other large-scale genomic efforts aimed at resolving the pathogenic mechanisms of asthma and other complex medical disorders, through GWA studies, have stirred new hope in identifying genes that underlie these complex phenotypes, and suggest that the novel biological pathways identified could be translated to the future benefit of patients through improved diagnostic and therapeutic measures in the forum of personalized medicine. Collectively, these studies support the notion that modern high-throughput SNP genotyping, microarray and proteomic technologies, when applied to large and comprehensively phenotyped patient cohorts may capture the most clinically relevant disease-modifying or drug response variants and genes. This review addresses both recent advances in the genotyping, genomic and proteomic fields and embarks on new findings with compelling evidence that discoveries enabled by these new technology platforms may transform the practice of medicine to more individualized care in the near future.


Drug Response Clinical Immunology European Respiratory Journal Allergy Research Experimental Allergy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer 2010

Authors and Affiliations

  • Struan F. A. Grant
    • 1
  • Hakon Hakonarson
    • 1
  1. 1.Center for Applied Genomics1216E Abramson Research CenterPhiladelphiaUSA

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