Identifying novel genes contributing to asthma pathogenesis

Abstract

Purpose of review: To illustrate recent examples of novel asthma genes such as those encoding G-protein-coupled receptor for asthma susceptibility, filaggrin and tenascin-C, and to describe the process that is needed to translate these findings to the clinic.

Recent findings: Many hundreds of studies have been published investigating the association of genetic polymorphisms in candidate genes with asthma. These genes were selected on the basis of the gene's product known involvement in the disease process. Moreover, it is the identification of novel genes through hypothesis-independent approaches such as genome-wide linkage studies that is likely to radically alter our understanding of asthma pathophysiology. The identification of a gene is, however, only the first step in a long process that may eventually lead from gene to treatment. This process includes replication, functional studies and, finally, intervention studies.

Summary: While significant progress has been made in the identification of asthma susceptibility genes, it is clear that issues such as replication and functional characterization mean that considerably more research is required. This may enable us to realize benefits to patient treatment that studies of the genetic basis of asthma have the potential to deliver.