Using single nucleotide polymorphisms as a means to understanding the pathophysiology of asthma

Abstract

Asthma is the most common chronic childhood disease in the developed nations, and is a complex disease that has high social and economic costs. Studies of the genetic etiology of asthma offer a way of improving our understanding of its pathogenesis, with the goal of improving preventive strategies, diagnostic tools, and therapies. Considerable effort and expense have been expended in attempts to detect specific polymorphisms in genetic loci contributing to asthma susceptibility. Concomitantly, the technology for detecting single nucleotide polymorphisms (SNPs) has undergone rapid development, extensive catalogues of SNPs across the genome have been constructed, and SNPs have been increasingly used as a method of investigating the genetic etiology of complex human diseases. This paper reviews both current and potential future contributions of SNPs to our understanding of asthma pathophysiology.

Pharmacogenomics of pediatric asthma

“…Single nucleotide polymorphisms (SNPs) are most commonly used to explore the pharmacogenetics of asthma. [ 12 ] Other types of DNA variation include deletions or insertions of one or more bases, variable number of tandem repeats (microsatellites) and varying combinations of SNPs and/or variable numbers of tandem repeats on a single chromosome (haplotypes).…”