The promise of pharmacogenetics will not be realized easily. To date, most studies have focused on individual SNPs (single nucleotide polymorphisms), or perhaps a few, but none have considered the potentially complex interactions between SNPs on the same gene. That one-at-a-time approach could cause researchers to miss important clues, says Stephen B. Liggett, professor of medicine and molecular genetics, University of Cincinnati College of Medicine. Liggett and his team published results in this Hot Paper showing that multiple SNPs on a single gene can cause functional changes.1
Liggett says he was puzzled by studies such as one involving the a2-adrenergic receptor, which resides on the surfaces of the smooth muscle cells of the respiratory airway, where it regulates airway diameter. It is also the target of beta-agonists that are used to treat asthma. But much individual variability exists in treatment response, prompting researchers to investigate whether SNPs in the receptor's ...