Premium
Determination of β2‐adrenergic receptor (ADRB2) haplotypes by a multiplexed polymerase chain reaction assay
Author(s) -
Littlejohn Mathew D.,
Taylor D. Robin,
Miller Allison L.,
Kennedy Martin A.
Publication year - 2002
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9091
Subject(s) - haplotype , biology , single nucleotide polymorphism , pharmacogenetics , genotype , genetics , allele , agonist , polymerase chain reaction , adrenergic receptor , gene , receptor
The β2‐adrenergic receptor (B2AR or ADRB2) is the target of β2‐agonist drugs used for bronchodilation in asthma and other respiratory diseases. The gene for this receptor ( ADRB2 ) contains numerous single nucleotide polymorphisms (SNPs) some of which may be of pharmacogenetic relevance, although a consistent picture of genotype‐phenotype relationships has yet to emerge. Recently, 12 distinct haplotypes of ADRB2 were described along with preliminary evidence that certain haplotypes, rather than specific SNPs, determine differential response to the β‐agonist drug albuterol. In order to further evaluate the role of ADRB2 haplotypes as pharmacogenetic determinants, simple and accurate methods for haplotyping clinical samples are required. To this end we have developed a multiplexed, allele‐specific PCR assay that interrogates six ADRB2 SNPs in a manner that permits rapid and accurate assignment of ADRB2 haplotype pairs. This assay will facilitate studies of ADRB2 haplotypes in phenotypes such as patient responses to β2‐agonists, bronchial hyper‐responsiveness, and cardiovascular conditions. © 2002 Wiley‐Liss, Inc.