Question

How haplotyping technology can apply to the field of pharmacogenetics?

Answer 1

Analyses of variation in human populations have become central to understanding how gene variants predispose to disease and influence treatment response. Here I first describe an emerging framework for linkage disequilbrium-(haplotype) based gene mapping focusing on the analysis of patterns of genetic variation in 56 genes that metabolize or transport prescription medicines. Detailed analyses of 754 single nucleotide polymorphisms (SNPs) genotyped in two population samples (European and Japanese) provide a set of haplotype tagging SNPs that economically represent variation in most of the major enzymes that act on prescription drugs. I use these analyses to address a number of outstanding questions relating to haplotype mapping. Following this, I provide a number of applications of haplotype mapping emphasizing the work that needs to be done to translate genotype-phenotype correlations into clinically useful diagnostics, and clinically useful leads concerning new therapeutic targets.