The Use of SNPs in Pharmacogenomics Studies.

摘要: Pharmacogenomics is the study of how genetic makeup determines response to a therapeutic intervention. It has potential revolutionize practice medicine by individualisation treatment through use novel diagnostic tools. This new science should reduce trial-and-error approach choice and thereby limit exposure patients drugs that are not effective or toxic for them. Single Nucleotide Polymorphisms (SNPs) holds key in defining risk an individual’s susceptibility various illnesses drugs. There ongoing process identifying common, biologically relevant SNPs, particular those associated with disease. The identification characterization large numbers these SNPs necessary before we can begin them extensively as As SNP allele frequencies vary considerably across human ethnic groups populations, consortium opted ethnically diverse panel maximize chances discovery. Currently most studies biased deliberately towards coding regions data generated from therefore unlikely reflect overall distribution throughout genome. protocol was designed identify without any bias regions. Most pharmacogenomic were carried out heterogeneous clinical trial using case-control cohort association designs employing either candidate gene Linkage disequilibrium (LD) mapping approaches. Concerns about required patient sample sizes, extent LD, number needed map, cost genotyping interpretation results some challenges surround this field. While LD appealing it unbiased allows comprehensive genome-wide survey, limitations significant. An alternative such does offer several advantages over mapping. Ultimately, all genes discovered, need random markers diminishes gene-based approaches will predominate. then be demonstrate convincing links between variation drug responses translate information into useful tests.