Pharmacogenetics functional studies

Anney, R.J.L., Olsson, C.A., Lotfi-Miri, M., Patton, G.C., Williamson, R. Nicotine dependence in a prospective population-based study of adolescents the protective role of a functional tyrosine hydroxylase polymorphism. Pharmacogenetics. 14 73, 2004. 

There is a diversity of opinion regarding definitions and benefits of pharmacogenetics and pharmacogenomics.1 3 For example, pharmacogenetics is often considered to be the study of inter-individual variations in DNA sequence related to drug absorption and disposition (pharmacokinetics, PK) or drug action (pharmacodynamics, PD). Polymorphic variation in the genes that encode the functions of transporters,... 

The analysis of the predictive role of TS polymorphisms may be more complex if the 6-bp deletion/insertion (del/ins) polymorphism in the 3 UTR is added for consideration. The 6-bp deletion allele may cause mRNA instability and reduce intratumoral TS mRNA levels (32). The improved study design on the pharmacogenetic effect of TS polymorphisms should include a global evaluation of the combined VNTR, G/C, and 6-bp del/ins polymorphisms (33). The same global analysis applies to other genes, especially when the functional polymorphism is unclear. Haplotypes may be more informative than individual genotypes. Haplotype tag SNPs (htSNPs) based on the international HapMap project may represent the next wave of pharmacogenomic studies. 

---