Pharmacogenetics description

Lachman HM, Papolos DF, Saito T, Yu YM, Szumlanski CL, et al. 1996. Human catechol-O-methyltransferase pharmacogenetics Description of a functional polymorphism and its potential application to neuropsychiatric disorders 47. Pharmacogenetics 6 243-250. 

For the reasons stated above, pharmacogenetic polymorphisms must be defined on phenotypic grounds. Any comprehensive description of a given pharmacogenetic polymorphism should include information about the phenotype that characterizes the polymorphism and the genotype(s) that explain the polymorphism. 

Measurements of enzymes are used in medicine in two major ways Enzymes are measured in serum and other bodily fluids to detect injury to a tissue that makes the enzyme. Enzymes are also measured, often within a tissue, to identify abnormahties or absence of the enzyme, which may cause disease. In the first part of this chapter we discuss enzymes as markers of disease, and then describe conditions associated with abnormalities of enzymes in one readily available cell type, the erythrocyte or red blood cell. Many other abnormahties of enzymes exist, of course, and many are described in chapters of this book including Chapters 40 (Inherited Disease), 43 (Pharmacogenetics) and 55 (Inborn Errors of Amino Acid, Organic Acid, and Fastty Acid Metabolism). For descriptions of enzyme abnormalities associated with lysosomal storage disease, and tests for the related enzymes, readers are referred to the Chapter 40 Appendix that is located on this book s accompanying Evolve site, found at http //evolve.elsevier.com/Tietz/textbook/. 

Pharmacogenetics From Description to Prediction Wendell W. Weber, MD, PhD... 

Pharmacogenetics has reached a point at which many of the complexities of human drug response and disease are understood and some can be predicted. Genomics and computational tools, combined with an extensive record of research in cells of individuals and in model systems that define the field, have fueled the transformation of pharmacogenetics from a descriptive to a predictive science. 

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