Pharmacogenomics: genetic polymorphisms

Abstract

It has been estimated that the human genome harbors about 30,000 protein-coding genes. Within these proteins we find transporters, metabolizing enzymes, and therapeutic drug targets. The analysis of human genomic sequences shows a high interindividual similarity (over 99.5%), but they also reveal that small variations (less than 0.1%) cause large phenotypic differences that explain, to a large extent, that each human is a be unique and unrepeatable [1]. These variations, present in less than 0.1% of the human genome sequence, are known as genetic polymorphisms. Most genetic polymorphisms have no effect on health or development. However, some have proven to be very important in the study of human health, helping to predict an individual’s response to certain medications (at the pharmacokinetic and/or pharmacodynamic level), the susceptibility to environmental factors such as microorganisms, parasites, food, and toxins, as well as the risk of developing chronic noncommunicable diseases (e.g., diabetes, cancer, and Alzheimer’s) [1–4].