ABSTRACT

The completion of the Human Genome Project marked the beginning of the “genomic era.” The complete DNA sequence of the “average” human is now known along with specific nuances in the genetic code that may influence disease risk, responses to pharmacological agents, and nutrient tolerances and requirements. Single nucleotide polymorphisms (SNPs), changes in a single base pair that exist in more than 1% of the population, are the most prevalent form of genetic variability in the human genome. SNPs occur about every 1000 base pairs representing about three million differences between individuals’ DNA. Of interest to scientists are the small fraction (~240,000-400,000 common variants) that may be responsible for the genetic component of differences in health, behavior, and other human traits.1