Genotyping of single nucleotide polymorphisms for epidemiological studies: A review of current methods

The abundance of well characterized single nucleotide polymorphism (SNP) markers and a complete draft of the DNA sequence of the human genome have opened up a new era for systematic characterization of the estimated 30,000 human genes, and have enabled analysis of gene functions and their associations with diseases of genetic origin. Together with recent innovations in genetic analysis, these factors greatly enhance the potential for epidemiological studies to identify polymorphic genes that predict susceptibility to cancer, cardiovascular disease, mental illness, autoimmune disease, diabetes, and various environmentally influenced diseases. In this review, we discuss currently available technologies and platforms for SNP genotyping that are useful for population-based epidemiology studies, as well as the genotyping principles underlying each method and solutions to commonly encountered analytical problems in this rapidly evolving field.