Single Nucleotide Polymorphisms and Association Studies: A Few Critical Points

Single nucleotide polymorphism (SNP, pronounced snip) represents a DNA sequence variant of a single base pair with the minor allele occurring in more than 1% of a given population. The broad field of applications for SNPs induced a pressing need for effective instruments for SNP detection. During the last decade a considerable number of methods for SNP discovery (search for new SNPs) and detection (recognition of already known SNPs) were developed. Studying the association between quantitative phenotype and SNPs has been a major challenge in genetics. To understand underlying mechanisms of complex phenotypes, it is often necessary to consider joint genetic effects across multiple SNPs. In this article, SNPs and their role in association studies were reviewed.