Association study

Association study - an overview of variations in the human genome with the aim of finding the genetic links to human diseases such as asthma, high blood pressure, etc. In order to figure out these links, the genomes of the disease-free individuals must be compared to the genomes of the people who have the disease. In both groups, known sites for SNPs are checked in the genomes in order to see if some SNPs appear more often in the diseased group than in the healthy group. If certain SNPs occur mainly in the patient group, it can be assumed that they are linked to the occurrence of disease. The strength of this association is revealed by the result of the association study. Given the SNPs in his genome and the incidence of disease in the population, we can use this association to calculate the risk of the disease occurrence for a random individual whom we assume to originate from the same population. The data of association studies, published in prestigious scientific journals, are used by GenePlanet to calculate the risk of disease on the basis of personal genotyping.