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Case-Control Genetic Association Studies

Genetic association analysis has been performed in a case-control setting for identification of the genetic determinants of a certain phenotype. Significant differences in allele or genotype frequencies between cases (affected individuals) and controls (unaffected subjects) are taken as evidence for its involvement in the phenotypic trait under study.

These studies have been largely used for achieving insight into disease pathogenesis as a means of understanding the genetic basis of human diseases to improve preventive strategies, diagnostic tools and therapies. In addition, they have been increasingly applied for identifying genetic markers to select animals or plants based on marker assisted selection (MAS), whereby a trait of interest (e.g. productivity, disease resistance, abiotic stress tolerance) is selected based on genetic markers linked to it. 

Using our TaqMan OpenArray Genotyping System, an association study was carried out by allelic discrimination of 741 SNPs within 51 candidate genes in 266 DNA samples from two groups of subjects with opposite phenotypic traits.

Concerning the DNA samples, 98.1% were successfully genotyped with an average call rate of 98%. In relation to the genotyping assays, 96.6% showed high genotyping quality being then analyzed for genotypic and allelic risk association tests. Significant differences in genotypic frequencies between cases and controls were observed for several SNPs, in two of the analyzed genes, providing strong evidence for their association with the phenotypic trait on study. 

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