Association testing by DNA pooling: An effective initial screen

摘要: With an ever-increasing resource of validated single-nucleotide polymorphisms (SNPs), the limiting factors in genome-wide association analysis have become genotyping capacity and availability DNA. We provide a proof concept use pooled DNA as means efficiently screening SNPs prioritizing them for further study. This approach reduces final number that undergo full, sample-by-sample well quantity used overall. examined 15 cholesteryl ester transfer protein (CETP) gene, gene previously demonstrated to be associated with serum high-density lipoprotein cholesterol levels. The were amplified two pools derived from groups individuals extremely high low levels, respectively. P values <0.05 obtained 14 SNPs, supporting described association. Genotyping individual samples showed average margin error frequency estimate was ≈4% when used. These findings clearly demonstrate potential pooling techniques their technologies initial screen search genetic associations.