Association testing by DNA pooling: an effective initial screen

Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16871-4. doi: 10.1073/pnas.262671399. Epub 2002 Dec 10.

Abstract

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

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Alleles
  • Carrier Proteins / genetics*
  • Cholesterol Ester Transfer Proteins
  • Cholesterol, HDL / blood*
  • Female
  • Gene Pool*
  • Glycoproteins*
  • Haplotypes
  • Humans
  • Middle Aged
  • Polymorphism, Single Nucleotide*

Substances

  • CETP protein, human
  • Carrier Proteins
  • Cholesterol Ester Transfer Proteins
  • Cholesterol, HDL
  • Glycoproteins