Rapid inexpensive genome-wide association using pooled whole blood (original) (raw)

  1. Jamie E. Craig1,4,5,
  2. Alex W. Hewitt1,2,4,5,
  3. Amy E. McMellon1,
  4. Anjali K. Henders3,
  5. Lingjun Ma1,
  6. Leanne Wallace3,
  7. Shiwani Sharma1,
  8. Kathryn P. Burdon1,
  9. Peter M. Visscher3,
  10. Grant W. Montgomery3 and
  11. Stuart MacGregor3,4
  12. 1 Department of Ophthalmology, Flinders University, Adelaide SA 5042, Australia;
  13. 2 Centre for Eye Research Australia, Melbourne University, Melbourne VIC 3002, Australia;
  14. 3 Genetics and Population Health, Queensland Institute for Medical Research, Herston, Brisbane QLD 4029, Australia
  15. ↵4 These authors contributed equally to this work.

Abstract

Genome-wide association studies (GWAS) have now successfully identified important genetic variants associated with many human traits and diseases. The high cost of genotyping arrays in large data sets remains the major barrier to wider utilization of GWAS. We have developed a novel method in which whole blood from cases and controls, respectively, is pooled prior to DNA extraction for genotyping. We demonstrate proof of principle by clearly identifying the associated variants for eye color, age-related macular degeneration, and pseudoexfoliation syndrome in cohorts not previously studied. Blood pooling has the potential to reduce GWAS cost by several orders of magnitude and dramatically shorten gene discovery time. This method has profound implications for translation of modern genetic approaches to a multitude of diseases and traits yet to be analyzed by GWAS, and will enable developing nations to participate in GWAS.

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