Rapid inexpensive genome-wide association using pooled whole blood.
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.
Department of Ophthalmology, Flinders University, Adelaide SA 5042, Australia. jamie.craig@flinders.edu.au
Jamie E
JE
Craig
Alex W
AW
Hewitt
Amy E
AE
McMellon
Anjali K
AK
Henders
Lingjun
L
Ma
Leanne
L
Wallace
Shiwani
S
Sharma
Kathryn P
KP
Burdon
Peter M
PM
Visscher
Grant W
GW
Montgomery
Stuart
S
MacGregor
D001800:Blood Specimen Collection / Q000379:methods; D017889:Exfoliation Syndrome / Q000097:blood / Q000235:genetics; D005127:Eye Color / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D015894:Genome, Human / Q000235:genetics*; D055106:Genome-Wide Association Study / Q000191:economics / Q000379:methods*; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000097:blood / Q000235:genetics; D026901:Membrane Transport Proteins; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics
D026901:Membrane Transport Proteins; C489600:OCA2 protein, human