As of April 2008, >60 genome-wide associations studies were published identifying SNPs with convincing associations to complex human traits. While the association of these SNPs to the study phenotype is secure, how these polymorphisms (or variants associated with them) confer their effects is largely unknown. Of these published genome-wide association scans, 41 papers document genome-wide significant findings for 50 different traits (84 variants). Interestingly, outside of identifying nonsynonymous coding SNPs, only six claim to have identified a functional molecular-level consequence that may contribute to the phenotype, all of which are expression changes at the mRNA transcript level [12–18].
