Genome-wide association studies (GWAS) have revolutionized the field of complex disease genetics in the last six years. Many disease associations (i.e. genetic variants that increase risk for a specific disease) have been detected using this technique, but the reported variants tend to explain only small fractions of risk. Also, the causal variants that generate the associations unveiled by GWAS have not been identified. And their frequency and degree of sharing across different ethnical populations remains unknown.
Arcadi Navarro, from the Institute of Evolutionary Biology (UPF-CSIC), set out to study the degree of sharing of disease-associated variants across populations, in order to help solving these issues. Together with Urko Marigorta, they did a comprehensive survey of GWAS replicability across 28 diseases. As they report in their paper in PLOS Genetics, most loci and SNPs discovered in Europeans for these conditions had been extensively replicated using peoples of European and East Asian ancestry, while replication with individuals of African ancestry proved to be much less common.
The authors found a strong and significant correlation across Europeans and East Asians, indicating that underlying causal variants are common and shared between the two ancestries and that they tend to map close to the associated marker SNPs.
They also observed that GWAS with larger sample sizes have detected variants with weaker effects but not with lower frequencies. This indicates that most GWAS results are due to common variants.
Marigorta UM, Navarro A. High Trans-ethnic Replicability of GWAS Results Implies Common Causal Variants. PLoS Genet. 2013 Jun;9(6):e1003566