There are two new papers out in AJHG about eye color variation and genomics. Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 as a Human Iris Color Gene and A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color. The second paper is an extension of the work of the Australian group which has been elucidating pigmentation relationships around OCA2 for several years now. The first paper is more interesting (to my mind) because it’s the first genome-wide association study to focus on this region. I’ve extracted figure 6a out of the paper, you might recognize the map. I’m not surprised; go to Haplotter and enter in HERC2, it pops out as a region of selection near OCA2 (I first noticed it when checking for OCA2). As for the map, pretty cool huh? As the authors note there’s a pretty good correlation between the frequency of the trait and the SNP of interest. The authors point to the north-south cline, but I am curious about the east-west one. Additionally, look at Bulgaria. I’ve been looking at Slavicization of the Balkans, and this is an interesting data point….
Note: Please be careful about taking the phenotypic clines too literally, I am to understand that there was a little extrapolation going on here and there. And of course, standard caveats on representativeness of the samples from each region and all.