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Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression
Eiberg H, Troelsen J, Nielsen M, Mikkelsen A, Mengel-From J, Kjaer KW, Hansen L.
Hum Genet. 2008 Mar;123(2):177-87. Epub 2008 Jan 3.
(та самая неоднократно упоминаемая работа Эйберга)

Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 as a Human Iris Color Gene
Manfred Kayser, Fan Liu, A. Cecile J.W. Janssens, Fernando Rivadeneira, Oscar Lao, Kate van Duijn, Mark Vermeulen, Pascal Arp, Mila M. Jhamai, Wilfred F.J. van IJcken, Johan T. den Dunnen, Simon Heath, Diana Zelenika, Dominiek D.G. Despriet, Caroline C.W. Klaver, Johannes R. Vingerling, Paulus T.V.M. de Jong, Albert Hofman, Yurii S. Aulchenko, Andre G. Uitterlinden, Ben A. Oostra, and Cornelia M. van Duijn
Am J Hum Genet. 2008 February 8; 82(2): 411–423.

A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color
Richard A. Sturm, David L. Duffy, Zhen Zhen Zhao, Fabio P.N. Leite, Mitchell S. Stark, Nicholas K. Hayward, Nicholas G. Martin, and Grant W. Montgomery
Am J Hum Genet. 2008 February 8; 82(2): 424–431.