Eiberg and colleagues suggested in a study published in Human Genetics that a mutation in the 86th intron of the HERC2 gene, which is hypothesized to interact with the OCA2 gene promoter, reduced expression of OCA2 with subsequent reduction in melanin production.
Eiberg i kolege pokazali su u istraživanju objavljeno u Human Genetics da mutacije u 86. intronu HERC2 gena, što je pretpostavljeno da ima interakciju s OCA2 gen promotorom, smanjena je ekspresija OCA2 sa naknadnim smanjenjem proizvodnje melanina.