Thursday, February 5, 2009

Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype

Human pigmentation is a polygenic trait which may be shaped by different kinds of gene–gene interactions. Recent studies have revealed that interactive effects between HERC2 and OCA2 may be responsible for blue eye colour determination in humans. Here researchers performed a population association study, examining important polymorphisms within the HERC2 and OCA2 genes. Furthermore, pooling these results with genotyping data for MC1R, ASIP and SLC45A2 obtained for the same population sample the researchers also analysed potential genetic interactions affecting variation in eye, hair and skin colour. Their results confirmed the association of HERC2 rs12913832 with eye color and showed that this SNP is also significantly associated with skin and hair coloration. It is also concluded that OCA2 rs1800407 is independently associated with eye color. Finally, using various approaches the researchers were able to show that there is an interaction between MC1R and HERC2 in determination of skin and hair color in the studied population sample.


A transracial identity

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