rs11812960 - KIAA1217

Magnitude 2.0 · 1 study on file

Reported associations

  • An Unexpectedly Complex Architecture for Skin Pigmentation in Africans - Unknown journal (n.d.) · Unknown authors · PubMed 29195075

    ABSTRACT: Summary Approximately 15 genes have been directly associated with skin pigmentation variation in humans, leading to its characterization as a relatively simple trait. However, by assembling a global survey of quantitative skin pigmentation phenotypes, we demonstrate that pigmentation is more complex than previously assumed with genetic architecture varying by latitude. We investigate polygenicity in the KhoeSan, populations indigenous to southern Africa, who have considerably lighter skin than equatorial Africans. We demonstrate that skin pigmentation is highly heritable, but known pigmentation loci explain only a small fraction of the variance. Rather, baseline skin pigmentation is a complex, polygenic trait in the KhoeSan. Despite this, we identify canonical and non-canonical s


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