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Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color

Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color

Human eye color is highly heritable, but its genetic architecture is not yet fully understood. We report the results of the largest genome-wide association study for eye color to date, involving up to 192,986 European participants from 10 populations. We identify 124 independent associations arising from 61 discrete genomic regions, including 50 previously unidentified. We find evidence for genes involved in melanin pigmentation, but we also find associations with genes involved in iris morphology and structure. Further analyses in 1636 Asian participants from two populations suggest that...

March 1, 2021
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