Researchers Identify 50 New Eye Color Genes

The largest genome-wide association study for eye color to date, involving up to 192,986 European participants from 10 populations, has identified 124 independent associations arising from 61 genomic regions, including 50 previously unidentified, and demonstrated that several of these genes also have an effect on eye color in Asians.

“Eye color is primarily determined by melanin abundance within the iris pigment epithelium, which is greater in brown than in blue eyes, and both the density and distribution of stromal melanocyte cells,” said co-senior author Dr. Pirro Hysi of King’s College London and colleagues.

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“The prevalence of blue eyes correlates with geographic latitude across Europe and neighboring areas, likely as a result of human migration, sexual, and possibly natural selection. {snip}”

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The authors identified 61 eye color genes, including 50 previously unidentified, and clearly demonstrated that eye color is a genetically highly complex human trait, similar to hair and skin color.

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The further analysis in 1,636 Asian participants of Han Chinese and Indian ancestry suggests that iris pigmentation variation in Asians is genetically similar to Europeans, albeit with smaller effect sizes.

“The findings are exciting because they bring us to a step closer to understanding the genes that cause one of the most striking features of the human faces, which has mystified generations throughout our history,” Dr. Hysi said.

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