Genome-wide association study in almost 195,000 individuals identifies more than 50 novel genetic loci for eye colour

Mark Simcoe, Ana M Valdes, Fan Liu, Nicholas A. Furlotte, David Evans, Gibran Hemani, Susan M Ring, George Davey Smith, David L. Duffy, Gu Zhu, Scott Gordon, Sarah Medland, Dragana Vuckovic, Giorgia Girotto, Cinzia Sala, Eulalia Catamo, Pirro G. Hysi*, et al.

*Corresponding author for this work

Research output: Contribution to journalArticle (Academic Journal)peer-review


Human eye colour is highly heritable, but its genetic architecture is not yet fully understood. Here we report the results of the largest genome-wide association study for eye colour to date, involving up to 192,986 European participants from 10 populations. We identify 124 independent association signals arising from 61 discrete genomic regions, of which 51 are novel. We continue to find evidence for genes involved in melanin pigmentation, but we also find novel associations with genes involved in iris morphology and structure. Further analyses in 1,636 Asian participants from two populations suggests that the iris pigmentation variation in Asians is genetically similar to Europeans, albeit with smaller effect sizes. Our findings collectively explain 53.2% (95% CI= 45.4%, 61.0%) of eye colour variation using common SNPs. Overall, our study outcomes demonstrate that the genetic complexity of human eye colour considerably exceeds previous knowledge and expectations, highlighting eye colour as a genetically highly complex human trait.
Original languageEnglish
JournalScience Advances
Publication statusAccepted/In press - 9 Oct 2020

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