Iris pigmentation as a quantitative trait: variation in populations of European, East Asian and South Asian ancestry and association with candidate gene polymorphisms

Edwards, Melissa and Cha, David and Krithika, S. and Johnson, Monique and Cook, Gillian and Parra, Esteban J. (2016) Iris pigmentation as a quantitative trait: variation in populations of European, East Asian and South Asian ancestry and association with candidate gene polymorphisms. Pigment Cell and Melanoma Research, 29 (2). pp. 141-162. ISSN 1755-148X

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Official URL: https://doi.org/10.1111/pcmr.12435

Abstract

In this study, we present a new quantitative method to measure iris colour based on high‐resolution photographs. We applied this method to analyse iris colour variation in a sample of individuals of East Asian, European and South Asian ancestry. We show that measuring iris colour using the coordinates of the CIELAB colour space uncovers a significant amount of variation that is not captured using conventional categorical classifications, such as ‘brown’, ‘blue’ or ‘green’. We tested the association of a selected panel of polymorphisms with iris colour in each population group. Six markers showed significant associations with iris colour in the European sample, three in the South Asian sample and two in the East Asian sample. We also observed that the marker HERC 2 rs12913832, which is the main determinant of ‘blue’ versus ‘brown’ iris colour in European populations, is also significantly associated with central heterochromia in the European sample.

Item Type: Journal Article
Keywords: Iris colour, high‐resolution photographs, central heterochromia, single‐nucleotide polymorphisms, association, ancestry
Faculty: ARCHIVED Faculty of Science & Technology (until September 2018)
Depositing User: Lisa Blanshard
Date Deposited: 30 Jul 2020 13:06
Last Modified: 09 Sep 2021 19:00
URI: https://arro.anglia.ac.uk/id/eprint/705730

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