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

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posted on 2023-07-26, 15:04 authored by Melissa Edwards, David Cha, S. Krithika, Monique Johnson, Gillian Cook, Esteban J. Parra
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.

History

Refereed

  • Yes

Volume

29

Issue number

2

Page range

141-162

Publication title

Pigment Cell and Melanoma Research

ISSN

1755-148X

Publisher

Wiley

File version

  • Published version

Language

  • eng

Legacy posted date

2020-07-30

Legacy creation date

2020-07-30

Legacy Faculty/School/Department

ARCHIVED Faculty of Science & Technology (until September 2018)

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