Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/68159
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Type: Journal article
Title: Ethnic and mouse strain differences in central corneal thickness and association with pigmentation phenotype
Author: Dimasi, D.
Hewitt, A.
Kagame, K.
Ruvama, S.
Tindyebwa, L.
Llamas, B.
Kirk, K.
Mitchell, P.
Burden, K.
Craig, J.
Citation: PLoS One, 2011; 6(8):1-10
Publisher: Public Library of Science
Issue Date: 2011
ISSN: 1932-6203
1932-6203
Statement of
Responsibility: 
David P. Dimasi, Alex W. Hewitt, Kenneth Kagame, Sam Ruvama, Ludovica Tindyebwa, Bastien Llamas, Kirsty A. Kirk, Paul Mitchell, Kathryn P. Burdon and Jamie E. Craig
Abstract: The cornea is a transparent structure that permits the refraction of light into the eye. Evidence from a range of studies indicates that central corneal thickness (CCT) is strongly genetically determined. Support for a genetic component comes from data showing significant variation in CCT between different human ethnic groups. Interestingly, these studies also appear to show that skin pigmentation may influence CCT. To validate these observations, we undertook the first analysis of CCT in an oculocutaneous albinism (OCA) and Ugandan cohort, populations with distinct skin pigmentation phenotypes. There was a significant difference in the mean CCT of the OCA, Ugandan and Australian-Caucasian cohorts (Ugandan: 517.3±37 µm; Caucasian: 539.7±32.8 µm, OCA: 563.3±37.2 µm; p<0.001). A meta-analysis of 53 studies investigating the CCT of different ethnic groups was then performed and demonstrated that darker skin pigmentation is associated with a thinner CCT (p<0.001). To further verify these observations, we measured CCT in 13 different inbred mouse strains and found a significant difference between the albino and pigmented strains (p = 0.008). Specific mutations within the melanin synthesis pathway were then investigated in mice for an association with CCT. Significant differences between mutant and wild type strains were seen with the nonagouti (p<0.001), myosin VA (p<0.001), tyrosinase (p = 0.025) and tyrosinase related protein (p = 0.001) genes. These findings provide support for our hypothesis that pigmentation is associated with CCT and identifies pigment-related genes as candidates for developmental determination of a non-pigmented structure.
Keywords: Cornea; Animals; Mice, Inbred Strains; Humans; Mice; Skin Pigmentation; Cohort Studies; Genotype; Phenotype; Adult; Aged; Ethnic Groups; Female; Male; Genetic Association Studies
Rights: Copyright: © 2011 Dimasi et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
RMID: 0020113100
DOI: 10.1371/journal.pone.0022103
Appears in Collections:Earth and Environmental Sciences publications
Environment Institute publications

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