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Ethnic and mouse strain differences in central corneal thickness and association with pigmentation phenotype

Citation

Dimasi, DP and Hewitt, AW and Kagame, K and Ruvama, S and Tindyebwa, L and Llamas, B and Kirk, KA and Mitchell, P and Burdon, KP and Craig, JE, Ethnic and mouse strain differences in central corneal thickness and association with pigmentation phenotype, PLoS One, 6, (8) Article e22103. ISSN 1932-6203 (2011) [Refereed Article]


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Copyright Statement

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.

DOI: doi:10.1371/journal.pone.0022103

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.

Item Details

Item Type:Refereed Article
Research Division:Medical and Health Sciences
Research Group:Ophthalmology and Optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Hearing, Vision, Speech and Their Disorders
Author:Hewitt, AW (Dr Alex Hewitt)
Author:Burdon, KP (Associate Professor Kathryn Burdon)
ID Code:90659
Year Published:2011
Web of Science® Times Cited:7
Deposited By:Menzies Institute for Medical Research
Deposited On:2014-04-16
Last Modified:2017-11-06
Downloads:191 View Download Statistics

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