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

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.

SUBMITTER: Dimasi DP

PROVIDER: S-EPMC3154201 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

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

Dimasi David P DP Hewitt Alex W AW Kagame Kenneth K Ruvama Sam S Tindyebwa Ludovica L Llamas Bastien B Kirk Kirsty A KA Mitchell Paul P Burdon Kathryn P KP Craig Jamie E JE

PloS one 20110810 8

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 ocu ...[more]

PMID: 21853026

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Project description:ImportanceThicker or thinner central corneas may lead to either overestimation or underestimation of intraocular pressure, which is the most important causal and treatable risk factor for glaucoma. However, the findings on the associations between diabetes, random glucose, and glycated hemoglobin A1c (HbA1c) with central corneal thickness (CCT) are conflicting.ObjectiveTo evaluate the associations between diabetes, random glucose, and HbA1c with CCT in a multiethnic Asian population.Design, setting, and participantsCross-sectional analysis of the Singapore Epidemiology of Eye Diseases (SEED) Study conducted from 2004 to 2011. A total of 10?033 Chinese, Malay, and Indian individuals 40 years or older residing in Singapore were recruited. Participants with incomplete information on diabetes status (448 participants), prior refractive or cataract surgery (1940 eyes), and corneal edema or dystrophy (29 eyes) were excluded. A meta-analysis was conducted to estimate the overall association of diabetes with CCT.ExposuresStandardized clinical examinations and interviewer-administered questionnaire to collect information about demographic, systemic, and ocular factors.Main outcomes and measuresMeasurement of CCT using ultrasound pachymetry.ResultsA total of 8846 adults (mean [SD] age, 57.9 [9.9] years; 4447 women [50.3%]) (17?201 eyes) were included in the final analyses. The CCT profile was similar among participants with and without diabetes (mean [SD] CCT, 545.3 [33.7] ?m vs 544.8 [33.9] ?m; P?=?.39). Following adjustments of age, sex, ethnicity, corneal curvature, axial length, and body mass index, CCT was a mean (SD) of 4.9 (0.8) ?m (95% CI, 3.3-6.5 ?m) thicker in patients with diabetes than those without diabetes. Multivariable analyses also showed that thicker CCT was associated with higher random glucose (per 10 mg/dL [to convert to mmol/L, multiply by 0.0555], ??=?0.3; 95% CI, 0.2-0.4) and higher HbA1c (per percentage, ??=?1.5; 95% CI, 1.0-2.1) (all P?<?.001). These associations were significant in the subgroup with diabetes but not in the subgroup without diabetes. A meta-analysis including 12 previous population- and clinical-based studies showed that CCT was 12.8 ?m (95% CI, 8.2-17.5 ?m) thicker in eyes of patients with diabetes.Conclusions and relevanceThese findings suggest that diabetes and hyperglycemia were associated with thicker CCT. This study provides useful information on the interpretation of intraocular pressure in patients with diabetes.

Dataset Information

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

Publications

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

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