PURPOSE. To unravel the relationship between African ancestry, central corneal thickness (CCT), and intraocular pressure (IOP) by estimating the genetic African ancestry (GAA) proportion in primary open-angle glaucoma (POAG) patients and controls from an admixed South African Colored (SAC) and a South African Black (SAB) population. METHODS. In this case-control study, 268 POAG patients and 137 controls were recruited from a university clinic in Cape Town, South Africa. All participants were genotyped on the Illumina HumanOmniExpress beadchip or HumanOmni2.5Exome beadchip. ADMIXTURE was used to infer participant’s GAA among 86,632 SNPs. Linear and logistic regression models were used to assess the relation between GAA, POAG, CCT, and IOP. RESULTS. The median proportion of GAA was 60% in the study population. GAA was significantly associated with thinner CCT (P < 0.001) and IOP (P = 0.034) in POAG patients. The effect of GAA on CCT was marginally different among POAG patients versus controls (P = 0.066). In POAG patients, the CCT was significantly thinner compared to controls after adjusting for age and sex (P = 0.016). In a stratified analysis in participants with >60% GAA, CCT was not associated with POAG (P = 0.550). CONCLUSIONS. This study demonstrated that a higher proportion of GAA was associated with a thinner CCT and a higher IOP in POAG patients. Remarkably, at higher proportions of GAA, the difference in CCT between POAG and controls was reduced. This suggests that thinner CCT is not associated with POAG in Africans.

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Keywords Central corneal thickness, Genetic African ancestry, Glaucoma, Intraocular pressure
Persistent URL dx.doi.org/10.1167/iovs.17-21716, hdl.handle.net/1765/108528
Journal Investigative Ophthalmology & Visual Science
Bonnemaijer, P.W.M, Cook, C. (Colin), Nag, A, Hammond, C.J, van Duijn, C.M, Lemij, H.G. (Hans G.), … Thiadens, A.A.H.J. (2017). Genetic African ancestry is associated with central corneal thickness and intraocular pressure in primary open-angle glaucoma. Investigative Ophthalmology & Visual Science, 58(7), 3172–3180. doi:10.1167/iovs.17-21716