Bonnemaijer Pieter W M, Cook Colin, Nag Abhishek, Hammond Christopher J, van Duijn Cornelia M, Lemij Hans G, Klaver Caroline C W, Thiadens Alberta A H J
Department of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands 2Department of Epidemiology, Erasmus MC, Rotterdam, The Netherlands.
Division of Ophthalmology, University of Cape Town, Cape Town, South Africa.
Invest Ophthalmol Vis Sci. 2017 Jun 1;58(7):3172-3180. doi: 10.1167/iovs.17-21716.
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.
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.
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).
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.
通过估计来自南非混血有色人种(SAC)和南非黑人(SAB)人群的原发性开角型青光眼(POAG)患者及对照者的遗传非洲血统(GAA)比例,来揭示非洲血统、中央角膜厚度(CCT)和眼压(IOP)之间的关系。
在这项病例对照研究中,从南非开普敦的一家大学诊所招募了268例POAG患者和137名对照者。所有参与者均在Illumina HumanOmniExpress芯片或HumanOmni2.5外显子芯片上进行基因分型。使用ADMIXTURE软件在86,632个单核苷酸多态性(SNP)中推断参与者的GAA。采用线性和逻辑回归模型评估GAA、POAG、CCT和IOP之间的关系。
研究人群中GAA的中位数比例为60%。在POAG患者中,GAA与较薄的CCT(P < 0.001)和IOP(P = 0.034)显著相关。POAG患者与对照者相比,GAA对CCT的影响略有不同(P = 0.066)。在POAG患者中,校正年龄和性别后,CCT明显比对照者薄(P = 0.016)。在GAA>60%的参与者的分层分析中,CCT与POAG无关(P = 0.550)。
本研究表明,在POAG患者中,较高比例的GAA与较薄的CCT和较高的IOP相关。值得注意的是,在较高比例的GAA时,POAG和对照者之间CCT的差异减小。这表明在非洲人中,较薄的CCT与POAG无关。