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非洲裔青光眼患者中与可见筛板孔相关的特征:原发性开角型非洲裔青光眼遗传学(POAAGG)研究。

Features Associated with Visible Lamina Cribrosa Pores in Individuals of African Ancestry with Glaucoma: Primary Open-Angle African Ancestry Glaucoma Genetics (POAAGG) Study.

作者信息

Jordan Jalin A, Daniel Ebenezer, Chen Yineng, Salowe Rebecca J, Zhu Yan, Miller-Ellis Eydie, Addis Victoria, Sankar Prithvi S, Zhu Di, Smith Eli J, Lee Roy, Ying Gui-Shuang, O'Brien Joan M

机构信息

Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA.

出版信息

Vision (Basel). 2024 Apr 18;8(2):24. doi: 10.3390/vision8020024.

Abstract

There are scarce data regarding the rate of the occurrence of primary open-angle glaucoma (POAG) and visible lamina cribrosa pores (LCPs) in the eyes of individuals with African ancestry; the potential impact of these features on disease burden remains unknown. We recruited subjects with POAG to the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study. Through regression models, we evaluated the association between the presence of LCPs and various phenotypic features. In a multivariable analysis of 1187 glaucomatous eyes, LCPs were found to be more likely to be present in eyes with cup-to-disc ratios (CDR) of ≥0.9 (adjusted risk ratio (aRR) 1.11, 95%CI: 1.04-1.19, = 0.005), eyes with cylindrical-shaped (aRR 1.22, 95%CI: 1.11-1.33) and bean pot (aRR 1.24, 95%CI: 1.13-1.36) cups versus conical cups ( < 0.0001), moderate cup depth (aRR 1.24, 95%CI: 1.06-1.46) and deep cups (aRR 1.27, 95%CI: 1.07-1.50) compared to shallow cups ( = 0.01), and the nasalization of central retinal vessels (aRR 1.33, 95%CI: 1.23-1.44), < 0.0001). Eyes with LCPs were more likely to have a higher degree of African ancestry (q0), determined by means of SNP analysis (aRR 0.96, 95%CI: 0.93-0.99, = 0.005 for per 0.1 increase in q0). Our large cohort of POAG cases of people with African ancestry showed that LCPs may be an important risk factor in identifying severe disease, potentially warranting closer monitoring by physicians.

摘要

关于非洲裔个体眼中原发性开角型青光眼(POAG)的发生率以及可见的筛板孔(LCPs)的数据很少;这些特征对疾病负担的潜在影响仍然未知。我们招募了患有POAG的受试者参与原发性开角型非裔美国人青光眼遗传学(POAAGG)研究。通过回归模型,我们评估了LCPs的存在与各种表型特征之间的关联。在对1187只青光眼眼睛的多变量分析中,发现LCPs更有可能出现在杯盘比(CDR)≥0.9的眼睛中(调整风险比(aRR)1.11,95%置信区间:1.04 - 1.19,P = 0.005),与圆锥形杯相比,圆柱形杯(aRR 1.22,95%置信区间:1.11 - 1.33)和豆罐形杯(aRR 1.24,95%置信区间:1.13 - 1.36)的眼睛中LCPs更易出现(P < 0.0001),与浅杯相比,中度杯深(aRR 1.24,95%置信区间:1.06 - 1.46)和深杯(aRR 1.27,95%置信区间:1.07 - 1.50)的眼睛中LCPs更易出现(P = 0.01),以及视网膜中央血管鼻化(aRR 1.33,95%置信区间:1.23 - 1.44)的眼睛中LCPs更易出现(P < 0.0001)。通过单核苷酸多态性(SNP)分析确定,有LCPs的眼睛更有可能具有更高程度的非洲血统(q0)(q0每增加0.1,aRR 0.96,95%置信区间:0.93 - 0.99,P = 0.005)。我们对大量非洲裔POAG病例的队列研究表明,LCPs可能是识别严重疾病的一个重要风险因素,医生可能需要对其进行更密切的监测。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a8e7/11036295/de3e5cc64db0/vision-08-00024-g001.jpg

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