Genetic and environmental risk factors for reticular pseudodrusen in the EUGENDA study.

IF 1.8 3区医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Molecular Vision Pub Date : 2021-12-31 eCollection Date: 2021-01-01

Lebriz Altay, Sandra Liakopoulos, Aileen Berghold, Kerstin-Daniela Rosenberger, Angela Ernst, Anita de Breuk, Anneke I den Hollander, Sascha Fauser, Tina Schick

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Abstract

Purpose: The purpose of this study was to analyze genetic and nongenetic associations with reticular pseudodrusen (RPD) in patients with and without age-related macular degeneration (AMD).

Methods: This case-control study included 2,719 consecutive subjects from the prospective multicenter European Genetic Database (EUGENDA). Color fundus photographs and optical coherence tomography (OCT) scans were evaluated for the presence of AMD and RPD. Association of RPD with 39 known AMD polymorphisms and various nongenetic risk factors was evaluated. Stepwise backward variable selection via generalized linear models (GLMs) was performed based on models including the following: a) age, sex, and genetic factors and b) all predictors. Receiver operating characteristic (ROC) curves and the areas under the curve (AUCs) were determined.

Results: RPD were present in 262 cases (no AMD, n = 9 [0.7%; early/intermediate AMD, n = 75 [12.4%]; late AMD, n = 178 [23.8%]). ROC analysis of the genetic model including age, APOE rs2075650, ARMS2 rs10490924, CFH rs800292, CFH rs12144939, CFI rs10033900, COL8A1 rs13081855, COL10A1 rs3812111, GLI3 rs2049622, and SKIV2L rs4296082 revealed an AUC of 0.871. Considering all possible predictors, backward selection revealed a slightly different set of genetic factors, as well as the following nongenetic risk factors: smoking, rheumatoid arthritis, steroids, antiglaucomatous drugs, and past sunlight exposure; the results showed an AUC of 0.886.

Conclusions: RPD share a variety of genetic and nongenetic risk factors with AMD. Future AMD grading systems should integrate RPD as an important risk phenotype.

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EUGENDA研究中网状假蝇的遗传和环境危险因素。

目的:本研究的目的是分析患有和不患有年龄相关性黄斑变性(AMD)的网状假性黄斑变性(RPD)患者的遗传和非遗传相关性。方法:本病例对照研究纳入前瞻性多中心欧洲遗传数据库(EUGENDA)的2,719例连续受试者。彩色眼底照片和光学相干断层扫描(OCT)评估AMD和RPD的存在。评估了RPD与39种已知AMD多态性和各种非遗传危险因素的关系。通过广义线性模型(GLMs)进行逐步后向变量选择，基于以下模型:a)年龄、性别和遗传因素;b)所有预测因子。测定受试者工作特征曲线(ROC)和曲线下面积(auc)。结果:RPD 262例(无AMD, n = 9 [0.7%];早期/中期AMD, n = 75 [12.4%];晚期AMD, n = 178[23.8%])。对年龄、APOE rs2075650、ARMS2 rs10490924、CFH rs800292、CFH rs12144939、CFI rs10033900、COL8A1 rs13081855、COL10A1 rs3812111、GLI3 rs2049622、SKIV2L rs4296082等遗传模型进行ROC分析，AUC为0.871。考虑到所有可能的预测因素，逆向选择揭示了一组略有不同的遗传因素，以及以下非遗传风险因素:吸烟、类风湿关节炎、类固醇、抗青光眼药物和过去的阳光照射;结果表明，AUC为0.886。结论:RPD与AMD具有多种遗传和非遗传危险因素。未来的AMD分级系统应该将RPD作为一个重要的风险表型。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Vision 生物-生化与分子生物学

CiteScore

4.40

自引率

0.00%

发文量

审稿时长

1 months

期刊介绍： Molecular Vision is a peer-reviewed journal dedicated to the dissemination of research results in molecular biology, cell biology, and the genetics of the visual system (ocular and cortical). Molecular Vision publishes articles presenting original research that has not previously been published and comprehensive articles reviewing the current status of a particular field or topic. Submissions to Molecular Vision are subjected to rigorous peer review. Molecular Vision does NOT publish preprints. For authors, Molecular Vision provides a rapid means of communicating important results. Access to Molecular Vision is free and unrestricted, allowing the widest possible audience for your article. Digital publishing allows you to use color images freely (and without fees). Additionally, you may publish animations, sounds, or other supplementary information that clarifies or supports your article. Each of the authors of an article may also list an electronic mail address (which will be updated upon request) to give interested readers easy access to authors.