Genetic associations of central serous chorioretinopathy subtypes, neovascular age-related macular degeneration, and polypoidal choroidal vasculopathy

IF 3.7 3区医学 Q1 OPHTHALMOLOGY

Asia-Pacific Journal of Ophthalmology Pub Date : 2024-01-01 DOI:10.1016/j.apjo.2023.100003

Zhen Ji Chen , Danny S. Ng , Mary Ho , Shi Yao Lu , Pancy O.S. Tam , Alvin L. Young , Marten E. Brelen , Jason C. Yam , Clement C. Tham , Chi Pui Pang , Li Jia Chen

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引用次数: 0

Abstract

Purpose

To evaluate the genetic associations of different subtypes of central serous chorioretinopathy (CSCR), neovascular age-related macular degeneration (nAMD), and polypoidal choroidal vasculopathy (PCV).

Design

A case-control genetic association study.

Methods

This study enrolled 217 CSCR, 341 nAMD, 288 PCV patients, and 1380 controls. The CSCR patients were classified into those with focal or diffuse leakage, with or without pigment epithelial detachment (PED), and with or without macular neovascularization (MNV). Associations between 11 variants from 8 genes, ADAMTS9, ANGPT2, ARMS2, CFH, NR3C2, PGF, TNFRSF10A and VIPR2, and diseases/subtypes were analyzed by logistic regression analysis adjusted for age and sex, and inter-phenotype comparison by heterogeneity test.

Results

The CFH rs800292-A conferred a protective effect for CSCR with MNV (OR=0.44, P = 0.002) and a risk effect for CSCR without MNV (OR=1.31, P = 0.023). CSCR patients carrying rs800292-G had a 3.23-fold of increased risk towards developing secondary MNV (P = 1.45 ×10^-4). CFH rs3753394, rs800292 and rs1329428 showed similar effects among CSCR with MNV, nAMD and PCV, but opposite effects on CSCR without MNV. TNFRSF10A rs13278062-T was associated with overall CSCR but not with CSCR subtypes, nAMD or PCV. Moreover, CFH and ARMS2 SNPs showed heterogeneous effects in CSCR without MNV against CSCR with MNV, nAMD and PCV.

Conclusions

Genetic associations of CSCR with MNV resembled nAMD and PCV compared to CSCR without MNV, indicating differential genetic effects on neovascularization and choroidopathy. Further investigation of the functional roles of CFH, ARMS2, and TNFRSF10A in CSCR, nAMD and PCV should help elucidate the mechanisms of these maculopathies.

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中心性浆液性脉络膜视网膜病变亚型、新生血管性老年黄斑变性和多形性脉络膜血管病的遗传关联

目的评估中心性浆液性脉络膜视网膜病变（CSCR）、新生血管性年龄相关性黄斑变性（nAMD）和多形性脉络膜血管病（PCV）不同亚型的遗传关联。CSCR患者分为局灶性或弥漫性渗漏、有或无色素上皮脱落（PED）、有或无黄斑新生血管（MNV）。通过调整年龄和性别后的逻辑回归分析，以及异质性检验和表型间比较，分析了ADAMTS9、ANGPT2、ARMS2、CFH、NR3C2、PGF、TNFRSF10A和VIPR2这8个基因的11个变异与疾病/亚型之间的相关性。结果CFH rs800292-A对伴有MNV的CSCR具有保护作用（OR=0.44，P=0.002），对不伴有MNV的CSCR具有风险作用（OR=1.31，P=0.023）。携带 rs800292-G 的 CSCR 患者罹患继发性 MNV 的风险增加了 3.23 倍（P = 1.45 ×10-4）。CFH rs3753394、rs800292 和 rs1329428 在伴有 MNV、nAMD 和 PCV 的 CSCR 中显示出相似的效应，但在不伴有 MNV 的 CSCR 中却显示出相反的效应。TNFRSF10A rs13278062-T 与总体 CSCR 相关，但与 CSCR 亚型、nAMD 或 PCV 无关。此外，CFH和ARMS2 SNPs在无MNV的CSCR与有MNV的CSCR、nAMD和PCV中显示出异质性效应。结论与无MNV的CSCR相比，有MNV的CSCR与nAMD和PCV的遗传关联相似，这表明遗传对新生血管和脉络膜病变的影响不同。进一步研究 CFH、ARMS2 和 TNFRSF10A 在 CSCR、nAMD 和 PCV 中的功能作用将有助于阐明这些黄斑病变的机制。

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

Asia-Pacific Journal of Ophthalmology OPHTHALMOLOGY-

CiteScore

8.10

自引率

18.20%

发文量

197

审稿时长

6 weeks

期刊介绍： The Asia-Pacific Journal of Ophthalmology, a bimonthly, peer-reviewed online scientific publication, is an official publication of the Asia-Pacific Academy of Ophthalmology (APAO), a supranational organization which is committed to research, training, learning, publication and knowledge and skill transfers in ophthalmology and visual sciences. The Asia-Pacific Journal of Ophthalmology welcomes review articles on currently hot topics, original, previously unpublished manuscripts describing clinical investigations, clinical observations and clinically relevant laboratory investigations, as well as .perspectives containing personal viewpoints on topics with broad interests. Editorials are published by invitation only. Case reports are generally not considered. The Asia-Pacific Journal of Ophthalmology covers 16 subspecialties and is freely circulated among individual members of the APAO’s member societies, which amounts to a potential readership of over 50,000.