Genetically predicted retinal vascular occlusion in relation to cardiovascular diseases: A bidirectional two-sample Mendelian randomization analysis

IF 1 4区生物学 Q4 GENETICS & HEREDITY

Annals of Human Genetics Pub Date : 2024-02-19 DOI:10.1111/ahg.12552

Jun Zhang, Yiji Pan, Hongxia Yang, Shuqiong Hu, Sheng Zheng, Tao He

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Abstract

Introduction

Increasing evidence implicates retinal vascular occlusions as a susceptibility factor for cardiovascular diseases (CVDs), whereas inconsistent results on the relationship were reported in previous observational studies. This research using a bidirectional two-sample Mendelian randomization (MR) analysis aimed to investigate the potential association between genetically determined central/branch retinal artery and retinal vein occlusions (CRAO/BRAO/RVO) and the risk of CVD.

Methods

Summary statistics of retinal vascular occlusions from the largest available genome-wide association study of European descent were used to investigate their relationship with CVDs, and vice versa. Primary analyses were conducted using the common inverse-variance weighted approach. Several complementary sensitivity analyses were performed to verify the reliability of our results.

Results

Inverse variance weighted method showed suggestive effects of genetically determined RVO on ischemic stroke (IS) (odds ratio [OR] = 1.021, 95% confidence [CI] = 1.004–1.037, p = 0.012), a genetic liability to CRAO increased the risk of myocardial infarction (MI) (OR = 1.014, 95% CI = 1.006–1.023, p = 7.0 × 10−4). In addition, genetic predisposition to BRAO had a positive effect on stroke (OR = 1.008, 95% CI = 1.002–1.013, p = 0.011), IS (OR = 1.007, 95% CI = 1.001–1.014, p = 0.022), and cardioembolic stroke (CES) (OR = 1.018, 95% CI = 1.006–1.031, p = 0.004). The point estimates from sensitivity analyses were in the same direction. Reverse MR analyses found no significant evidence for the effect of CVDs on retinal vascular occlusions.

Conclusion

Our MR study provides potential evidence that retinal vascular occlusions are causally linked to increased risk of CVDs including IS, MI, stroke, and CES. This supports the need for clinical CVD screening in individuals with retinal vascular occlusions. Further investigations are warranted to clarify the effects of CVDs on ocular comorbidities.

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基因预测视网膜血管闭塞与心血管疾病的关系：双向双样本孟德尔随机分析

导言：越来越多的证据表明，视网膜血管闭塞是心血管疾病（CVDs）的易感性因素之一，但以往的观察性研究对两者关系的研究结果并不一致。本研究采用双向双样本孟德尔随机分析法（MR），旨在调查由基因决定的视网膜中央/分支动脉和视网膜静脉闭塞症（CRAO/BRAO/RVO）与心血管疾病风险之间的潜在关联：方法：使用现有最大的欧洲血统全基因组关联研究中的视网膜血管闭塞汇总统计数据来调查它们与心血管疾病的关系，反之亦然。主要分析采用常见的逆方差加权法进行。为了验证结果的可靠性，我们还进行了几项补充敏感性分析：结果：逆方差加权法显示，遗传决定的 RVO 对缺血性中风（IS）有提示性影响（几率比 [OR] = 1.021，95% 置信度 [CI] = 1.004-1.037，p = 0.012），CRAO 的遗传易感性增加了心肌梗死（MI）的风险（OR = 1.014，95% CI = 1.006-1.023，p = 7.0 × 10-4）。此外，BRAO 遗传易感性对中风（OR = 1.008，95% CI = 1.002-1.013，p = 0.011）、IS（OR = 1.007，95% CI = 1.001-1.014，p = 0.022）和心肌栓塞性中风（CES）（OR = 1.018，95% CI = 1.006-1.031，p = 0.004）有积极影响。敏感性分析得出的点估计值方向相同。反向磁共振分析没有发现心血管疾病对视网膜血管闭塞有影响的重要证据：我们的磁共振研究提供了视网膜血管闭塞与心血管疾病（包括IS、MI、中风和CES）风险增加有因果关系的潜在证据。这支持了对视网膜血管闭塞患者进行心血管疾病临床筛查的必要性。还需要进一步研究，以明确心血管疾病对眼部合并症的影响。

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

Annals of Human Genetics 生物-遗传学

CiteScore

4.20

自引率

0.00%

发文量

审稿时长

3 months

期刊介绍： Annals of Human Genetics publishes material directly concerned with human genetics or the application of scientific principles and techniques to any aspect of human inheritance. Papers that describe work on other species that may be relevant to human genetics will also be considered. Mathematical models should include examples of application to data where possible. Authors are welcome to submit Supporting Information, such as data sets or additional figures or tables, that will not be published in the print edition of the journal, but which will be viewable via the online edition and stored on the website.