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强直性脊柱炎与眼部炎症性疾病之间的因果关系:一项孟德尔随机化研究。

Causal relationship between ankylosing spondylitis and ocular inflammatory diseases: a Mendelian randomization study.

作者信息

Wang Yuxuan, Zhang Caishun, Zhang Qing, Jiang Yutong, Zhang Yuxuan, Dong Jing

机构信息

Clinical Medicine Department, College of Basic Medicine, Qingdao University, Qingdao, China.

School of Nursing, Qingdao University, Qingdao, China.

出版信息

Front Genet. 2024 Oct 17;15:1372196. doi: 10.3389/fgene.2024.1372196. eCollection 2024.

DOI:10.3389/fgene.2024.1372196
PMID:39483852
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11524906/
Abstract

BACKGROUND

Observational studies have shown an increased risk of ocular inflammatory diseases in patients with ankylosing spondylitis (AS), but the genetically predicted association remains unclear. The aim of this study was to systematically assess the causal relationship between AS and ocular inflammatory diseases.

METHODS

We conducted a two-sample Mendelian randomization (MR) analysis to investigate the causal relationship between AS and several common ocular inflammatory diseases based on genome-wide association study (GWAS) data and public health data. Five methods, namely, inverse-variance weighted (IVW), MR-Egger, weighted median, weighted mode, and simple mode, were used. Sensitivity analysis was performed using MR-Egger intercept, Mendelian Randomization Pleiotropy RESidual Sum and Outlier (MR-PRESSO), Cochran's Q test, outlier methods, leave-one-out analysis, and funnel plots.

RESULTS

The MR analysis showed a significantly increased risk of uveitis (OR = 2.825, 95%CI = 1.709-4.672, and P < 0.001), iridocyclitis (OR = 3.806, 95%CI = 2.809-5.157, and P < 0.001), scleritis (OR = 1.738, 95%CI = 1.190-2.539, and P < 0.001), and episcleritis (OR = 5.113, 95%CI = 2.067-12.645, and P = 0.004) associated with AS. However, no correlation was found between genetically predicted AS and keratitis (OR = 1.041, 95%CI = 0.886-1.222, and P = 0.628) and optic neuritis (OR = 0.868, 95%CI = 0.441-1.709, and P = 0.682).

CONCLUSION

AS increases the genetically predicted risk for uveitis, iridocyclitis, scleritis, and episcleritis. No potential association of AS with keratitis and optic neuritis was found. It may provide clues for the prevention of AS complications.

摘要

背景

观察性研究表明,强直性脊柱炎(AS)患者发生眼部炎性疾病的风险增加,但基因预测的关联仍不明确。本研究的目的是系统评估AS与眼部炎性疾病之间的因果关系。

方法

我们基于全基因组关联研究(GWAS)数据和公共卫生数据,进行了两样本孟德尔随机化(MR)分析,以研究AS与几种常见眼部炎性疾病之间的因果关系。使用了五种方法,即逆方差加权(IVW)、MR-Egger、加权中位数、加权模式和简单模式。使用MR-Egger截距、孟德尔随机化多效性残差和离群值(MR-PRESSO)、 Cochr an's Q检验、离群值方法、留一法分析和漏斗图进行敏感性分析。

结果

MR分析显示,AS与葡萄膜炎(OR = 2.825,95%CI = 1.709 - 4.672,P < 0.001)、虹膜睫状体炎(OR = 3.806,95%CI = 2.809 - 5.157,P < 0.001)、巩膜炎(OR = 1.738,95%CI = 1.190 - 2.539,P < 0.001)和表层巩膜炎(OR = 5.113,95%CI = 2.067 - 12.645,P = 0.004)的关联显著增加。然而,基因预测的AS与角膜炎(OR = 1.041,95%CI = 0.886 - 1.222,P = 0.628)和视神经炎(OR = 0.868,CI = 0.441 - 1.709,P = 0.682)之间未发现相关性。

结论

AS增加了基因预测的葡萄膜炎、虹膜睫状体炎、巩膜炎和表层巩膜炎的风险。未发现AS与角膜炎和视神经炎之间存在潜在关联。这可能为预防AS并发症提供线索。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45ef/11524906/5dada4569c65/fgene-15-1372196-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45ef/11524906/02ce49769484/fgene-15-1372196-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45ef/11524906/8a48133dcd15/fgene-15-1372196-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45ef/11524906/27127b3a87d3/fgene-15-1372196-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45ef/11524906/5dada4569c65/fgene-15-1372196-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45ef/11524906/02ce49769484/fgene-15-1372196-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45ef/11524906/8a48133dcd15/fgene-15-1372196-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45ef/11524906/27127b3a87d3/fgene-15-1372196-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45ef/11524906/5dada4569c65/fgene-15-1372196-g004.jpg

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