• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

中央角膜厚度与原发性开角型青光眼风险：孟德尔随机化中介分析

Central corneal thickness and the risk of primary open-angle glaucoma: a Mendelian randomisation mediation analysis.

作者信息

Katsimpris Andreas, Baumeister Sebastian-Edgar, Baurecht Hansjörg, Tatham Andrew J, Nolde Michael

机构信息

Department of Ophthalmology, Princess Alexandra Eye Pavilion, Edinburgh, UK.

Institute of Health Services Research in Dentistry, University of Münster, Münster, Germany.

出版信息

Br J Ophthalmol. 2024 Dec 17;109(1):52-57. doi: 10.1136/bjo-2023-324996.

DOI:10.1136/bjo-2023-324996
PMID:39117358
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11672028/
Abstract

BACKGROUND

The association of central corneal thickness (CCT) with primary open-angle glaucoma (POAG) remains uncertain. Although several observational studies assessing this relationship have reported an inverse association between CCT and POAG, this could be the result of collider bias. In this study, we leveraged human genetic data to assess through Mendelian randomisation (MR) the effect of CCT on POAG risk and whether this effect is mediated by intraocular pressure (IOP) changes.

METHODS

We used 24 single-nucleotide polymorphisms (SNPs) associated with CCT (p value<5×10) from a genome-wide association study (GWAS) (N=17 803) provided by the International Glaucoma Genetics Consortium and 53 SNPs associated with IOP (p value<5×10) from a GWAS of the UK Biobank (UKBB) (N=97 653). We related these instruments to POAG using a GWAS meta-analysis of 8283 POAG cases and 753 827 controls from UKBB and FinnGen.

RESULTS

MR analysis suggested a positive association between CCT and POAG (OR of POAG per 50 µm increase in CCT: 1.38; 95% CI: 1.18 to 1.61; p value<0.01). MR mediation analysis showed that 28.4% of the total effect of CCT on POAG risk was mediated through changes in IOP. The primary results were consistent with estimates of pleiotropy-robust MR methods.

CONCLUSION

Contrary to most observational studies, our results showed that a higher CCT is associated with an increased risk of POAG.

摘要

背景

中央角膜厚度（CCT）与原发性开角型青光眼（POAG）之间的关联仍不明确。尽管多项评估这种关系的观察性研究报告称CCT与POAG之间存在负相关，但这可能是对撞偏倚的结果。在本研究中，我们利用人类遗传数据，通过孟德尔随机化（MR）来评估CCT对POAG风险的影响，以及这种影响是否由眼压（IOP）变化介导。

方法

我们使用了来自国际青光眼遗传学联盟提供的全基因组关联研究（GWAS）（N = 17803）中与CCT相关的24个单核苷酸多态性（SNP）（p值<5×10），以及来自英国生物银行（UKBB）的GWAS（N = 97653）中与IOP相关的53个SNP（p值<5×10）。我们通过对来自UKBB和芬兰基因库的8283例POAG病例和753827例对照进行GWAS荟萃分析，将这些工具变量与POAG关联起来。

结果

MR分析表明CCT与POAG之间存在正相关（CCT每增加50µm时POAG的比值比：1.38；95%可信区间：1.18至1.61；p值<0.01）。MR中介分析表明，CCT对POAG风险的总效应中有28.4%是通过IOP变化介导的。主要结果与多效性稳健MR方法的估计结果一致。

结论

与大多数观察性研究相反，我们的结果表明，较高的CCT与POAG风险增加相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b2ae/11672028/6229706bc9bc/bjo-109-1-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b2ae/11672028/4d985414a084/bjo-109-1-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b2ae/11672028/6fa4eb282cfd/bjo-109-1-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b2ae/11672028/6229706bc9bc/bjo-109-1-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b2ae/11672028/4d985414a084/bjo-109-1-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b2ae/11672028/6fa4eb282cfd/bjo-109-1-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b2ae/11672028/6229706bc9bc/bjo-109-1-g003.jpg

相似文献

1
Central corneal thickness and the risk of primary open-angle glaucoma: a Mendelian randomisation mediation analysis.中央角膜厚度与原发性开角型青光眼风险：孟德尔随机化中介分析
Br J Ophthalmol. 2024 Dec 17;109(1):52-57. doi: 10.1136/bjo-2023-324996.
2
Causal relationship between central corneal thickness and open-angle glaucoma: Evidence from Mendelian randomization.中央角膜厚度与开角型青光眼之间的因果关系：来自孟德尔随机化的证据。
Exp Eye Res. 2024 Sep;246:110000. doi: 10.1016/j.exer.2024.110000. Epub 2024 Jul 9.
3
Intraocular pressure, primary open-angle glaucoma and the risk of retinal vein occlusion: A Mendelian randomization mediation analysis.眼内压、原发性开角型青光眼与视网膜静脉阻塞风险：孟德尔随机化中介分析。
Eye (Lond). 2024 Dec;38(17):3347-3351. doi: 10.1038/s41433-024-03303-x. Epub 2024 Aug 15.
4
Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia.在 NEIGHBOR 和 GLAUGEN 合作研究中，对原发性开角型青光眼患者的中央角膜厚度进行全基因组分析。
Invest Ophthalmol Vis Sci. 2012 Jul 3;53(8):4468-74. doi: 10.1167/iovs.12-9784.
5
Genetic risk factors associated with ocular perfusion pressure in primary open-angle glaucoma.与原发性开角型青光眼眼灌注压相关的遗传风险因素。
Hum Genomics. 2025 Mar 24;19(1):31. doi: 10.1186/s40246-025-00738-5.
6
No Evidence That Vitamin D Levels or Deficiency Are Associated with the Risk of Open-Angle Glaucoma in Individuals of European Ancestry: A Mendelian Randomisation Analysis.没有证据表明维生素 D 水平或缺乏与欧洲血统个体的开角型青光眼风险相关：一项孟德尔随机分析。
Genes (Basel). 2024 Aug 16;15(8):1084. doi: 10.3390/genes15081084.
7
Genome-wide linkage and association analysis of primary open-angle glaucoma endophenotypes in the Norfolk Island isolate.诺福克岛隔离人群原发性开角型青光眼内表型的全基因组连锁和关联分析。
Mol Vis. 2017 Sep 28;23:660-665. eCollection 2017.
8
Genetic African Ancestry Is Associated With Central Corneal Thickness and Intraocular Pressure in Primary Open-Angle Glaucoma.非洲遗传血统与原发性开角型青光眼的中央角膜厚度和眼压相关。
Invest Ophthalmol Vis Sci. 2017 Jun 1;58(7):3172-3180. doi: 10.1167/iovs.17-21716.
9
Causal relationships between Gut microbiota and primary open-angle Glaucoma: A Mendelian randomization and mediation analysis of Glaucoma endophenotypes.肠道微生物群与原发性开角型青光眼之间的因果关系：青光眼表型的孟德尔随机化和中介分析。
Exp Eye Res. 2024 Mar;240:109788. doi: 10.1016/j.exer.2024.109788. Epub 2024 Jan 11.
10
Cannabis use and the risk of primary open-angle glaucoma: a Mendelian randomization study.大麻使用与原发性开角型青光眼风险：一项孟德尔随机化研究。
Sci Rep. 2023 Nov 10;13(1):19605. doi: 10.1038/s41598-023-45872-z.

本文引用的文献

1
Mendelian randomization.孟德尔随机化
Nat Rev Methods Primers. 2022 Feb 10;2. doi: 10.1038/s43586-021-00092-5.
2
Selection bias due to conditioning on a collider.由于在共变器上进行条件处理而导致的选择偏差。
BMJ. 2023 Jun 7;381:1135. doi: 10.1136/bmj.p1135.
3
FinnGen provides genetic insights from a well-phenotyped isolated population.FinnGen 为一个表型良好的隔离人群提供了遗传学方面的见解。
Nature. 2023 Jan;613(7944):508-518. doi: 10.1038/s41586-022-05473-8. Epub 2023 Jan 18.
4
Potential for Collider Bias in Studies Examining the Association of Central Corneal Thickness With Glaucoma.研究中央角膜厚度与青光眼相关性时的碰撞偏倚的可能性。
Invest Ophthalmol Vis Sci. 2022 Nov 1;63(12):3. doi: 10.1167/iovs.63.12.3.
5
Collider Bias.对撞机偏差
JAMA. 2022 Apr 5;327(13):1282-1283. doi: 10.1001/jama.2022.1820.
6
Strengthening the reporting of observational studies in epidemiology using mendelian randomisation (STROBE-MR): explanation and elaboration.加强流行病学中基于孟德尔随机化的观察性研究报告 (STROBE-MR): 解释和详述。
BMJ. 2021 Oct 26;375:n2233. doi: 10.1136/bmj.n2233.
7
Mendelian randomisation for mediation analysis: current methods and challenges for implementation.孟德尔随机化在中介分析中的应用：当前方法及实施面临的挑战。
Eur J Epidemiol. 2021 May;36(5):465-478. doi: 10.1007/s10654-021-00757-1. Epub 2021 May 7.
8
Guidelines for performing Mendelian randomization investigations: update for summer 2023.孟德尔随机化研究实施指南：2023年夏季更新版
Wellcome Open Res. 2023 Aug 4;4:186. doi: 10.12688/wellcomeopenres.15555.3. eCollection 2019.
9
Genome-wide association study of corneal biomechanical properties identifies over 200 loci providing insight into the genetic etiology of ocular diseases.全基因组关联研究揭示了 200 多个与角膜生物力学特性相关的位点，为眼部疾病的遗传病因提供了新的见解。
Hum Mol Genet. 2020 Nov 4;29(18):3154-3164. doi: 10.1093/hmg/ddaa155.
10
A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness.一项针对 44039 人的多民族全基因组分析确定了 41 个与中央角膜厚度相关的新位点。
Commun Biol. 2020 Jun 11;3(1):301. doi: 10.1038/s42003-020-1037-7.