Suppr超能文献

揭示关联:帕金森病是青光眼的致病因素吗?孟德尔随机化研究的见解。

Unraveling the link: Is Parkinson's disease a causal factor for glaucoma? Insights from Mendelian randomization.

作者信息

Bin Lin M M, Long-Long Chen M M, Mei-Yi Zhu M M, Dong-Kan Li M D

机构信息

Xiamen Eye Center and Eye Institute of Xiamen University, School of Medicine, Xiamen, China.

Xiamen Clinical Research Center for Eye Diseases, Xiamen, Fujian, China.

出版信息

Sci Prog. 2025 Jul-Sep;108(3):368504251377961. doi: 10.1177/00368504251377961. Epub 2025 Sep 9.

Abstract

BackgroundGlaucoma is recognized as the second-leading cause of complete blindness in developed countries and a significant contributor to irreversible vision loss worldwide. Understanding the potential genetic links between neurodegenerative diseases, such as Parkinson's disease, and glaucoma is crucial for developing preventive strategies.MethodsThis study utilized data from Genome-Wide Association Studies databases, focusing on European populations without gender restrictions. Single nucleotide polymorphisms (SNPs) were selected as instrumental variables based on criteria ensuring no direct association with outcomes and independence from confounding factors. Mendelian randomization analyses were conducted to assess the relationship between SNP effect sizes for Parkinson's disease and the risk of developing glaucoma. Finally, detailed information on high-risk SNP loci was queried and compared in the Ensembl gene database to further explore the relationship between the two diseases.ResultsThe analysis revealed that for every one standard deviation increase in the SNP effect size for Parkinson's disease, the risk of developing glaucoma increased by 0.3% to 11.9%. Pleiotropy testing indicated a -value of 0.464, suggesting that genetic pleiotropy is unlikely to affect the results. Sensitivity analyses confirmed the stability of the findings. A notable observation is the proximity between the loci of both diseases on chromosome 7. However, this positional overlap alone, without functional validation, does not confirm biological relevance.ConclusionThe study provides suggestive evidence of a potential causal relationship, suggesting that genetic factors associated with Parkinson's disease may potentially contribute to an increased risk of glaucoma. These findings tentatively highlight the need to consider neurodegeneration-related mechanisms in glaucoma management and prevention, though further validation is required.

摘要

背景

青光眼被认为是发达国家完全失明的第二大主要原因,也是全球不可逆视力丧失的重要因素。了解神经退行性疾病(如帕金森病)与青光眼之间潜在的遗传联系对于制定预防策略至关重要。

方法

本研究利用全基因组关联研究数据库的数据,重点关注无性别限制的欧洲人群。单核苷酸多态性(SNP)根据确保与结果无直接关联且不受混杂因素影响的标准被选作工具变量。进行孟德尔随机化分析以评估帕金森病的SNP效应大小与患青光眼风险之间的关系。最后,在Ensembl基因数据库中查询并比较高危SNP位点的详细信息,以进一步探索这两种疾病之间的关系。

结果

分析显示,帕金森病的SNP效应大小每增加一个标准差,患青光眼的风险就增加0.3%至11.9%。多效性检验显示P值为0.464,表明基因多效性不太可能影响结果。敏感性分析证实了研究结果的稳定性。一个值得注意的观察结果是两种疾病在7号染色体上的位点接近。然而,仅这种位置重叠,未经功能验证,不能确认其生物学相关性。

结论

该研究提供了潜在因果关系的提示性证据,表明与帕金森病相关的遗传因素可能会增加患青光眼的风险。这些发现初步凸显了在青光眼管理和预防中考虑神经退行性变相关机制的必要性,不过还需要进一步验证。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f07c/12421027/9bb15a873962/10.1177_00368504251377961-fig1.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验