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定量评估 ABCA1 基因多态性与青光眼风险的关联,荟萃分析证据。

Quantitative assessment of the associations between ABCA1 gene polymorphism and glaucoma risk, evidence from a meta-analysis.

机构信息

Department of Ophthalmology, Chong Gang General Hospital, Chongqing, China.

出版信息

Medicine (Baltimore). 2024 Nov 29;103(48):e40427. doi: 10.1097/MD.0000000000040427.

DOI:10.1097/MD.0000000000040427
PMID:39612451
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11608731/
Abstract

BACKGROUND

The association between polymorphisms in the ATP-binding cassette transporter A1 (ABCA1) gene and the risk of developing glaucoma has yielded conflicting results across various studies. This meta-analysis aims to comprehensively assess whether genetic variations in ABCA1 significantly contribute to the susceptibility to glaucoma.

METHODS

An extensive search was conducted across major databases, including PubMed, EMBASE, and the China National Knowledge Infrastructure (CNKI), covering all publications from the inception of each database through December 2023. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to quantify the strength of the association between ABCA1 polymorphisms and glaucoma risk.

RESULTS

A significant association was observed between ABCA1 gene polymorphisms and glaucoma risk in the overall analysis, as demonstrated by allele contrast (P < .001), homozygote comparison (P < .001), heterozygote comparison (P < .001), recessive genetic model (P = .017), and dominant genetic model (P < .001). Notably, these associations were particularly pronounced in the Asian population, with all models showing statistical significance (P < .05). However, no significant association was detected in Caucasian or mixed populations, suggesting a potential ethnic specificity in the genetic susceptibility to glaucoma conferred by ABCA1 polymorphisms.

CONCLUSIONS

Our findings indicate that ABCA1 polymorphisms may play a role in increasing the risk of glaucoma, specifically within Asian populations. This contrast highlights the importance of considering ethnic background in genetic association studies.

摘要

背景

ATP 结合盒转运蛋白 A1(ABCA1)基因多态性与青光眼发病风险之间的关联在不同研究中存在矛盾的结果。本荟萃分析旨在全面评估 ABCA1 基因中的遗传变异是否显著增加青光眼的易感性。

方法

我们在主要数据库(包括 PubMed、EMBASE 和中国国家知识基础设施(CNKI))中进行了广泛的搜索,涵盖了每个数据库从创建到 2023 年 12 月的所有出版物。使用优势比(OR)和 95%置信区间(CI)来量化 ABCA1 多态性与青光眼风险之间的关联强度。

结果

总体分析显示,ABCA1 基因多态性与青光眼风险之间存在显著关联,等位基因对比(P <.001)、纯合子比较(P <.001)、杂合子比较(P <.001)、隐性遗传模型(P =.017)和显性遗传模型(P <.001)均如此。值得注意的是,这些关联在亚洲人群中尤为显著,所有模型均具有统计学意义(P <.05)。然而,在白人和混合人群中未检测到显著关联,提示 ABCA1 多态性与青光眼遗传易感性存在潜在的种族特异性。

结论

我们的研究结果表明,ABCA1 多态性可能在增加青光眼风险方面发挥作用,特别是在亚洲人群中。这种对比强调了在遗传关联研究中考虑种族背景的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d0e/11608731/de4b96013fb5/medi-103-e40427-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d0e/11608731/8ac8eae00019/medi-103-e40427-g001.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d0e/11608731/00293ec2d695/medi-103-e40427-g003.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d0e/11608731/17df1947f457/medi-103-e40427-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d0e/11608731/de4b96013fb5/medi-103-e40427-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d0e/11608731/8ac8eae00019/medi-103-e40427-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d0e/11608731/4f25af84a7d0/medi-103-e40427-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d0e/11608731/00293ec2d695/medi-103-e40427-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d0e/11608731/65ff93c2845e/medi-103-e40427-g004.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d0e/11608731/de4b96013fb5/medi-103-e40427-g006.jpg

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