Association between gene polymorphisms and glaucoma susceptibility among Africans: a systematic review and meta-analysis.

IF 1.2 4区 医学 Q4 GENETICS & HEREDITY Ophthalmic Genetics Pub Date : 2025-01-05 DOI:10.1080/13816810.2024.2447501
Randy Asiamah, Samuel Kyei, Paul Owusu, Keren Koomson, Prince Arthur
{"title":"Association between gene polymorphisms and glaucoma susceptibility among Africans: a systematic review and meta-analysis.","authors":"Randy Asiamah, Samuel Kyei, Paul Owusu, Keren Koomson, Prince Arthur","doi":"10.1080/13816810.2024.2447501","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>This study sought to analyze the effect of allele mutations and gene functions specific to glaucoma susceptibility among Africans.</p><p><strong>Methods: </strong>Potentially relevant studies were retrieved from major bibliographic databases (PubMed, Scopus, and Web of Science). Data were extracted and study-specific estimates were meta-analyzed using various models to obtain pooled results.</p><p><strong>Results: </strong>A total of 11 studies were included in the study. The studies included a total of 3,191 cases with glaucoma and 3,013 controls across all variants. There is no association between the E396E variants of the myocilin (MYOC) gene and an increased likelihood of susceptibility to POAG (OR: 0.91 [95% CI 0.42 to 1.97]). The R141L variant of the Lysyl Oxidase Like 1 (LOXL1) gene is associated with an approximately 3-fold increased likelihood of susceptibility to exfoliative syndrome/exfoliative glaucoma (XFS/XFG) (OR: 2.68 [95% CI 0.04 to 198.94]). There is no association between the G153D variant of the LOXL1 gene and an increased likelihood of susceptibility to XFS/XFG (OR: 0.42 [95% CI 0.02 to 7.65]). The rs59892895*C variant of the Amyloid Beta Precursor Protein Binding Family B Member 2 (APBB2) is associated with a 34% increased likelihood of susceptibility to POAG (OR: 1.34 [95% CI 1.13 to 1.58]).</p><p><strong>Conclusion: </strong>Although progress has been made in understanding the genetic basis of the pathogenesis of glaucoma, several gene mutations related to glaucoma pathogenesis in Africans are yet to be discovered, especially those associated with the pathogenesis of POAG, the most prevalent glaucoma subtype in Africa.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-12"},"PeriodicalIF":1.2000,"publicationDate":"2025-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ophthalmic Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/13816810.2024.2447501","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0

Abstract

Purpose: This study sought to analyze the effect of allele mutations and gene functions specific to glaucoma susceptibility among Africans.

Methods: Potentially relevant studies were retrieved from major bibliographic databases (PubMed, Scopus, and Web of Science). Data were extracted and study-specific estimates were meta-analyzed using various models to obtain pooled results.

Results: A total of 11 studies were included in the study. The studies included a total of 3,191 cases with glaucoma and 3,013 controls across all variants. There is no association between the E396E variants of the myocilin (MYOC) gene and an increased likelihood of susceptibility to POAG (OR: 0.91 [95% CI 0.42 to 1.97]). The R141L variant of the Lysyl Oxidase Like 1 (LOXL1) gene is associated with an approximately 3-fold increased likelihood of susceptibility to exfoliative syndrome/exfoliative glaucoma (XFS/XFG) (OR: 2.68 [95% CI 0.04 to 198.94]). There is no association between the G153D variant of the LOXL1 gene and an increased likelihood of susceptibility to XFS/XFG (OR: 0.42 [95% CI 0.02 to 7.65]). The rs59892895*C variant of the Amyloid Beta Precursor Protein Binding Family B Member 2 (APBB2) is associated with a 34% increased likelihood of susceptibility to POAG (OR: 1.34 [95% CI 1.13 to 1.58]).

Conclusion: Although progress has been made in understanding the genetic basis of the pathogenesis of glaucoma, several gene mutations related to glaucoma pathogenesis in Africans are yet to be discovered, especially those associated with the pathogenesis of POAG, the most prevalent glaucoma subtype in Africa.

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
基因多态性与非洲人青光眼易感性之间的关系:系统综述和荟萃分析。
目的:本研究旨在分析等位基因突变和基因功能对非洲人青光眼易感性的影响:从主要文献数据库(PubMed、Scopus 和 Web of Science)中检索可能相关的研究。提取数据并使用各种模型对特定研究的估计值进行元分析,以获得汇总结果:研究共纳入了 11 项研究。这些研究共纳入了 3,191 例青光眼病例和 3,013 例对照,涉及所有变异。肌动蛋白(MYOC)基因的 E396E 变体与 POAG 易感性增加之间没有关联(OR:0.91 [95% CI 0.42 至 1.97])。赖氨酰氧化酶样 1(LOXL1)基因的 R141L 变异与剥脱性综合征/剥脱性青光眼(XFS/XFG)易感性增加约 3 倍有关(OR:2.68 [95% CI 0.04 至 198.94])。LOXL1 基因的 G153D 变异与 XFS/XFG 易感性增加之间没有关联(OR:0.42 [95% CI 0.02 至 7.65])。淀粉样β前体蛋白结合家族 B 成员 2 (APBB2) 的 rs59892895*C 变异与 POAG 易感性增加 34% 相关(OR:1.34 [95% CI 1.13 至 1.58]):尽管在了解青光眼发病机制的遗传基础方面取得了进展,但与非洲人青光眼发病机制有关的一些基因突变仍有待发现,尤其是与非洲最常见的青光眼亚型 POAG 的发病机制有关的基因突变。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
Ophthalmic Genetics
Ophthalmic Genetics 医学-眼科学
CiteScore
2.40
自引率
8.30%
发文量
126
审稿时长
>12 weeks
期刊介绍: Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.
期刊最新文献
Family and genetic counseling in Leber hereditary optic neuropathy. Machine learning demonstrates clinical utility in distinguishing retinoblastoma from pseudo retinoblastoma with RetCam images. A novel frameshift variant in the GJA1 gene is associated with recessive oculodentodigital dysplasia. Antioxidant MitoQ increases viability of human corneal endothelial cells with congenital hereditary endothelial dystrophy-associated SLC4A11 mutations. Inferior sectoral chorioretinopathy in two patients with novel heterozygous KIF11 mutations.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1