• 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

与非洲裔个体青光眼风险相关的常见串联重复变异体。

Common tandem repeat variants associated with glaucoma risk in individuals of African ancestry.

作者信息

Pham Kenneth, Lee Roy, Rosa Isabel Di, Salowe Rebecca, Jin Fangming, Bradford Yuki, Ying Gui-Shuang, Phillips-Cremins Jennifer E, Setia-Verma Shefali, O'Brien Joan

机构信息

Penn Medicine Center for Genetics of Complex Disease, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA.

Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA.

出版信息

medRxiv. 2025 Feb 21:2025.02.19.25322489. doi: 10.1101/2025.02.19.25322489.

DOI:10.1101/2025.02.19.25322489
PMID:40034796
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11875260/
Abstract

The contribution of common tandem repeats (TR) variants to common, complex disease remains unknown, especially in populations historically underrepresented in genetic research. We identified common TR variants associated with risk of primary open-angle glaucoma (POAG) in individuals of African ancestry. The POAG-associated TR variants were predominantly found at Alu poly(A) tail elements, regions, retinal development enhancers, and harbor binding sites of a POAG-associated transcription factor, LMX1B, suggesting a convergent mechanism of how common TR variation arises and contributes to POAG pathophysiology.

摘要

常见串联重复序列（TR）变异对常见复杂疾病的影响尚不清楚，尤其是在遗传研究中历史代表性不足的人群中。我们在非洲裔个体中鉴定出与原发性开角型青光眼（POAG）风险相关的常见TR变异。与POAG相关的TR变异主要存在于Alu poly(A)尾元件、区域、视网膜发育增强子中，并含有POAG相关转录因子LMX1B的结合位点，这提示了常见TR变异产生并导致POAG病理生理的一种趋同机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e14/11875260/4b8efe2018df/nihpp-2025.02.19.25322489v1-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e14/11875260/639e58098c5d/nihpp-2025.02.19.25322489v1-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e14/11875260/4b8efe2018df/nihpp-2025.02.19.25322489v1-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e14/11875260/639e58098c5d/nihpp-2025.02.19.25322489v1-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e14/11875260/4b8efe2018df/nihpp-2025.02.19.25322489v1-f0002.jpg

相似文献

1
Common tandem repeat variants associated with glaucoma risk in individuals of African ancestry.与非洲裔个体青光眼风险相关的常见串联重复变异体。
medRxiv. 2025 Feb 21:2025.02.19.25322489. doi: 10.1101/2025.02.19.25322489.
2
Local genetic ancestry in CDKN2B-AS1 is associated with primary open-angle glaucoma in an African American cohort extracted from de-identified electronic health records.从去识别电子健康记录中提取的非裔美国人队列中，CDKN2B-AS1 中的局部遗传祖源与原发性开角型青光眼相关。
BMC Med Genomics. 2018 Sep 14;11(Suppl 3):70. doi: 10.1186/s12920-018-0392-4.
3
The Role of Genetic Ancestry as a Risk Factor for Primary Open-angle Glaucoma in African Americans.遗传背景作为非裔美国人原发性开角型青光眼的风险因素的作用。
Invest Ophthalmol Vis Sci. 2021 Feb 1;62(2):28. doi: 10.1167/iovs.62.2.28.
4
A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma.一项在非裔个体中进行的多队列全基因组关联研究揭示了原发性开角型青光眼的风险位点。
Cell. 2024 Jan 18;187(2):464-480.e10. doi: 10.1016/j.cell.2023.12.006.
5
Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment.原发性开角型青光眼遗传学的当前概念：对疾病病理生理学和未来治疗的贡献。
Eye (Lond). 2012 Mar;26(3):355-69. doi: 10.1038/eye.2011.309. Epub 2011 Dec 16.
6
Glaucoma Genetic Risk Scores in the Million Veteran Program.百万退伍军人计划中的青光眼遗传风险评分。
Ophthalmology. 2022 Nov;129(11):1263-1274. doi: 10.1016/j.ophtha.2022.06.012. Epub 2022 Jun 17.
7
Performance of Polygenic Risk Scores for Primary Open-Angle Glaucoma in Populations of African Descent.非洲裔人群中原发性开角型青光眼多基因风险评分的表现
JAMA Ophthalmol. 2025 Jan 1;143(1):7-14. doi: 10.1001/jamaophthalmol.2024.4784.
8
Socioeconomic and environmental factors associated with glaucoma in an African Ancestry Population: findings from the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study.非洲裔人群中与青光眼相关的社会经济和环境因素：原发性开角型非裔美国人青光眼遗传学（POAAGG）研究的结果
Eye (Lond). 2025 Apr;39(6):1086-1092. doi: 10.1038/s41433-024-03470-x. Epub 2024 Dec 11.
9
Genetic Architecture of Primary Open-Angle Glaucoma in Individuals of African Descent: The African Descent and Glaucoma Evaluation Study III.非裔原发性开角型青光眼的遗传结构：非裔与青光眼评估研究 III。
Ophthalmology. 2019 Jan;126(1):38-48. doi: 10.1016/j.ophtha.2018.10.031. Epub 2018 Oct 21.
10
Paving the way while playing catch up: mitochondrial genetics in African ancestry primary open-angle glaucoma.在追赶的同时铺平道路：非洲裔原发性开角型青光眼中的线粒体遗传学
Front Ophthalmol (Lausanne). 2023 Oct 12;3:1267119. doi: 10.3389/fopht.2023.1267119. eCollection 2023.

本文引用的文献

1
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.多样性与规模：退伍军人事务部百万退伍军人计划中2068个性状的遗传结构
Science. 2024 Jul 19;385(6706):eadj1182. doi: 10.1126/science.adj1182.
2
Single-cell epigenomic reconstruction of developmental trajectories from pluripotency in human neural organoid systems.从人类神经类器官系统的多能性出发，对单细胞表观基因组进行发育轨迹重建。
Nat Neurosci. 2024 Jul;27(7):1376-1386. doi: 10.1038/s41593-024-01652-0. Epub 2024 Jun 24.
3
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179.
15q 染色体上的 STR 突变通过激活灵长类特有的 MIR7-2/MIR1179 增强子导致促甲状腺素抵抗。
Nat Genet. 2024 May;56(5):877-888. doi: 10.1038/s41588-024-01717-7. Epub 2024 May 7.
4
Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities.15q26.1 上的 TTTG 微卫星中的功能变体导致家族性非自身免疫性甲状腺异常。
Nat Genet. 2024 May;56(5):869-876. doi: 10.1038/s41588-024-01735-5. Epub 2024 May 7.
5
Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation.新型种族特异性原发性开角型青光眼基因座与血管机制和细胞增殖的共享生物学。
Cell Rep Med. 2024 Feb 20;5(2):101430. doi: 10.1016/j.xcrm.2024.101430.
6
A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma.一项在非裔个体中进行的多队列全基因组关联研究揭示了原发性开角型青光眼的风险位点。
Cell. 2024 Jan 18;187(2):464-480.e10. doi: 10.1016/j.cell.2023.12.006.
7
HOCOMOCO in 2024: a rebuild of the curated collection of binding models for human and mouse transcription factors.2024 年的 HOCOMOCO：人类和小鼠转录因子结合模型的精选集合的重建。
Nucleic Acids Res. 2024 Jan 5;52(D1):D154-D163. doi: 10.1093/nar/gkad1077.
8
JASPAR 2024: 20th anniversary of the open-access database of transcription factor binding profiles.JASPAR 2024：转录因子结合谱开放获取数据库的 20 周年纪念
Nucleic Acids Res. 2024 Jan 5;52(D1):D174-D182. doi: 10.1093/nar/gkad1059.
9
A deep population reference panel of tandem repeat variation.串联重复变异的深度人群参考面板。
Nat Commun. 2023 Oct 23;14(1):6711. doi: 10.1038/s41467-023-42278-3.
10
Short tandem repeats bind transcription factors to tune eukaryotic gene expression.短串联重复序列结合转录因子来调节真核生物基因表达。
Science. 2023 Sep 22;381(6664):eadd1250. doi: 10.1126/science.add1250.