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How Genome-Wide Association Studies Transform Care for Patients at Risk of Glaucoma.

作者信息

Zebardast Nazlee, Wiggs Janey L

机构信息

Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA 02114, USA.

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.

出版信息

Expert Rev Ophthalmol. 2024;19(4):243-246. doi: 10.1080/17469899.2024.2365736. Epub 2024 Jun 19.

DOI:10.1080/17469899.2024.2365736
PMID:39464630
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11507518/
Abstract
摘要

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JAMA Ophthalmol. 2024 Apr 1;142(4):356-363. doi: 10.1001/jamaophthalmol.2024.0151.
2
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations.选择、优化和验证十种用于美国不同人群临床应用的慢性病多基因风险评分。
Nat Med. 2024 Feb;30(2):480-487. doi: 10.1038/s41591-024-02796-z. Epub 2024 Feb 19.
3
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.
4
Deep Ocular Phenotyping Across Primary Open-Angle Glaucoma Genetic Burden.深度眼部表型分析原发性开角型青光眼遗传负担。
JAMA Ophthalmol. 2023 Sep 1;141(9):891-899. doi: 10.1001/jamaophthalmol.2023.3645.
5
Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci.大规模多性状全基因组关联分析鉴定出数百个青光眼风险位点。
Nat Genet. 2023 Jul;55(7):1116-1125. doi: 10.1038/s41588-023-01428-5. Epub 2023 Jun 29.
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Association of High Polygenic Risk With Visual Field Worsening Despite Treatment in Early Primary Open-Angle Glaucoma.高多基因风险与早期原发性开角型青光眼治疗后视野恶化的关联
JAMA Ophthalmol. 2022 Nov 10;141(1):73-7. doi: 10.1001/jamaophthalmol.2022.4688.
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Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps.临床中多基因风险评分的合理使用：潜在的获益、风险和差距。
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