Diversity in Polygenic Risk of Primary Open-Angle Glaucoma

被引：14

作者：

Cooke Bailey, Jessica N. N. ^{[1
,2
]}

Funk, Kaitlyn L. L. ^{[1
,2
]}

Cruz, Lauren A. A. ^{[1
,2
]}

Waksmunski, Andrea R. R. ^{[1
,2
]}

Kinzy, Tyler G. G. ^{[1
,2
]}

Wiggs, Janey L. L. ^{[3
]}

Hauser, Michael A. A. ^{[4
]}

机构：

[1] Case Western Reserve Univ, Cleveland Inst Computat Biol, Sch Med, Cleveland, OH 44106 USA

[2] Case Western Reserve Univ, Sch Med, Dept Populat & Quantitat Hlth Sci, Cleveland, OH 44106 USA

[3] Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear, Boston, MA 02115 USA

[4] Duke Univ, Dept Ophthalmol, Durham, NC 27705 USA

来源：

GENES | 2023年 / 14卷 / 01期

基金：

美国国家卫生研究院;

关键词：

glaucoma; polygenic risk score; genetic risk score; diversity; glaucoma genetics; GENOME-WIDE ASSOCIATION; PREVALENCE; SCORES; PREDICTION; RACE;

D O I：

10.3390/genes14010111

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Glaucoma is the leading cause of irreversible blindness worldwide. Primary open-angle glaucoma (POAG), the most common glaucoma subtype, is more prevalent and severe in individuals of African ancestry. Unfortunately, this ancestral group has been historically under-represented among genetic studies of POAG. Moreover, both genetic and polygenic risk scores (GRS, PRS) that are typically based on genetic data from European-descent populations are not transferable to individuals without a majority of European ancestry. Given the aspirations of leveraging genetic information for precision medicine, GRS and PRS demonstrate clinical potential but fall short, in part due to the lack of diversity in these studies. Prioritizing diversity in the discovery of risk variants will improve the performance and utility of GRS and PRS-derived risk estimation for disease stratification, which could bring about earlier POAG intervention and treatment for a disease that often goes undetected until significant damage has occurred.

引用

页数：9

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