Annual Review of Genomics and Human Genetics Polygenic Risk Scores Driving Clinical Change in Glaucoma

被引：4

作者：

Kolovos, Antonia ^{[1
]}

Hassall, Mark M. ^{[1
]}

Siggs, Owen M. ^{[1
,2
]}

Souzeau, Emmanuelle ^{[1
]}

Craig, Jamie E. ^{[1
]}

机构：

[1] Flinders Univ S Australia, Flinders Hlth & Med Res Inst, Dept Ophthalmol, Adelaide, SA, Australia

[2] Garvan Inst Med Res, Darlinghurst, NSW, Australia

来源：

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS | 2024年 / 25卷

基金：

英国医学研究理事会;

关键词：

glaucoma; polygenic risk score; polygenic score; POAG; PRS; PGS; OPEN-ANGLE GLAUCOMA; OCULAR HYPERTENSION TREATMENT; REPORTED FAMILY-HISTORY; WIDE ASSOCIATION; INTRAOCULAR-PRESSURE; COMMON VARIANTS; MITOCHONDRIAL DYSFUNCTION; SUSCEPTIBILITY LOCI; MYOCILIN MUTATIONS; PREVALENCE;

D O I：

10.1146/annurev-genom-121222-105817

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Glaucoma is a clinically heterogeneous disease and the world's leading cause of irreversible blindness. Therapeutic intervention can prevent blindness but relies on early diagnosis, and current clinical risk factors are limited in their ability to predict who will develop sight-threatening glaucoma. The high heritability of glaucoma makes it an ideal substrate for genetic risk prediction, with the bulk of risk being polygenic in nature. Here, we summarize the foundations of glaucoma genetic risk, the development of polygenic risk prediction instruments, and emerging opportunities for genetic risk stratification. Although challenges remain, genetic risk stratification will significantly improve glaucoma screening and management.

引用

页码：287 / 308

页数：22

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