Advanced search
Publication Cover
Expert Review of Ophthalmology Latest Articles
Submit an article Journal homepage
75
Views
0
CrossRef citations to date
0
Altmetric
Editorial

How genome-wide association studies transform care for patients at risk of glaucoma

Nazlee Zebardasta Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA;b Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USAView further author information
&
Janey L. Wiggsa Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA;b Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USACorrespondence[email protected]
View further author information
Received 01 Feb 2024, Accepted 05 Jun 2024, Published online: 19 Jun 2024

References

  • Wang K, Gaitsch H, Poon H, et al. Classification of common human diseases derived from shared genetic and environmental determinants. Nat Genet. 2017;49(9):1319–1325. doi: 10.1038/ng.3931
  • Nakano M, Ikeda Y, Taniguchi T, et al. Three susceptible loci associated with primary open-angle glaucoma identified by genome-wide association study in a Japanese population. Proc Natl Acad Sci USA. 2009;106(31):12838–12842. doi: 10.1073/pnas.0906397106
  • Han X, Gharahkhani P, Hamel AR, et al. Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci. Nat Genet. 2023;55(7):1116–1125. doi: 10.1038/s41588-023-01428-5
  • Mak TSH, Porsch RM, Choi SW, et al. Polygenic scores via penalized regression on summary statistics. Genet Epidemiol. 2017;41(6):469–480. doi: 10.1002/gepi.22050
  • Ge T, Chen C-Y, Ni Y, et al. Polygenic prediction via Bayesian regression and continuous shrinkage priors. Nat Commun. 2019;10(1):1776. doi: 10.1038/s41467-019-09718-5
  • Privé F, Arbel J, Vilhjálmsson BJ, et al. LDpred2: better, faster, stronger. Bioinforma Oxf Engl. 2021;36(22–23):5424–5431. doi: 10.1093/bioinformatics/btaa1029
  • Moser G, Lee SH, Hayes BJ, et al. Simultaneous discovery, estimation and prediction analysis of complex traits using a bayesian mixture model. PLOS Genet. 2015;11(4):e1004969. doi: 10.1371/journal.pgen.1004969
  • Zhou X, Carbonetto P, Stephens M, et al. Polygenic modeling with bayesian sparse linear mixed models. PLOS Genet. 2013;9(2):e1003264. doi: 10.1371/journal.pgen.1003264
  • Sekimitsu S, Xiang D, Smith SL, et al. Deep ocular phenotyping across primary open-angle glaucoma genetic burden. JAMA Ophthalmol. 2023;141(9):891–899. doi: 10.1001/jamaophthalmol.2023.3645
  • Fan BJ, Bailey JC, Igo RP, et al. Association of a primary open-angle glaucoma genetic risk score with earlier age at diagnosis. JAMA Ophthalmol. 2019;137(10):1190–1194. doi: 10.1001/jamaophthalmol.2019.3109
  • Craig JE, Han X, Qassim A, et al. Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression. Nat Genet. 2020;52(2):160–166. doi: 10.1038/s41588-019-0556-y
  • Singh RK, Zhao Y, Elze T, et al. Polygenic risk score improves prediction of primary open angle glaucoma onset in the ocular hypertension treatment study. JAMA Ophthalmol. 2024 Mar 14;Online ahead of print:e240151. doi: 10.1001/jamaophthalmol.2024.0151
  • Siggs OM, Qassim A, Han X, et al. Association of high polygenic risk with visual field worsening despite treatment in early primary open-angle glaucoma. JAMA Ophthalmol. 2022;141(1):73–77. doi: 10.1001/jamaophthalmol.2022.4688
  • Inouye M, Abraham G, Nelson CP, et al. Genomic risk prediction of coronary artery disease in 480,000 adults: implications for primary prevention. J Am Coll Cardiol. 2018;72(16):1883–1893. doi: 10.1016/j.jacc.2018.07.079
  • Udler MS, McCarthy MI, Florez JC, et al. Genetic risk scores for diabetes diagnosis and precision medicine. Endocr Rev. 2019;40(6):1500–1520. doi: 10.1210/er.2019-00088
  • Natarajan P, Young R, Stitziel NO, et al. Polygenic risk score identifies subgroup with higher burden of atherosclerosis and greater relative benefit from statin therapy in the primary prevention setting. Circulation. 2017;135(22):2091–2101. doi: 10.1161/CIRCULATIONAHA.116.024436
  • Mavaddat N, Michailidou K, Dennis J, et al. Polygenic risk scores for prediction of breast cancer and breast cancer subtypes. Am J Hum Genet. 2019;104(1):21–34. doi: 10.1016/j.ajhg.2018.11.002
  • Quigley HA, Cassard SD, Gower EW, et al. The cost of glaucoma care provided to medicare beneficiaries from 2002 to 2009. Ophthalmology. 2013;120(11):2249–2257. doi: 10.1016/j.ophtha.2013.04.027
  • Saunders CL, Kilian B, Thompson DJ, et al. External validation of risk prediction models incorporating common genetic variants for incident colorectal cancer using UK Biobank. Cancer Prev Res Phila Pa. 2020;13(6):509–520. doi: 10.1158/1940-6207.CAPR-19-0521
  • Lennon N, Kottyan LC, Kachulis C, et al. Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. Nature Med. 2024;30(2):480–487. doi: 10.1038/s41591-024-02796-z
  • Adeyemo A, Balaconis MK, Darnes DR, et al. Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps. Nat Med. 2021;27(11):1876–1884. doi: 10.1038/s41591-021-01549-6
  • Verma S, Gudiseva HV, Chavali VRM, et al. A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma. Cell. 2024;187(2):464–480.e10. doi: 10.1016/j.cell.2023.12.006

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.