A Polygenic Risk Score Predicts Intraocular Pressure Readings Outside Office Hours and Early Morning Spikes as Measured by Home Tonometry

Qassim, Ayub; Mullany, Sean; Awadalla, Mona S; Hassall, Mark; Nguyen, Thi; Marshall, Henry; Kolovos, Antonia; Schulz, Angela; Han, Xikun; Gharahkhani, Puya; Galanopoulos, Anna; Agar, Ashish; Healey, Paul R.; Hewitt, Alex W.; Landers, John; Casson, Robert J.; Graham, Stuart L.; MacGregor, Stuart; Souzeau, Emmanuelle; Siggs, Owen M.; Craig, Jamie E

doi:10.1016/j.ogla.2020.12.002

Cited by 14 publications

(12 citation statements)

References 32 publications

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“…38 We also reported that individuals with a high IOP-associated PRS had a higher early-morning and outside office hours IOP even after adjustment for a clinically measured IOP, whereby individuals in the highest quintile of the PRS were 5.4-fold more likely (95% CI, of OR 1.3-23.6) to have early-morning IOP spikes relative to the lowest quintile. 52 Interestingly, this association was stronger using a PRS exclusive to IOP-associated variants than a more comprehensive glaucoma PRS, suggesting an added benefit of trait-specific PRS in predicting phenotypic variations of a disease. 52 Ultimately, a comprehensive and validated glaucoma PRS may be used to personalize glaucoma monitoring and management in high-risk compared with average-or low-risk individuals.…”

Section: Primary Open Angle Glaucomamentioning

confidence: 99%

“…52 Interestingly, this association was stronger using a PRS exclusive to IOP-associated variants than a more comprehensive glaucoma PRS, suggesting an added benefit of trait-specific PRS in predicting phenotypic variations of a disease. 52 Ultimately, a comprehensive and validated glaucoma PRS may be used to personalize glaucoma monitoring and management in high-risk compared with average-or low-risk individuals.…”

Section: Primary Open Angle Glaucomamentioning

confidence: 99%

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Risk Stratification and Clinical Utility of Polygenic Risk Scores in Ophthalmology

Qassim

Souzeau

Hollitt

et al. 2021

Trans. Vis. Sci. Tech.

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Combining genetic and clinical data into an informative risk prediction profile has been an important ambition of personalized medicine. Single-nucleotide polymorphisms are commonly found throughout the genome and account for the majority of interindividual genetic variation. To date, genome-wide association studies have led to the discovery of thousands of disease-associated loci, including across dozens of ophthalmic diseases and traits. However, compared with the clinical utility of identifying rare Mendelian variants, the translation of these results to clinical practice has so far been limited because such variants are found commonly in the population, and individually account for a very small risk. Recently, combining large numbers of these genetic variants into polygenic risk scores (PRS) has shown clinically meaningful risk prediction across several common diseases. PRS have the potential to translate the discovery of common risk variants into individualized disease risk prediction, prognostication, and may enable targeted treatments. In this context, we review the clinical utility of PRS in three common, genetically complex ophthalmic conditions: primary open angle glaucoma, age-related macular degeneration, and myopia.Translational Relevance: Common genetic variants can be used to effectively stratify the risk of disease development and progression and may be used to guide screening, triaging, monitoring, or treatment thresholds.

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Section: Primary Open Angle Glaucomamentioning

confidence: 99%

Section: Primary Open Angle Glaucomamentioning

confidence: 99%

Risk Stratification and Clinical Utility of Polygenic Risk Scores in Ophthalmology

Qassim

Souzeau

Hollitt

et al. 2021

Trans. Vis. Sci. Tech.

Self Cite

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show abstract

“…An IOP-based PRS has also been found to be associated with higher early morning and mean IOP outside office hours in POAG patients, as measured with the iCare HOME tonometer (n = 239 Australian participants). 127 Compared to the lowest quintile, eyes in the highest PRS quintile had an early morning IOP increase of 4.3 mmHg (95% CI 1.4-7.3, p = 0.005) and a mean increase in IOP outside office hours of 2.7 mmHg (95% CI 0.61-4.7, p = 0.013).…”

Section: Polygenic Risk Scoresmentioning

confidence: 93%

The genetics of glaucoma: Disease associations, personalised risk assessment and therapeutic opportunities‐A review

Aboobakar

Wiggs

2022

Clinical Exper Ophthalmology

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Glaucoma refers to a heterogenous group of disorders characterised by progressive loss of retinal ganglion cells and associated visual field loss. Both early-onset and adult-onset forms of the disease have a strong genetic component. Here, we summarise the known genetic associations for various forms of glaucoma and the possible functional roles for these genes in disease pathogenesis. We also discuss efforts to translate genetic knowledge into clinical practice, including gene-based tests for disease diagnosis and risk-stratification as well as gene-based therapies.

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“…[6] These self-measurements can be performed by the patient daily and thus obtain a more detailed evaluation of the diurnal and daily fluctuations in the IOP. [7–10]…”

Section: Introductionmentioning

confidence: 99%

Frequent self-monitoring of intraocular pressure can determine effectiveness of medications in eyes with normal tension glaucoma: A case report

2022

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Rationale: It is difficult to follow changes in the intraocular pressure (IOP) in glaucomatous eyes comprehensively because of the limited number of outpatient examinations. We report our findings in a case of normal tension glaucoma (NTG) in which frequent self-measurements of the IOP were used to evaluate the IOP-lowering effect of different medications. Patient concerns: A 50-year-old man with NTG had a nasal step visual field defect in his right eye and was being treated with 0.005% latanoprost (LAT) ophthalmic solution (XALATAN ® ). Diagnosis: The patient was diagnosed with NTG. Interventions: The patient had a mean IOP in the right eye of 10.9 ± 1.5 mm Hg (68 measurements in 1 month, Period A) during treatment with 0.005% LAT ophthalmic solution. During the second month (Period B), the mean IOP in the same eye was 9.8 ± 1.7 mm Hg (59 measurements) with treatment with a LAT and carteolol fixed combination (LCFC). And during the third month (Period C), the mean IOP was 7.4 ± 1.1 mm Hg (57 measurements) on the same right eye after the addition of brimonidine and brinzolamide fixed combination ophthalmic solution to the LCFC ophthalmic solution. Outcomes: Comparisons of the IOPs between Periods A and B and between B and C showed that the reductions in the IOP were significant. Conclusion: We conclude that frequent self-measurements of the IOP can determine that small changes of the IOPs are significant.

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A Polygenic Risk Score Predicts Intraocular Pressure Readings Outside Office Hours and Early Morning Spikes as Measured by Home Tonometry

Cited by 14 publications

References 32 publications

Risk Stratification and Clinical Utility of Polygenic Risk Scores in Ophthalmology

Risk Stratification and Clinical Utility of Polygenic Risk Scores in Ophthalmology

The genetics of glaucoma: Disease associations, personalised risk assessment and therapeutic opportunities‐A review

Frequent self-monitoring of intraocular pressure can determine effectiveness of medications in eyes with normal tension glaucoma: A case report

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