The Potential of Current Polygenic Risk Scores to Predict High Myopia and Myopic Macular Degeneration in Multiethnic Singapore Adults

Kassam, Irfahan; Foo, Li-Lian; Lança, Carla Costa; Xu, Lingqian; Hoang, Quan V.; Cheng, Ching-Yu; Hysi, Pirro G.; Saw, Seang‐Mei

doi:10.1016/j.ophtha.2022.03.022

Cited by 10 publications

(15 citation statements)

References 69 publications

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“…We found that a longer AL at baseline in childhood and greater axial elongation during treatment over the clinical trial period were associated with a higher incidence of early MMD in our adult participants. It has to be taken into account, however, that most eyes had grade 1 MMD (ie, fundus tessellation), which has not been considered to be pathological and which can but does not need to progress to pathological grades of MMD . Nonetheless, AL elongation could be an important parameter in assessing the response to atropine treatment during childhood, which could be associated with the risk of MMD development in adulthood.…”

Section: Discussionsupporting

confidence: 92%

“…It has to be taken into account, however, that most eyes had grade 1 MMD (ie, fundus tessellation), which has not been considered to be pathological and which can but does not need to progress to pathological grades of MMD. 22,31 Nonetheless, AL elongation could be an important parameter in assessing the response to atropine treatment during childhood, which could be associated with the risk of MMD development in adulthood. Our observations are consistent with another 19-year follow-up study on myopia progression from childhood to adulthood, as adolescent AL was reported as an important factor in predicting early MMD in young adults.…”

Section: Discussionmentioning

confidence: 99%

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Topical Atropine for Childhood Myopia Control

Li,

Yip,

Ning

et al. 2024

JAMA Ophthalmol

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ImportanceClinical trial results of topical atropine eye drops for childhood myopia control have shown inconsistent outcomes across short-term studies, with little long-term safety or other outcomes reported.ObjectiveTo report the long-term safety and outcomes of topical atropine for childhood myopia control.Design, Setting, and ParticipantsThis prospective, double-masked observational study of the Atropine for the Treatment of Myopia (ATOM) 1 and ATOM2 randomized clinical trials took place at 2 single centers and included adults reviewed in 2021 through 2022 from the ATOM1 study (atropine 1% vs placebo; 1999 through 2003) and the ATOM2 study (atropine 0.01% vs 0.1% vs 0.5%; 2006 through 2012).Main Outcome MeasuresChange in cycloplegic spherical equivalent (SE) with axial length (AL); incidence of ocular complications.ResultsAmong the original 400 participants in each original cohort, the study team evaluated 71 of 400 ATOM1 adult participants (17.8% of original cohort; study age, mean [SD] 30.5 [1.2] years; 40.6% female) and 158 of 400 ATOM2 adult participants (39.5% of original cohort; study age, mean [SD], 24.5 [1.5] years; 42.9% female) whose baseline characteristics (SE and AL) were representative of the original cohort. In this study, evaluating ATOM1 participants, the mean (SD) SE and AL were −5.20 (2.46) diopters (D), 25.87 (1.23) mm and –6.00 (1.63) D, 25.90 (1.21) mm in the 1% atropine-treated and placebo groups, respectively (difference of SE, 0.80 D; 95% CI, −0.25 to 1.85 D; P = .13; difference of AL, −0.03 mm; 95% CI, −0.65 to 0.58 mm; P = .92). In ATOM2 participants, the mean (SD) SE and AL was −6.40 (2.21) D; 26.25 (1.34) mm; −6.81 (1.92) D, 26.28 (0.99) mm; and −7.19 (2.87) D, 26.31 (1.31) mm in the 0.01%, 0.1%, and 0.5% atropine groups, respectively. There was no difference in the 20-year incidence of cataract/lens opacities, myopic macular degeneration, or parapapillary atrophy (β/γ zone) comparing the 1% atropine-treated group vs the placebo group.Conclusions and RelevanceAmong approximately one-quarter of the original participants, use of short-term topical atropine eye drops ranging from 0.01% to 1.0% for a duration of 2 to 4 years during childhood was not associated with differences in final refractive errors 10 to 20 years after treatment. There was no increased incidence of treatment or myopia-related ocular complications in the 1% atropine-treated group vs the placebo group. These findings may affect the design of future clinical trials, as further studies are required to investigate the duration and concentration of atropine for childhood myopia control.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Topical Atropine for Childhood Myopia Control

Li,

Yip,

Ning

et al. 2024

JAMA Ophthalmol

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“…Multiple studies have reported that generalizing White European-derived risk estimates to other ethnicities, such as Black, Asian and Jewish people, caused a significant risk overestimation or poorer median effect sizes [ 19 , 20 ]. In contrast, some studies have reported good portability, for example between European and Asian or Hispanic cohorts [ 19 , 21 , 22 ]. In other words, it is yet not completely clear in which cases a particular PRS can be generalized in a particular population or cohort.…”

Section: Discussionmentioning

confidence: 99%

Portability of Polygenic Risk Scores for Sleep Duration, Insomnia and Chronotype in 33,493 Individuals

et al. 2022

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Polygenic risk scores (PRSs) estimate genetic liability for diseases and traits. However, the portability of PRSs in sleep traits has remained elusive. We generated PRSs for self-reported insomnia, chronotype and sleep duration using summary data from genome-wide association studies (GWASs) performed in 350,000 to 697,000 European-ancestry individuals. We then projected the scores in two independent Finnish population cohorts (N = 33,493) and tested whether the PRSs were associated with their respective sleep traits. We observed that all the generated PRSs were associated with their corresponding traits (p < 0.05 in all cases). Furthermore, we found that there was a 22.2 min difference in reported sleep between the 5% tails of the PRS for sleep duration (p < 0.001). Our findings indicate that sleep-related PRSs show portability across cohorts. The findings also demonstrate that sleep measures using PRSs for sleep behaviors may provide useful instruments for testing disease and trait associations in cohorts where direct sleep parameters have not yet been measured.

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“…Myopia is a major public health concern precipitated by its increasing prevalence worldwide 1–7 and the associated risk of potentially blinding conditions 8–12 . Projections indicate that by the year 2050, over half of the world's population will have myopia, with 10% of those having high myopia 13 .…”

Section: Introductionmentioning

confidence: 99%

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mentioning

confidence: 99%

Baseline metrics that may predict future myopia in young children

Vera-Díaz

Jnawali

Panorgias

et al. 2023

Ophthalmic Physiologic Optic

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Myopia is a major public health concern precipitated by its increasing prevalence worldwide 1-7 and the associated risk of potentially blinding conditions. [8][9][10][11][12] Projections indicate that by the year 2050, over half of the world's population will have myopia, with 10% of those having high myopia. 13 Individuals with myopia, even low to moderate myopia, are at higher risk for a number of ocular pathologies, including myopic maculopathy, glaucoma, retinal detachment and certain types of cataract. 14,15 Furthermore, the increasingly earlier onset of myopia in children with consequent higher progression rates is generating an epidemic of potentially blinding, high myopia. For all these reasons, there is an urgent need to prevent myopia development and its progression.

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The Potential of Current Polygenic Risk Scores to Predict High Myopia and Myopic Macular Degeneration in Multiethnic Singapore Adults

Cited by 10 publications

References 69 publications

Topical Atropine for Childhood Myopia Control

Topical Atropine for Childhood Myopia Control

Portability of Polygenic Risk Scores for Sleep Duration, Insomnia and Chronotype in 33,493 Individuals

Baseline metrics that may predict future myopia in young children

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