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New polygenic risk score to predict high myopia in Singapore Chinese children

2021-07Journal article Open access
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dc.contributor.authorLança, Carla
dc.contributor.authorKassam, Irfahan
dc.contributor.authorPatasova, Karina
dc.contributor.authorFoo, Li-Lian
dc.contributor.authorLi, Jonathan
dc.contributor.authorAng, Marcus
dc.contributor.authorHoang, Quan V.
dc.contributor.authorTeo, Yik-Ying
dc.contributor.authorHysi, Pirro G.
dc.contributor.authorSaw, Seang-Mei
dc.date.accessioned2021-07-30T08:24:15Z
dc.date.available2021-07-30T08:24:15Z
dc.date.issued2021-07
dc.descriptionNational Medical Research Council Individual Research Grant (NMRC/0975/2005)pt_PT
dc.description.abstractPurpose: The purpose of this study was to develop an Asian polygenic risk score (PRS) to predict high myopia (HM) in Chinese children in the Singapore Cohort of Risk factors for Myopia (SCORM) cohort. Methods: We included children followed from 6 to 11 years old until teenage years (12–18 years old). Cycloplegic autorefraction, ultrasound biometry, Illumina HumanHap 550, or 550 Duo Beadarrays, demographics, and environmental factors data were obtained. The PRS was generated from the Consortium for Refractive Error and Myopia genomewide association study (n = 542,934) and the Strabismus, Amblyopia, and Refractive Error in Singapore children Study (n = 500). The Growing Up in Singapore Towards healthy Outcomes Cohort study (n = 339) was the replication cohort. The outcome was teenage HM (≤ −5.00 D) with predictive performance assessed using the area under the curve (AUC). Results: Mean baseline age ± SD was 7.85 ± 0.84 (n = 1004) and 571 attended the teenage visit; 23.3% had HM. In multivariate analysis, the PRS was associated with a myopic spherical equivalent with an incremental R2 of 0.041 (95% confidence interval [CI] = 0.010, 0.073; P < 0.001). AUC for HM (0.77 [95% CI = 0.71–0.83]) performed better (P = 0.02) with the PRS compared with a model without (0.72 [95% CI = 0.65, 0.78]). Children at the top 25% PRS risk had a 2.34-fold-greater risk of HM (95% CI = 1.53, 3.55; P < 0.001). Conclusions: The new Asian PRS improved the predictive performance to detect children at risk of HM.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationLança C, Kassam I, Patasova K, Foo LL, Li J, Ang M, et al. New polygenic risk score to predict high myopia in Singapore Chinese children. Transl Vis Sci Technol. 2021;10(8):26.pt_PT
dc.identifier.doi10.1167/tvst.10.8.26pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.21/13585
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherARVOpt_PT
dc.relationNational Medical Research Council Individual Research Grant (NMRC/0975/2005)pt_PT
dc.relation.publisherversionhttps://tvst.arvojournals.org/article.aspx?articleid=2776524pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/4.0/pt_PT
dc.subjectHigh myopiapt_PT
dc.subjectPolygenic risk scorept_PT
dc.subjectChildrenpt_PT
dc.subjectTeenagerpt_PT
dc.subjectEast Asianpt_PT
dc.titleNew polygenic risk score to predict high myopia in Singapore Chinese childrenpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue8pt_PT
oaire.citation.startPage26pt_PT
oaire.citation.titleTranslational Vision Science & Technologypt_PT
oaire.citation.volume10pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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