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

• Main Author: Lança, Carla
• Publication Date: 2021
• Other Authors: Kassam, Irfahan, Patasova, Karina, Foo, Li-Lian, Li, Jonathan, Ang, Marcus, Hoang, Quan V., Teo, Yik-Ying, Hysi, Pirro G., Saw, Seang-Mei
• Format: Article
• Language: eng
• Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
• Download full: http://hdl.handle.net/10400.21/13585
• topic: High myopia; Polygenic risk score; Children; Teenager; East Asian

Purpose: 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.