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Association between polygenic risk score and risk of myopia

JAMA Ophthalmology Nov 08, 2019

Mojarrad NG, Plotnikov D, Williams C, et al. - Researchers investigated if the recognition of children at risk of myopia development could be enabled by genetic information alone, and if improved genetic prediction of the risk of myopia could be achieved by incorporating a child’s genetic predisposition to educational attainment. They undertook this meta-analysis of 3 genome-wide association studies, involving 711,984 individuals, to assess a polygenic risk score in an independent validation sample of 1,516 participants. For predicting myopia and high myopia, the area under the receiver operating characteristics curve was 0.67 and 0.73, respectively; a 6.0-fold higher risk of high myopia was observed in people with polygenic risk scores in the top 10%. Findings are suggestive of the possible feasibility of a personalized medicine approach for identifying very young children at risk of myopia. However, further enhancement in the accuracy is necessary to justify uptake in clinical practice; currently, cycloplegic autorefraction continues to serve as a better indicator of myopia risk.
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