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A genetic risk score and number of myopic parents independently predict myopia

Ghorbani Mojarrad, Neema, Williams, C and Guggenheim, Jeremy ORCID: 2018. A genetic risk score and number of myopic parents independently predict myopia. Ophthalmic and Physiological Optics 38 (5) , pp. 492-502. 10.1111/opo.12579

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PURPOSE. To investigate whether a genetic risk score (GRS) improved performance of predicting refractive error compared to knowing a child’s number of myopic parents (NMP) alone. METHODS. This was a retrospective analysis of data from the Avon Longitudinal Study of Parents and Children (ALSPAC) birth cohort study. Refractive error was assessed longitudinally between age 7-15 using noncycloplegic autorefraction. Genetic variants (n=149) associated with refractive error from a CREAM consortium genome-wide association study were used to calculate a GRS for each child. Using refractive error at ages 7 and 15 years as the outcome variable, coefficient of determination (R2) values were calculated via linear regression models for the predictors: NMP, GRS and a combined model. RESULTS. NMP was weakly predictive of refractive error in children aged 7 years, R2 = 3.0% (95% CI 1.8-4.1%, P<0.0001) and aged 15 years, R2 = 4.8% (3.1-6.5%, P<0.0001). The GRS was also weakly predictive; age 7 years, R2 = 1.1% (0.0-1.9%, P<0.0001) and 15 years R2 = 2.6% (1.3-3.9%, P<0.0001). Combining the 2 variables gave larger R2 values at ages 7, R2 =3.7% (2.5-5.0%, P<0.0001) and 15, R2 = 7.0% (5.0-9.0%, P<0.0001). The combined model improved performance at both ages (both P<0.0001). CONCLUSION. A GRS improved the ability to detect children at risk of myopia independently of knowing the NMP. We speculate this may be because NMP captures information concerning environmental risk factors for myopia. Nevertheless, further gains are required to make such predictive tests worthwhile in the clinical environment.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Optometry and Vision Sciences
Advanced Research Computing @ Cardiff (ARCCA)
Publisher: Wiley
ISSN: 0275-5408
Funders: EPSRC, Cardiff University, College of Optometrists, NIHR Senior Research Fellowship
Date of First Compliant Deposit: 26 July 2018
Date of Acceptance: 20 July 2018
Last Modified: 27 Oct 2022 00:30

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