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When do myopia genes have their effect? Comparison of genetic risks between children and adults

Tideman, JWL; Fan, Q; Polling, JR; Guo, X; Yazar, S; Khawaja, A; Hoehn, R; ... Klaver, CCW; + view all (2016) When do myopia genes have their effect? Comparison of genetic risks between children and adults. Genetic Epidemiology , 40 (8) pp. 756-766. 10.1002/gepi.21999. Green open access

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Abstract

Previous studies have identified many genetic loci for refractive error and myopia. We aimed to investigate the effect of these loci on ocular biometry as a function of age in children, adolescents, and adults. The study population consisted of three age groups identified from the international CREAM consortium: 5,490 individuals aged <10 years; 5,000 aged 10–25 years; and 16,274 aged >25 years. All participants had undergone standard ophthalmic examination including measurements of axial length (AL) and corneal radius (CR). We examined the lead SNP at all 39 currently known genetic loci for refractive error identified from genome-wide association studies (GWAS), as well as a combined genetic risk score (GRS). The beta coefficient for association between SNP genotype or GRS versus AL/CR was compared across the three age groups, adjusting for age, sex, and principal components. Analyses were Bonferroni-corrected. In the age group <10 years, three loci (GJD2, CHRNG, ZIC2) were associated with AL/CR. In the age group 10–25 years, four loci (BMP2, KCNQ5, A2BP1, CACNA1D) were associated; and in adults 20 loci were associated. Association with GRS increased with age; β = 0.0016 per risk allele (P = 2 × 10–8) in <10 years, 0.0033 (P = 5 × 10–15) in 10- to 25-year-olds, and 0.0048 (P = 1 × 10–72) in adults. Genes with strongest effects (LAMA2, GJD2) had an early effect that increased with age. Our results provide insights on the age span during which myopia genes exert their effect. These insights form the basis for understanding the mechanisms underlying high and pathological myopia.

Type: Article
Title: When do myopia genes have their effect? Comparison of genetic risks between children and adults
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/gepi.21999
Publisher version: http://dx.doi.org/10.1002/gepi.21999
Language: English
Additional information: Copyright © 2016 Wiley Periodicals Inc. This is the peer reviewed version of the following article: [Tideman, JWL; Fan, Q; Polling, JR; Guo, X; Yazar, S; Khawaja, A; Hoehn, R; (2016) When do myopia genes have their effect? Comparison of genetic risks between children and adults. Genetic Epidemiology , 40 (8) pp. 756-766. 10.1002/gepi.21999], which has been published in final form at http://dx.doi.org/10.1002/gepi.21999. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.
Keywords: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, Mathematical & Computational Biology, development, genetic risk, myopia, SNPs, Retinal-pigment Epithelium, Genome-wide Association, Refractive Error, Axial Length, Photoreceptor Development, Susceptibility Locus, Medical-students, Mammalian Retina, Crystalline Lens, Ocular Biometry
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/1516856
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