Genetic associations of myopia severities and endophenotypes in children

作者：Fen Fen Li, Shi Yao Lu, Shu Min Tang, Ka Wai Kam, Tam Pancy O S, Wilson W. K. Yip, Alvin L. Young, Clement C. Tham, Chi Pui Pang, Jason C. Yam, Li Jia Chen · 发表于：British Journal of Ophthalmology · 年份：2020 · DOI：10.1136/bjophthalmol-2020-316728 · 被引用次数：23 · 研究领域：Ophthalmology and Visual Impairment Studies、Glaucoma and retinal disorders、Corneal surgery and disorders

Objective To investigate the associations of multiple single-nucleotide polymorphisms (SNPs) with the severities and endophenotypes of myopia in children. Methods A total of 3300 children aged 5–10 years were recruited: 137 moderate and high myopia (SE≤−3.0D), 670 mild myopia (−3.0D<SE≤−0.5D) and 2493 controls (SE>−0.5D). 13 SNPs in 13 genes/loci were selected for genotyping in all subjects using TaqMan assays. Associations between each SNP with myopia severities and ocular traits (spherical equivalent (SE), axial length (AL) and corneal radius (CR)) were analysed. Results When compared with controls, SNPs ZC3H11B rs4373767 (OR=1.15, p=0.038), BICC1 rs7084402 (OR=1.18, p=0.005) and GJD2 rs524952 (OR=1.14, p=0.025) showed nominal associations with overall myopia. ZC3H11B rs4373767 and BICC1 rs7084402 showed stronger associations with moderate and high myopia (rs4373767: OR=1.42, p=0.018; rs7084402: OR=1.33, p=0.025), while GJD2 rs524952 had a stronger association with mild myopia (OR=1.14, p=0.025). GJD2 rs524952 also showed a difference between emmetropia and hyperopia (p=0.018). In quantitative trait locus analysis, ZC3H11B rs4373767, KCNQ5 rs7744813 and GJD2 rs524952 were correlated with both myopic SE (β=−0.09, p=0.03; β=−0.12, p=0.007; β=−0.13, p=0.0006, respectively) and AL (β=0.07, p=0.002; β=0.09, p=0.0008; β=0.07, p=0.0003, respectively). SNTB1 rs7839488 was correlated with both AL (β=0.07, p=0.005) and CR (β=0.02, p=0.006). Moreover, ZC3H11B rs4373767-T (β=0.00...