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<p>To identify novel genetic loci for children refractive error, we performed a meta-analysis of two genome-wide association studies (GWASs) of spherical equivalent (SE) in 1,237 children from the population-based Hong Kong Children Eye Study (HKCES) and the Low Concentration Atropine for Myopia Progression (LAMP) study. Replication was conducted in 4,093 Chinese children and 1,814 Chinese adults. Four lead-SNPs (<i>MIR4275</i> rs292034, <i>TENM3</i> rs17074027, <i>LOC101928911</i> rs6925312 and <i>FAM135B</i> rs4609227) showed genome-wide significant association (<i>P</i> ≤ 5.0 × 10<sup>−8</sup>) with SE. <i>TENM3</i> had been associated with myopia in adults before, whilst the other three loci, <i>MIR4275</i>, <i>LOC101928911</i> and <i>FAM135B</i>, were novel. Significant interaction between genetic risk scores (GRS) and near work on SE was also detected (β<sub>interaction</sub> = 0.14, <i>P</i><sub>interaction</sub> = 0.0003). This study identified novel genetic loci for children refractive error and suggested myopia intervention can be individualized based on the genetic risk of children.</p>

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Genome-wide association study identified novel loci and gene-environment interaction for refractive error in children

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年5月23日

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  • Yuyao Wang,
  • Yuzhou Zhang,
  • Haoyu Chen,
  • Xiu Juan Zhang,
  • Riping Zhang,
  • Tsz Kin Ng,
  • Jenson A. Tham,
  • Ka Wai Kam,
  • Pancy O. S. Tam,
  • Alvin L. Young,
  • Yingying Wei,
  • Mingzhi Zhang,
  • Chi Pui Pang,
  • Clement C. Tham,
  • Jason C. Yam,
  • Li Jia Chen

摘要

To identify novel genetic loci for children refractive error, we performed a meta-analysis of two genome-wide association studies (GWASs) of spherical equivalent (SE) in 1,237 children from the population-based Hong Kong Children Eye Study (HKCES) and the Low Concentration Atropine for Myopia Progression (LAMP) study. Replication was conducted in 4,093 Chinese children and 1,814 Chinese adults. Four lead-SNPs (MIR4275 rs292034, TENM3 rs17074027, LOC101928911 rs6925312 and FAM135B rs4609227) showed genome-wide significant association (P ≤ 5.0 × 10−8) with SE. TENM3 had been associated with myopia in adults before, whilst the other three loci, MIR4275, LOC101928911 and FAM135B, were novel. Significant interaction between genetic risk scores (GRS) and near work on SE was also detected (βinteraction = 0.14, Pinteraction = 0.0003). This study identified novel genetic loci for children refractive error and suggested myopia intervention can be individualized based on the genetic risk of children.