Genome-wide association study identified novel loci and gene-environment interaction for refractive error in children
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<sup>-8</sup>) 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 (β<sub>interaction</sub> = 0.14, P<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.
Authors
- Tsz Kin Ng (ORCID: https://orcid.org/0000-0001-7863-7229)
- Joo‐Cheong Tham (ORCID: https://orcid.org/0000-0002-8035-2414)
- Xiu Juan Zhang (ORCID: https://orcid.org/0000-0002-4197-1423)
- Ka Wai Kam (ORCID: https://orcid.org/0000-0002-7760-6882)
- Clement Chee Yung Tham (ORCID: https://orcid.org/0000-0003-4407-6907)
- Jason C. S. Yam (ORCID: https://orcid.org/0000-0002-2156-1486)
- Li Jia Chen (ORCID: https://orcid.org/0000-0003-3500-5840)
- Alvin Lerrmann Young (ORCID: https://orcid.org/0000-0002-4365-3218)
- Yingying Wei (ORCID: https://orcid.org/0000-0003-2177-2301)
- Mingzhi Zhang (ORCID: https://orcid.org/0009-0003-6948-9596)
- Yuyao Wang (ORCID: https://orcid.org/0000-0003-1315-9099)
- Haoyu Chen (ORCID: https://orcid.org/0000-0003-0676-4610)
- Yuzhou Zhang (ORCID: https://orcid.org/0000-0001-8515-3388)
- Riping Zhang (ORCID: https://orcid.org/0000-0002-4213-0087)
- Pancy O. S. Tam
- Chi Pui Pang
Institutions
- Chinese University of Hong Kong (HK)
- Hong Kong Eye Hospital (CN)
- Queen Mary Hospital (CN)
- Shantou University (CN)
- Prince of Wales Hospital (CN)
- University of Hong Kong (HK)
Publication Details
- Journal
- npj Genomic Medicine
- Published
- 2025-05-23
- DOI
- https://doi.org/10.1038/s41525-025-00504-5
- Citations
- 3
- Primary Topic
- Ophthalmology and Visual Impairment Studies
- Type
- article
- Field-Weighted Citation Impact
- 4.06
Funders
- National Natural Science Foundation of China
- Chinese University of Hong Kong
- Innovation and Technology Fund
- Health and Medical Research Fund