全基因组关联研究确定了儿童屈光不正的新基因座和基因-环境相互作用。
Genome-wide association study identified novel loci and gene-environment interaction for refractive error in children.
作者信息
Wang Yuyao, Zhang Yuzhou, Chen Haoyu, Zhang Xiu Juan, Zhang Riping, Ng Tsz Kin, Tham Jenson A, Kam Ka Wai, Tam Pancy O S, Young Alvin L, Wei Yingying, Zhang Mingzhi, Pang Chi Pui, Tham Clement C, Yam Jason C, Chen Li Jia
机构信息
Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
Joint Shantou International Eye Center of Shantou University and the Chinese University of Hong Kong, Guangdong, Shantou, China.
出版信息
NPJ Genom Med. 2025 May 23;10(1):44. doi: 10.1038/s41525-025-00504-5.
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) 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 = 0.14, P = 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.
为了确定儿童屈光不正的新基因位点，我们对基于人群的香港儿童眼病研究（HKCES）和低浓度阿托品治疗近视进展（LAMP）研究中1237名儿童的球镜当量（SE）的两项全基因组关联研究（GWAS）进行了荟萃分析。在4093名中国儿童和1814名中国成年人中进行了重复验证。四个主要单核苷酸多态性（MIR4275 rs292034、TENM3 rs17074027、LOC101928911 rs6925312和FAM135B rs4609227）显示与SE存在全基因组显著关联（P≤5.0×10）。TENM3此前已被证明与成人近视有关，而其他三个基因位点MIR4275、LOC101928911和FAM135B则是新发现的。还检测到遗传风险评分（GRS）与近距离工作对SE的显著相互作用（β=0.14，P=0.0003）。这项研究确定了儿童屈光不正的新基因位点，并表明近视干预可以根据儿童的遗传风险进行个体化。
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