全基因组关联研究发现儿童屈光不正的新位点和基因-环境相互作用。

IF 4.8 2区医学 Q1 GENETICS & HEREDITY

NPJ Genomic Medicine Pub Date : 2025-05-23 DOI:10.1038/s41525-025-00504-5

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

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引用次数: 0

摘要

为了确定儿童屈光不正的新基因位点，我们对1237名儿童的两项全基因组关联研究（GWASs）进行了荟萃分析，这些研究来自基于人群的香港儿童眼科研究（HKCES）和低浓度阿托品治疗近视进展（LAMP）研究。在4093名中国儿童和1814名中国成年人中进行了重复研究。4个lead-SNPs （MIR4275 rs292034、TENM3 rs17074027、LOC101928911 rs6925312和FAM135B rs4609227）与SE呈全基因组显著相关（P≤5.0 × 10-8）。TENM3与成人近视相关，而其他三个位点MIR4275、LOC101928911和FAM135B是新发现的。遗传风险评分（GRS）与SE近工作间存在显著交互作用（β交互作用= 0.14，p交互作用= 0.0003）。本研究发现了儿童屈光不正的新基因位点，并建议根据儿童的遗传风险进行个体化近视干预。

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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^-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 (β_interaction = 0.14, P_interaction = 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.

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来源期刊

NPJ Genomic Medicine Biochemistry, Genetics and Molecular Biology-Molecular Biology

CiteScore

9.40

自引率

1.90%

发文量

审稿时长

17 weeks

期刊介绍： npj Genomic Medicine is an international, peer-reviewed journal dedicated to publishing the most important scientific advances in all aspects of genomics and its application in the practice of medicine. The journal defines genomic medicine as "diagnosis, prognosis, prevention and/or treatment of disease and disorders of the mind and body, using approaches informed or enabled by knowledge of the genome and the molecules it encodes." Relevant and high-impact papers that encompass studies of individuals, families, or populations are considered for publication. An emphasis will include coupling detailed phenotype and genome sequencing information, both enabled by new technologies and informatics, to delineate the underlying aetiology of disease. Clinical recommendations and/or guidelines of how that data should be used in the clinical management of those patients in the study, and others, are also encouraged.