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<p>Refractive errors (REs) affect over half of the global population, with consequences ranging from blurred vision to blindness. Here we conducted ancestry-stratified and cross-ancestry meta-analyses of genome-wide association studies for RE in people of European (<i>n</i> = 1,495,159), East Asian (<i>n</i> = 121,172) and African (<i>n</i> = 144,737) ancestries. The cross-ancestry meta-analysis identified 932 RE-associated variants, including 241 previously unknown associations, four East Asian-specific associations and one African-specific association. Statistical fine-mapping pinpointed 16 high-confidence putative causal variants, and gene prioritization analyses highlighted 23 genes involved in eye development. We constructed an enhanced polygenic predictor incorporating functional annotations that explained 21.4% of RE variation, effectively stratified the onset, progression and severity of myopia, and achieved an area under the receiver operating characteristic curve of 0.806 for predicting high myopia. Our multi-ancestry genome-wide association study expands substantially the catalog of genetic variants for RE and demonstrates the potential clinical utility of polygenic prediction in identifying high-risk people across diverse populations.</p>

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Multi-ancestry genome-wide association analyses of refractive error augment genetic discovery and polygenic prediction

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年4月20日

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  • Fei-Fei Cheng,
  • Xiaoxi Liu,
  • Hao Mi,
  • Lizhong Wang,
  • Ruilei Ma,
  • Yazhou Guo,
  • Julia Sidorenko,
  • Chen Jiang,
  • Tania Islam,
  • Akira Meguro,
  • Keiko Hikino,
  • Yuki Ishikawa,
  • Senwei Tang,
  • Teng Li,
  • Ruoyan Chen,
  • Likun Wang,
  • Reedik Mägi,
  • Andres Metspalu,
  • Lili Milani,
  • Tõnu Esko,
  • Mari Nelis,
  • Georgi Hudjashov,
  • Adam Auton,
  • Alan Kwong,
  • Anjali J. Shastri,
  • Barry Hicks,
  • Catherine H. Weldon,
  • David A. Hinds,
  • Emily DelloRusso,
  • Emily M. Rios,
  • Joyce Y. Tung,
  • Kahsaia de Brito,
  • Katelyn Kukar Bond,
  • Keng-Han Lin,
  • Matthew H. McIntyre,
  • Matthew J. Kmiecik,
  • Qiaojuan Jane Su,
  • Robert K. Bell,
  • Sayantan Das,
  • Shubham Saini,
  • Stella Aslibekyan,
  • Vinh Tran,
  • Wanwan Xu,
  • Alisa P. Lehman,
  • Noura S. Abul-Husn,
  • R. Ryanne Wu,
  • Rebecca M. K. Berns,
  • Ruth I. Tennen,
  • Stacey B. Detweiler,
  • Aditya Ambati,
  • Anna Guan,
  • Bertram L. Koelsch,
  • Chris German,
  • Éadaoin Harney,
  • Ethan M. Jewett,
  • G. David Poznik,
  • James R. Ashenhurst,
  • Jingran Wen,
  • Peter R. Wilton,
  • Steven J. Micheletti,
  • William A. Freyman,
  • Masaki Takeuchi,
  • Nobuhisa Mizuki,
  • Hélène Choquet,
  • Zi-Bing Jin,
  • Gang Chen,
  • Kun Zhou,
  • Chikashi Terao,
  • Jian Zeng,
  • Jian Yang

摘要

Refractive errors (REs) affect over half of the global population, with consequences ranging from blurred vision to blindness. Here we conducted ancestry-stratified and cross-ancestry meta-analyses of genome-wide association studies for RE in people of European (n = 1,495,159), East Asian (n = 121,172) and African (n = 144,737) ancestries. The cross-ancestry meta-analysis identified 932 RE-associated variants, including 241 previously unknown associations, four East Asian-specific associations and one African-specific association. Statistical fine-mapping pinpointed 16 high-confidence putative causal variants, and gene prioritization analyses highlighted 23 genes involved in eye development. We constructed an enhanced polygenic predictor incorporating functional annotations that explained 21.4% of RE variation, effectively stratified the onset, progression and severity of myopia, and achieved an area under the receiver operating characteristic curve of 0.806 for predicting high myopia. Our multi-ancestry genome-wide association study expands substantially the catalog of genetic variants for RE and demonstrates the potential clinical utility of polygenic prediction in identifying high-risk people across diverse populations.