近日，西湖大学杨剑团队的研究发现屈光不正的多祖先全基因组关联分析增强了遗传发现和多基因预测。相关论文于2026年4月20日发表在《自然—遗传学》杂志上。

在这里，该课题组对欧洲人（n = 1,495,159）、东亚人（n = 121,172）和非洲人（n = 144,737）祖先群体进行了分层祖先和跨祖先的屈光不正全基因组关联研究荟萃分析。跨祖先荟萃分析共鉴定出932个与屈光不正相关的变异，其中包括241个此前未知的关联、4个东亚人群特异性关联和1个非洲人群特异性关联。统计精细图谱精确定位了16个高置信度的潜在因果变异，基因优先排序分析突出了23个与眼睛发育有关的基因。研究团队构建了一个包含功能注释的增强型多基因预测器，解释了21.4%的RE变异，有效地对近视的发生、进展和严重程度进行了分层，并在预测高度近视时实现了0.806的受试者工作特征曲线下面积。他们的多祖先全基因组关联研究大大扩展了RE遗传变异的目录，并证明了潜在的临床

据悉，屈光不正影响着全球一半以上的人口，其后果从视力模糊到失明。

附：英文原文

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

Author: Cheng, Fei-Fei, Liu, Xiaoxi, Mi, Hao, Wang, Lizhong, Ma, Ruilei, Guo, Yazhou, Sidorenko, Julia, Jiang, Chen, Islam, Tania, Meguro, Akira, Hikino, Keiko, Ishikawa, Yuki, Tang, Senwei, Li, Teng, Chen, Ruoyan, Wang, Likun, Mgi, Reedik, Metspalu, Andres, Takeuchi, Masaki, Mizuki, Nobuhisa, Choquet, Hlne, Jin, Zi-Bing, Chen, Gang, Zhou, Kun, Terao, Chikashi, Zeng, Jian, Yang, Jian

Issue&Volume: 2026-04-20

Abstract: 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

DOI: 10.1038/s41588-026-02576-0

Source: https://www.nature.com/articles/s41588-026-02576-0