Evidence map›Paper›PMID 39762938›Full record

ArticleEye and vision (London, England)2025

Whole-genome sequencing identifies novel loci for keratoconus and facilitates risk stratification in a Han Chinese population.

Yinghao Yao, Xingyong Li, Lan Wu, Jia Zhang, Yuanyuan Gui, Xiangyi Yu, Yang Zhou, Xuefei Li, Xinyu Liu, Shilai Xing and 9 more

Abstract read
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In one paragraph

Article in Eye and vision (London, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

19 authors.

Yinghao Yao *Oujiang Laboratory (Zhejiang Lab for Regenerative Medicine, Vision and Brain Health), Eye Hospital, Wenzhou Medical University, Wenzhou, 325000, Zhejiang, China.
Xingyong Li *National Engineering Research Center of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China.
Lan Wu *Beijing Institute of Genomics, Chinese Academy of Sciences and China National Center for Bioinformation, Beijing, 100101, China.
Jia ZhangNational Engineering Research Center of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China.
Yuanyuan GuiOujiang Laboratory (Zhejiang Lab for Regenerative Medicine, Vision and Brain Health), Eye Hospital, Wenzhou Medical University, Wenzhou, 325000, Zhejiang, China.
Xiangyi YuInstitute of PSI Genomics, Wenzhou Global Eye & Vision Innovation Center, Wenzhou, 325024, China.
Yang ZhouTaizhou Eye Hospital, Taizhou, 318001, China.
Xuefei LiNational Engineering Research Center of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China.
Xinyu LiuNational Engineering Research Center of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China.
Shilai XingInstitute of PSI Genomics, Wenzhou Global Eye & Vision Innovation Center, Wenzhou, 325024, China.
Gang AnInstitute of PSI Genomics, Wenzhou Global Eye & Vision Innovation Center, Wenzhou, 325024, China.
Zhenlin DuInstitute of PSI Genomics, Wenzhou Global Eye & Vision Innovation Center, Wenzhou, 325024, China.
Hui LiuNational Engineering Research Center of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China.
Shasha LiOujiang Laboratory (Zhejiang Lab for Regenerative Medicine, Vision and Brain Health), Eye Hospital, Wenzhou Medical University, Wenzhou, 325000, Zhejiang, China.
Xiaoguang YuInstitute of PSI Genomics, Wenzhou Global Eye & Vision Innovation Center, Wenzhou, 325024, China.
Myopia Associated Genetics Intervention and Consortiums
Hua ChenBeijing Institute of Genomics, Chinese Academy of Sciences and China National Center for Bioinformation, Beijing, 100101, China.
Jianzhong SuOujiang Laboratory (Zhejiang Lab for Regenerative Medicine, Vision and Brain Health), Eye Hospital, Wenzhou Medical University, Wenzhou, 325000, Zhejiang, China.
Shihao ChenNational Engineering Research Center of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China. chenle@rocketmail.com.ORCID http://orcid.org/0000-0001-7646-8003

Funding

National Natural Science Foundation of China 82172882The China Postdoctoral Research Fellowship Program GZC20231952Wenzhou Medical University Basic Scientific Research Operating Expenses KYYW202105Wenzhou Science and Technology Project Y2020359Zhejiang Provincial Natural Science Foundation of China LQ24C120003Zhejiang Provincial Natural Science Foundation of China LY20H120005
6 · The paper itself

Abstract

backgroundKeratoconus (KC) is a prevalent corneal condition with a modest genetic basis. Recent studies have reported significant genetic associations in multi-ethnic cohorts. However, the situation in the Chinese population remains unknown. This study was conducted to identify novel genetic variants linked to KC and to evaluate the potential applicability of a polygenic risk model in the Han Chinese population.

methodsA total of 830 individuals diagnosed with KC and 779 controls from a Chinese cohort were enrolled and genotyped by whole-genome sequencing (WGS). Common and rare variants were respectively subjected to single variant association analysis and gene-based burden analysis. Polygenic risk score (PRS) models were developed using top single-nucleotide polymorphisms (SNPs) identified from a multi-ethnic meta-analysis and then evaluated in the Chinese cohort.

resultsThe characterization of germline variants entailed correction for population stratification and validation of the East Asian ancestry of the included samples via principal component analysis. For rare protein-truncating variants (PTVs) with minor allele frequency (MAF) < 5%, ZC3H11B emerged as the top prioritized gene, albeit failing to reach the significance threshold. We detected three common variants reaching genome-wide significance (P ≤ 5 × 10

conclusionsOur comprehensive WGS-based GWAS in a large Chinese cohort enhances the efficiency of array-based genetic studies, revealing novel genetic associations for KC and highlighting the potential for refining clinical decision-making and early prevention strategies.

Indexed as

Genome wide association analysisHan ChineseKeratoconusPolygenic risk predictionWhole-genome sequencing

Identifiers

PMID39762938
PMCPMC11706019

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.