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Proteome-wide Mendelian randomisation identifies causal links between blood proteins and myopia

Bibliographic Data

ID19550876
AuthorsFanye Wu (Zhujiang Hospital), Yuehong Zhou (Zhujiang Hospital), Xinyu Ma (0000-0001-5732-2404, Zhujiang Hospital), Zhiyuan Zhao (0000-0002-4113-3796, Zhujiang Hospital), Shaoyu Wang (0000-0001-8674-8965, Zhujiang Hospital), Kedi Ma (Zhujiang Hospital), Siyu Yang (0009-0004-9544-9739, Sun Yat-sen University), Mingzhe Cao (0000-0003-4437-5245, Sun Yat-sen University), Guoguo Yi (0000-0001-5809-4896, Sun Yat-sen University), Min Fu (0000-0001-9117-1232, Zhujiang Hospital)
Year2026
Volume16
Pages04003-04003
Publication date2026-02-20
Peer ReviewedYes
Open AccessYes
TypeARTICLE
VenueJournal of Global Health (JOURNAL)
Journal identifiersISSN: 2047-2978 • E-ISSN: 2047-2986
PublisherInternational Society of Global Health (PUBLISHER • GB)
DOI10.7189/jogh.16.04003
PMID41718003
OpenAlexW7130654980
LanguageEN
References cited65

Background: Myopia is one of the most prevalent eye diseases worldwide, and its incidence is increasing. However, effective pharmaceutical treatments remain limited. We aimed to identify blood proteins causally associated with myopia as potential drug targets. Methods: We performed a genome-wide association study (GWAS) meta-analysis involving 43 862 myopia cases and 84 820 controls. Then, we conducted a Mendelian randomisation (MR) analysis of blood proteins by utilising the deCODE and UK Biobank Pharma Proteomics Project datasets, and validated the correlations between these characteristics through a cross-sectional study of 50 586 individuals, including 3108 with myopia. Subsequently, through protein-protein interaction (PPI) analyses, we explored potential connections between proteins and existing myopia treatments. Results: The GWAS meta-analysis found 26 genetic risk loci for myopia, including nine novel loci. The cross-sectional study showed correlations between height, smoking, and myopia. Proteome-wide MR analysis identified 164 plasma proteins potentially causally linked to myopia, with 20 proteins validated in both datasets. Genetic colocalisation analysis, PPI, and drug target analyses identified promising therapeutic targets for myopia. Conclusions: We identified genetic loci associated with myopia and proteins with potential causal roles in its development. These results indicate new genetic architectures underlying myopia, offering potential treatment targets and a foundation for personalised therapeutic strategies

Disease · Genetic variants · MEDLINE · Mendelian inheritance · Mendelian randomization · Multifactorial Inheritance · Glaucoma and retinal disorders · Ophthalmology and Visual Impairment Studies · Retinopathy of Prematurity Studies

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