Evidence map›Paper›PMID 42530915›Full record

ArticleInvestigative ophthalmology & visual science2026

A Shared Genetic Basis Underlying Myopia-Exotropia Comorbidity.

Yuze Mi, Zhe Tao, Zhengbo Xue, Shaokai Lin, Yebao Huang, Qinnan Zhu, Xinni Zheng, Yanggang Hong, Zirong Liu, Luyao Tong and 2 more

Abstract read
In one paragraph

Article in Investigative ophthalmology & visual science, 2026. 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

12 authors.

Yuze MiState Key Laboratory of Eye Health, Eye Hospital and National Engineering Research Center of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, China.
Zhe TaoThe Fourth School of Clinical Medicine, Zhejiang Chinese Medical University, Hangzhou, China.
Zhengbo XueState Key Laboratory of Eye Health, Eye Hospital and National Engineering Research Center of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, China.
Shaokai LinState Key Laboratory of Eye Health, Eye Hospital and National Engineering Research Center of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, China.
Yebao HuangLiuzhou People's Hospital, Guangxi Medical University, Liuzhou, China.
Qinnan ZhuState Key Laboratory of Eye Health, Eye Hospital and National Engineering Research Center of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, China.
Xinni ZhengState Key Laboratory of Eye Health, Eye Hospital and National Engineering Research Center of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, China.
Yanggang HongThe Second School of Medicine, Wenzhou Medical University, Wenzhou, China.
Zirong LiuDepartment of Ophthalmology, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.
Luyao TongDepartment of Ophthalmology, The First Affiliated Hospital of Ningbo University, Ningbo, China.
Jiawei ZhouState Key Laboratory of Eye Health, Eye Hospital and National Engineering Research Center of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, China.
Minghui WanState Key Laboratory of Eye Health, Eye Hospital and National Engineering Research Center of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: To characterize the shared genetic architecture underlying the frequent co-occurrence of myopia and exotropia. Methods: Leveraging large-scale genome-wide association study (GWAS) data, we examined the genetic correlation and polygenic overlap between myopia and exotropia. Candidate shared signals were prioritized through cross-trait meta-analysis using multi-trait analysis of GWAS (MTAG) and further evaluated by colocalization, fine mapping, and local genetic correlation analyses, complemented by in silico transcriptomic and regulatory annotation. Results: High-definition likelihood (HDL) analysis estimated a positive genetic correlation between myopia and exotropia (rg = 0.25; P = 0.044). MiXeR bivariate causal-mixture modeling further demonstrated substantial polygenic overlap, estimating 201 shared non-null variants with 80.1% concordant effect directions. This shared component accounted for a larger proportion of the polygenicity of exotropia (59.6%) than of myopia (17.9%). MTAG-based cross-trait meta-analysis prioritized rs7405453 at the TSPAN10 locus, previously associated with broadly defined strabismus and refractive error, as the strongest shared signal. The myopia-exotropia genetic correlation changed minimally after exclusion of the TSPAN10 region, indicating that the shared architecture was not driven solely by this locus. In silico transcriptomic and regulatory annotations provided supportive biological context for TSPAN10 across neural, ocular, and extraocular muscle contexts. Conclusions: The comorbidity of myopia and exotropia may be partly explained by a shared genetic architecture. Further studies with larger samples, refined phenotyping, and functional validation are warranted to clarify the underlying mechanisms.

Indexed as

Genetic Predisposition to DiseaseMyopiaComorbidityGenome-Wide Association StudyHumansMultifactorial InheritancePolymorphism, Single Nucleotide

Identifiers

PMID42530915
PMCPMC13436582

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