ArticleOphthalmology science2026
Genome-Wide Association Study of Pterygium Versus Pinguecula Identifies Loci Associated with Lesion-Type Divergence.
Article in Ophthalmology 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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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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9 authors.
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Abstract
Purpose: Both pterygium and pinguecula are ocular surface lesions associated with shared environmental risk factors, including ultraviolet (UV) radiation exposure. However, most pingueculae do not progress to pterygium, and while prior genetic studies suggest a genetic contribution to pterygium susceptibility, the difficulty of controlling for shared UV exposure has been a limiting factor. Here, we use array-based data and whole genome sequencing (WGS)-based data from the multiancestry Design: Case-control study. Participants: A total of 1483 pterygium cases and 1768 pinguecula cases in the array-based analysis; 1368 pterygium cases and 1651 pinguecula cases in the WGS-based analysis. Methods: Genome-wide association testing was performed using PLINK2, statistical fine-mapping was performed using the Sum of Single Effects model, and expression quantitative trait locus (eQTL) associations were obtained from three databases. Main outcome measures: Results: One lead variant on chromosome 20 reached genome-wide significance in the WGS-based analysis and was near genome-wide significance in the array-based analysis. Conclusions: Pterygium and pinguecula share UV-associated exposure as a risk factor but exhibit partially distinct genetic susceptibility. Lead loci near Financial Disclosures: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
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