The Association of Polygenic Risk Score With Glaucoma and Its Related Traits: Results From Two German…

Cohort studyInvestigative ophthalmology & visual science· Dec 2025

The Association of Polygenic Risk Score With Glaucoma and Its Related Traits: Results From Two German Population-Based Studies.

Anna M Welzel, Caroline Brandl, Janina M Herold … Alexander K Schuster

GlaucomaCohort studyPrognosisQ1IF 4.2

Higher glaucoma genetic risk scores were associated with greater glaucoma prevalence.

The Association of Polygenic Risk Score With Glaucoma and Its Related Traits: Results From Two German Population-Based Studies.

Anna M Welzel … Alexander K Schuster

Investigative ophthalmology & visual science · Dec 2025 · Q1 in Ophthalmology

Purpose

The aim of this study was to explore the associations between a glaucoma polygenic risk score (glaucoma polygenic risk score) with glaucoma prevalence, intraocular pressure (IOP), and peripapillary retinal nerve fibre layer thickness (pRNFL) on a population-based level.

Methods

Of the Gutenberg Health Study (aged 40-80 years) and the AugUR Study (aged 70-95 years), two German population-based studies, were included.

n = 12,147 had glaucoma grading

Results

higher genetic risk scores were linked to more people having glaucoma

Prevalence ratio 1.84 (95% CI 1.60 to 2.11)

CI excludes the null - significant

More results

Higher glaucoma polygenic risk score was associated with thinner global RNFL (B-estimate = -0.61 µm per SD of glaucoma polygenic risk score on global RNFL; 95% CI, -0.86 to -0.36; P = 1.2 × 10-6) with increasing age.

There was an association in temporal-inferior, temporal-superior, nasal-inferior, nasal-superior, and nasal RNFL sector.

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Conclusion

Higher glaucoma polygenic risk score is associated with glaucoma prevalence, higher IOP and thinner RNFL in two population-based studies in Germany. These associations were particularly seen in older participants.

The Association of Polygenic Risk Score With Glaucoma and Its Related Traits: Results From Two German Population-Based Studies.

The Association of Polygenic Risk Score With Glaucoma and Its Related Traits: Results From Two German Population-Based Studies.

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