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Article

Characteristics of p.Gln368Ter Myocilin Variant and Influence of Polygenic Risk on Glaucoma Penetrance in the UK Biobank.

Ophthalmology - 1 Sept 2021

Zebardast Nazlee, Sekimitsu Sayuri, Wang Jiali, Elze Tobias, Gharahkhani Puya, Cole Brian S, Lin Michael M, Segrè Ayellet V, Wiggs Janey L

Abstract excerpt

PURPOSE: MYOC (myocilin) mutations account for 3% to 5% of primary open-angle glaucoma (POAG) cases. We aimed to understand the true population-wide penetrance and characteristics of glaucoma among individuals with the most common MYOC variant (p.Gln368Ter) and the impact of a POAG polygenic risk score (PRS) in this population. DESIGN: Cross-sectional population-based study. PARTICIPANTS: Individuals with the...

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Identifiers

PMID: 33713785
DOI: 10.1016/j.ophtha.2021.03.007
PMCID: PMC9134646

Genes

MYOC

Variants

Provenance

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