rs1084524 - PNPT1 - EFEMP1
Magnitude 2.2 · 1 study on file
Reported associations
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Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression - Unknown journal (n.d.) · Unknown authors · PubMed 31959993
ABSTRACT: Glaucoma, a disease characterized by progressive optic nerve degeneration, can be prevented through timely diagnosis and treatment. We characterized optic nerve photographs of 67,040 UK Biobank participants and used a multitrait genetic model to identify risk loci for glaucoma. A novel glaucoma polygenic risk score (PRS) enables effective risk stratification in unselected glaucoma cases, and modifies penetrance of MYOC p.Gln368Ter, the most common glaucoma-associated myocilin variant. In the unselected glaucoma population, individuals in the top PRS decile reach an absolute risk for glaucoma 10 years earlier than the bottom decile, and are at 15-fold increased risk of developing advanced glaucoma (top 10% vs. remaining 90% OR = 4.20). The PRS predicts glaucoma progression in pros
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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intraocular pressure management and glaucoma prevention strategies Moderate
Genetic predisposition to elevated IOP warrants professional assessment of modifiable risk factors and prevention options for glaucoma risk reduction.
schedule consultation with ophthalmologist or optometrist specializing in glaucoma
Screening
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intraocular pressure and glaucoma screening Moderate
The G allele is associated with higher baseline intraocular pressure (IOP), a major modifiable risk factor for glaucoma; regular monitoring enables early detection and intervention.
baseline IOP measurement by eye care professional, then every 1-2 years if normal